Macular Degeneration - Pipeline Assessment and Market Forecasts to 2017 is an essential source of information and analysis on the global Macular Degeneration market. The report identifies the key trends shaping and driving the global Macular Degeneration market. The report also provides insights on the prevalent competitive landscape and the emerging players expected to significantly alter the market positioning of the current market leaders. Most importantly, the report provides valuable insights on the pipeline products within the global Macular Degeneration sector. This report is built using data and information sourced from proprietary databases, primary and secondary research and in-house analysis by a team of industry experts.
The authors valued the global macular degeneration therapeutics market at $1.3 billion in 2009. It is expected to grow to $3.0 billion with a Compound Annual Growth Rate (CAGR) of 10.4% by 2017. This growth is primarily attributed to the increase in the aged population across the world. Macular degeneration is a common disease that affects people above 50 years of age. Incidence is high in patients who are above 70 years. The growth will be supported by increased competition between the traditionally used off label products and the newly approved drugs and is expected to continue in the future. In 2009, Lucentis (ranibizumab), a blockbuster drug from Genentech, was the leading player in the global macular degeneration therapeutics market. Avastin is one of Genentech's blockbuster drugs, approved for various types of cancer. Avastin was widely used as an off-label drug by patients with macular degeneration before the approval of Lucentis.
Competition in the Macular Degeneration Therapeutics Market is Expected to Intensify The leading companies in the global macular degeneration therapeutics market are Genentech, Osi Eyetech Inc. and QLT Ltd. Together, these companies accounted for more than 95% of the global macular degeneration therapeutics market in 2009.
Genentech, with its blockbuster drug Lucentis, was the market leader with a share of more than 90%, followed by Visudyne (verteporfin). However, companies such as Novartis AG, Bayer/Regeneron Pharma, Adeona Pharma, Ophthotech Corp, Alcon Inc, Pfizer Inc, Acucela Inc, Alimera Sciences, Neurotech Pharma and Allergan Inc have the most technologically advanced products in their pipeline portfolios and are expected to attract most of the investors attention. The global macular degeneration therapeutics market has seen some intense competition in recent times, which is expected to further intensify over the coming years.
GlobalData, the industry analysis specialist, has released its new report, Macular Degeneration - Pipeline Assessment and Market Forecasts to 2017. The report is an essential source of information and analysis on the global Macular Degeneration market. The report identifies the key trends shaping and driving the global Macular Degeneration market. The report also provides insights on the prevalent competitive landscape and the emerging players expected to significantly alter the market positioning of the current market leaders. Most importantly, the report provides valuable insights on the pipeline products within the global Macular Degeneration sector. This report is built using data and information sourced from proprietary databases, primary and secondary research and in-house analysis by Our team of industry experts.
GlobalData valued the global macular degeneration therapeutics market at $1.3 billion in 2009. It is expected to grow to $3.0 billion with a Compound Annual Growth Rate (CAGR) of 10.4% by 2017. This growth is primarily attributed to the increase in the aged population across the world. Macular degeneration is a common disease that affects people above 50 years of age. Incidence is high in patients who are above 70 years. The growth will be supported by increased competition between the traditionally used off label products and the newly approved drugs and is expected to continue in the future. In 2009, Lucentis (ranibizumab), a blockbuster drug from Genentech, was the leading player in the global macular degeneration therapeutics market. Avastin is one of Genentechs blockbuster drugs, approved for various types of cancer. Avastin was widely used as an off-label drug by patients with macular degeneration before the approval of Lucentis.
Scope The report provides information on the key drivers and challenges of the Macular Degeneration market. Its scope includes: Annualized global Macular Degeneration market revenues data from 2001 to 2009, forecast for eight years to 2017. Pipeline analysis data providing a split across the different phases, mechanisms of action being developed and emerging trends. Pipeline candidates fall under major therapeutic classes such as VEGF inhibitors, angiogenesis inhibitors, C5a receptor antagonists, antioxidants, tyrosine kinase inhibitosr, clotting factor inhibitors, cyclooxygenase inhibitors, RPE inhibitors, antioxidants, PDGF inhibitors, chemokine inhibitors, IL-2 inhibitors, retinol protein binders, a51 integrin antagonist, protein C3 inhibitors and mRNA targeting agents. Analysis of the current and future competition in the global Macular Degeneration market. Key market players covered are Novartis AG, Bayer Pharma, Adeona Pharma, Ophthotech Corp., Alcon Inc, Pfizer Inc, Acucela Inc, Alimera Sciences, Neurotech Pharma, and Allergan Inc. Insightful review of the key industry drivers, restraints and challenges.
Each trend is independently researched to provide a qualitative analysis of its implications. Key topics covered include strategic competitor assessment, market characterization, unmet needs and the implications for the Macular Degeneration therapeutics market.
Reasons to buy The report will enhance your decision making capability. It will allow you to: Develop and design your in-licensing and out-licensing strategies through a review of pipeline products and technologies and by identifying the companies with the most robust pipeline. Develop business strategies by understanding the trends shaping and driving the global Macular Degeneration market. Drive revenues by understanding the key trends, innovative products and technologies, market segments and companies likely to impact the global Macular Degeneration market in future. Formulate effective sales and marketing strategies by understanding the competitive landscape and by analyzing the performance of various competitors. Identify emerging players with potentially strong product portfolios and create effective counter-strategies to gain a competitive advantage. Organize your sales and marketing efforts by identifying the market categories and segments that present maximum opportunities for consolidations, investments and strategic partnerships. What's the next big thing in the global Macular Degeneration market landscape? Identify, understand and capitalize.
Key Topics Covered: 1 Summary 2 Macular Degeneration Therapeutics: Disease Overview 3 Macular Degeneration Therapeutics: Market Characterization 4 Macular Degeneration Therapeutics: Competitive Assessment 5 Macular Degeneration Therapeutics: Pipeline Assessment 6 Global Macular Degeneration Therapeutics: Implications for Future Market Competition 7 Macular Degeneration Therapeutics: Future Players in the Macular Degeneration Disease Market 8 Macular Degeneration Therapeutics: Appendix Companies Mentioned: Alcon Inc. Novartis AG Ophthotech Corporation Pfizer Inc Acucela Inc. Regeneron Pharmaceuticals, Inc.
Saturday, January 29, 2011
Sunday, January 23, 2011
Age-related macular degeneration is growing with the graying American population
By LESLIE BARKER GARCIA
DALLAS — Jennifer Tyler was driving down a country road in Oklahoma a couple of years ago when she noticed something odd. The telephone poles all had kinks in them.
"I thought, 'Wow, what's all that about?'" says Tyler, a Dallas fundraising consultant. "They all had distinctive bends in the middle."She pulled off the road and called a friend. "I knew something bad was happening," she says. "It was nothing I could ignore."Her friend referred Tyler to Texas Retina Associates. Tyler made an appointment and was diagnosed as having age-related macular degeneration.
AMD is a disease that causes significant vision loss in 1.75 million Americans. More than 10 million suffer from various forms of this potentially sight-stealing disease, more than glaucoma and cataracts combined, according to the American Macular Degeneration Foundation.By 2020, as the population ages, that number is expected to double.In addition, says Dr. Karl Csaky (pronounced like chalky) of the Retina Foundation of the Southwest, "more severe forms will be more of an issue."
"People who are in their 70s and 80s are extremely active," says Csaky, head of the foundation's Harrington Molecular Laboratory and an ophthalmologist with Texas Retina Associates. "If you had even a relatively small disturbance in vision, that could be extremely devastating in terms of what you're used to doing."Some vision disturbances, such as difficulty reading small print, are inherent with aging. The lenses of our eyes change and can no longer focus close up, so we rely on reading glasses.
Macular degeneration goes beyond the normal aging process. It affects the center of the retina; specifically, the 0.1 percent that's responsible for 99.9 percent of our fine vision, Csaky says."Unfortunately," Csaky says, "the central part is what gives you quality of life, the ability to read, drive, play golf, to discern faces."
He uses the analogy of a camera to explain the difference between normal eye aging and macular degeneration."The lens of the eye is like the lens of a camera," he says. "Cataracts are when the lens of the camera gets cloudy and the picture gets fuzzy. The solution? Change your lens, which is what cataract surgery is."In macular degeneration, your film has gotten old. We can change lenses, put in a special lens, and still have a bad picture because the film is starting to decay."
Macular degeneration has no cure, but those involved in studying and treating it point out glimmers of hope:Though it may cause legal blindness, rendering some victims unable to drive or read, it won't cause total blindness.Most kinds never progress past the initial stage. Diagnosis is not "a death sentence for vision," Csaky says.
Treatments can slow down and sometimes reverse the more severe cases of the condition. Diagnostic tools can catch it in its early stages.To check for it, "We dilate your eyes, use a lens and look for yellow spots (drusen) or pigmentation changes or bleeding," says Dr. Yuguang He, associate professor of ophthalmology at the University of Texas Southwestern Medical Center and a specialist in age-related macular degeneration. "It's not like it takes a blood test or X-ray to diagnose. We just look at it."
The sooner it's found, the better, he says. "There is a window in which we can do treatments."Most treatments are geared toward the more advanced form called wet macular degeneration. The early stage is called dry, which can progress to late-severe dry and sometimes lead to wet.Progression from the dry form to wet can be rapid. Tyler went to a doctor when she first had symptoms, so he was able to diagnose the disease early. Thus, she's been able to receive a relatively new and often successful treatment: a monthly shot directly into each of her eyes."It's psychologically and emotionally very draining," says Tyler, whose father has the dry variety of the disease.
The shot, explains Csaky, her doctor, inhibits a protein responsible for blood vessels growing and bleeding under the retina."We're not curing the disease," he says. "We're inhibiting, with a drug, a protein that's constantly being made, and with the injection it disappears for four to six weeks. The blood vessels are still there in a dormant state. If you don't treat them, they start to grow back."It's not comfortable, but patients tolerate it well, he says, though occasionally "we have a loved one faint who's watching. We use a topical anesthetic and a very, very small needle."
Although there is no surefire way to prevent the disease, studies have shown that eating fish two or more times per week helps reduce the risk, he says. "I take fish oil. I'm 54 years old and take it not only to prevent AMD but also to protect my heart, help my cholesterol. I tell patients, something good for your heart has to be good for your eyes."He also points out the Age-Related Eye Disease study of the National Eye Institution. Participants took large quantities of vitamins A and C, as well as zinc, copper and beta carotene. The regimen neither prevents the disease nor, in the study, did it have any effect on the dry form, but it "slowed the progression of the wet variety by 20 percent," he says.
Tyler, who declined to give her age, manages her ailment as best she can, getting injections and participating in a study. She is constantly aware of her surroundings, on the lookout for any line in a grid that appears curvy or wavy. She checks the spindles on her staircase, "whatever's around me," for possible distortion."It was never even in my mind, as driven and focused as I am in my career, that I wouldn't be responsive to it," she says. "It's your vision for heaven's sake. How scary is that?
"You can work with it and make it a positive thing, or it can devastate you. You make these choices in life. What am I going to do about it? Is it going to define me, or am I going to help define it?"Age-related macular degeneration (AMD) is the No. 1 cause of irreversible vision loss among senior citizens, according to the Retina Foundation of the Southwest. Some risk factors:
Caucasians are more likely to contract AMD than other races."If you're a Caucasian older than 65, there's a 20 percent chance you'll get it," says Dr. Yuguang He, associate professor of ophthalmology at UT Southwestern Medical Center. "If you're Chinese or Japanese, less than 5 percent. African-Americans have it much less than Caucasians."Yet, "as the Japanese adopted our diet, their incidence has gone up," says Dr. Karl Csaky of the Retina Foundation of the Southwest and Texas Retina Associates.
Smoking increases incidence."Cigarette smokers are 20 times more likely to develop AMD than nonsmokers," he says. "The chances are very, very high."
If one eye is affected, the other eye will be, too.It's important to periodically cover up the eye that has it to see whether the other eye is seeing distortions, too.Genetics play a factor."If your parents have it, there's an increased risk you'll get it, but it's not a guarantee," he says. "We're still struggling with the practical implications of these genetic associations other than scaring people."
DALLAS — Jennifer Tyler was driving down a country road in Oklahoma a couple of years ago when she noticed something odd. The telephone poles all had kinks in them.
"I thought, 'Wow, what's all that about?'" says Tyler, a Dallas fundraising consultant. "They all had distinctive bends in the middle."She pulled off the road and called a friend. "I knew something bad was happening," she says. "It was nothing I could ignore."Her friend referred Tyler to Texas Retina Associates. Tyler made an appointment and was diagnosed as having age-related macular degeneration.
AMD is a disease that causes significant vision loss in 1.75 million Americans. More than 10 million suffer from various forms of this potentially sight-stealing disease, more than glaucoma and cataracts combined, according to the American Macular Degeneration Foundation.By 2020, as the population ages, that number is expected to double.In addition, says Dr. Karl Csaky (pronounced like chalky) of the Retina Foundation of the Southwest, "more severe forms will be more of an issue."
"People who are in their 70s and 80s are extremely active," says Csaky, head of the foundation's Harrington Molecular Laboratory and an ophthalmologist with Texas Retina Associates. "If you had even a relatively small disturbance in vision, that could be extremely devastating in terms of what you're used to doing."Some vision disturbances, such as difficulty reading small print, are inherent with aging. The lenses of our eyes change and can no longer focus close up, so we rely on reading glasses.
Macular degeneration goes beyond the normal aging process. It affects the center of the retina; specifically, the 0.1 percent that's responsible for 99.9 percent of our fine vision, Csaky says."Unfortunately," Csaky says, "the central part is what gives you quality of life, the ability to read, drive, play golf, to discern faces."
He uses the analogy of a camera to explain the difference between normal eye aging and macular degeneration."The lens of the eye is like the lens of a camera," he says. "Cataracts are when the lens of the camera gets cloudy and the picture gets fuzzy. The solution? Change your lens, which is what cataract surgery is."In macular degeneration, your film has gotten old. We can change lenses, put in a special lens, and still have a bad picture because the film is starting to decay."
Macular degeneration has no cure, but those involved in studying and treating it point out glimmers of hope:Though it may cause legal blindness, rendering some victims unable to drive or read, it won't cause total blindness.Most kinds never progress past the initial stage. Diagnosis is not "a death sentence for vision," Csaky says.
Treatments can slow down and sometimes reverse the more severe cases of the condition. Diagnostic tools can catch it in its early stages.To check for it, "We dilate your eyes, use a lens and look for yellow spots (drusen) or pigmentation changes or bleeding," says Dr. Yuguang He, associate professor of ophthalmology at the University of Texas Southwestern Medical Center and a specialist in age-related macular degeneration. "It's not like it takes a blood test or X-ray to diagnose. We just look at it."
The sooner it's found, the better, he says. "There is a window in which we can do treatments."Most treatments are geared toward the more advanced form called wet macular degeneration. The early stage is called dry, which can progress to late-severe dry and sometimes lead to wet.Progression from the dry form to wet can be rapid. Tyler went to a doctor when she first had symptoms, so he was able to diagnose the disease early. Thus, she's been able to receive a relatively new and often successful treatment: a monthly shot directly into each of her eyes."It's psychologically and emotionally very draining," says Tyler, whose father has the dry variety of the disease.
The shot, explains Csaky, her doctor, inhibits a protein responsible for blood vessels growing and bleeding under the retina."We're not curing the disease," he says. "We're inhibiting, with a drug, a protein that's constantly being made, and with the injection it disappears for four to six weeks. The blood vessels are still there in a dormant state. If you don't treat them, they start to grow back."It's not comfortable, but patients tolerate it well, he says, though occasionally "we have a loved one faint who's watching. We use a topical anesthetic and a very, very small needle."
Although there is no surefire way to prevent the disease, studies have shown that eating fish two or more times per week helps reduce the risk, he says. "I take fish oil. I'm 54 years old and take it not only to prevent AMD but also to protect my heart, help my cholesterol. I tell patients, something good for your heart has to be good for your eyes."He also points out the Age-Related Eye Disease study of the National Eye Institution. Participants took large quantities of vitamins A and C, as well as zinc, copper and beta carotene. The regimen neither prevents the disease nor, in the study, did it have any effect on the dry form, but it "slowed the progression of the wet variety by 20 percent," he says.
Tyler, who declined to give her age, manages her ailment as best she can, getting injections and participating in a study. She is constantly aware of her surroundings, on the lookout for any line in a grid that appears curvy or wavy. She checks the spindles on her staircase, "whatever's around me," for possible distortion."It was never even in my mind, as driven and focused as I am in my career, that I wouldn't be responsive to it," she says. "It's your vision for heaven's sake. How scary is that?
"You can work with it and make it a positive thing, or it can devastate you. You make these choices in life. What am I going to do about it? Is it going to define me, or am I going to help define it?"Age-related macular degeneration (AMD) is the No. 1 cause of irreversible vision loss among senior citizens, according to the Retina Foundation of the Southwest. Some risk factors:
Caucasians are more likely to contract AMD than other races."If you're a Caucasian older than 65, there's a 20 percent chance you'll get it," says Dr. Yuguang He, associate professor of ophthalmology at UT Southwestern Medical Center. "If you're Chinese or Japanese, less than 5 percent. African-Americans have it much less than Caucasians."Yet, "as the Japanese adopted our diet, their incidence has gone up," says Dr. Karl Csaky of the Retina Foundation of the Southwest and Texas Retina Associates.
Smoking increases incidence."Cigarette smokers are 20 times more likely to develop AMD than nonsmokers," he says. "The chances are very, very high."
If one eye is affected, the other eye will be, too.It's important to periodically cover up the eye that has it to see whether the other eye is seeing distortions, too.Genetics play a factor."If your parents have it, there's an increased risk you'll get it, but it's not a guarantee," he says. "We're still struggling with the practical implications of these genetic associations other than scaring people."
Saturday, January 15, 2011
Aarkstore Enterprise Macular Degeneration, Pipeline Review
by: Pipeline Review,Q4
Aarkstore announce a new report “Macular Degeneration – Pipeline Review, Q4 2010 ” through its vast collection of market research report.
“Macular Degeneration Pipeline Review, Q4 2010”, provides an overview of the Macular Degeneration therapeutic pipeline. This report provides information on the therapeutic development for Macular Degeneration, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Macular Degeneration. “Macular Degeneration-Pipeline Review 2010, Q4 2010” is built using data and information sourced from proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together.
Scope
- A snapshot of the global therapeutic scenario for Macular Degeneration.
- A review of the Macular Degeneration products under development by companies and universities/research institutes based on information derived from company and industry-specific sources.
- Coverage of products based on various stages of development ranging from discovery till registration stages.
- A feature on pipeline projects on the basis of monotherapy and combined therapeutics.
- Coverage of the Macular Degeneration pipeline on the basis of therapeutic class, route of administration and molecule type.
- Profiles of late-stage pipeline products featuring sections on product description, mechanism of action and research & development progress.
- Key discontinued pipeline projects.
- Latest news and deals relating to the products.
- Identify and understand important and diverse types of therapeutics under development for Macular Degeneration.
- Identify emerging players with potentially strong product portfolio and design effective counter-strategies to gain competitive advantage.
- Plan mergers and acquisitions effectively by identifying players with the most promising pipeline.
- Devise corrective measures for pipeline projects by understanding Macular Degeneration pipeline depth and focus of Macular Degeneration therapeutics.
- Develop and design in-licensing and out-licensing strategies by identifying prospective partners with the most attractive projects to enhance and expand business potential and scope.
- Modify the therapeutic portfolio by identifying discontinued projects and understanding the factors that drove them from pipeline., provides an overview of the Macular Degeneration therapeutic pipeline. This report provides information on the therapeutic development for Macular Degeneration, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Macular Degeneration. “Macular Degeneration-Pipeline Review 2010, Q4 2010” is built using data and information sourced from proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together.
Aarkstore announce a new report “Macular Degeneration – Pipeline Review, Q4 2010 ” through its vast collection of market research report.
“Macular Degeneration Pipeline Review, Q4 2010”, provides an overview of the Macular Degeneration therapeutic pipeline. This report provides information on the therapeutic development for Macular Degeneration, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Macular Degeneration. “Macular Degeneration-Pipeline Review 2010, Q4 2010” is built using data and information sourced from proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together.
Scope
- A snapshot of the global therapeutic scenario for Macular Degeneration.
- A review of the Macular Degeneration products under development by companies and universities/research institutes based on information derived from company and industry-specific sources.
- Coverage of products based on various stages of development ranging from discovery till registration stages.
- A feature on pipeline projects on the basis of monotherapy and combined therapeutics.
- Coverage of the Macular Degeneration pipeline on the basis of therapeutic class, route of administration and molecule type.
- Profiles of late-stage pipeline products featuring sections on product description, mechanism of action and research & development progress.
- Key discontinued pipeline projects.
- Latest news and deals relating to the products.
- Identify and understand important and diverse types of therapeutics under development for Macular Degeneration.
- Identify emerging players with potentially strong product portfolio and design effective counter-strategies to gain competitive advantage.
- Plan mergers and acquisitions effectively by identifying players with the most promising pipeline.
- Devise corrective measures for pipeline projects by understanding Macular Degeneration pipeline depth and focus of Macular Degeneration therapeutics.
- Develop and design in-licensing and out-licensing strategies by identifying prospective partners with the most attractive projects to enhance and expand business potential and scope.
- Modify the therapeutic portfolio by identifying discontinued projects and understanding the factors that drove them from pipeline., provides an overview of the Macular Degeneration therapeutic pipeline. This report provides information on the therapeutic development for Macular Degeneration, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Macular Degeneration. “Macular Degeneration-Pipeline Review 2010, Q4 2010” is built using data and information sourced from proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together.
Sunday, January 9, 2011
FDA Approves Company's Clinical Trial Of hESCs- based Treatment for AMD
by: Advanced Cell Technology, Inc.
Advanced Cell Technology, Inc. (OTCBB: ACTC), a regenerative medicine company based in Marlborough, Mass., announced on January 3 that the U.S. Food and Drug Administration (FDA) has cleared its Investigational New Drug (IND) application to treat dry age-related macular degeneration (AMD) using retinal pigment epithelial (RPE) cells derived from human embryonic stem cells (hESCs).
ACT is now permitted to launch a Phase 1-2 multicenter clinical trial to treat patients with dry AMD, the most common form of macular degeneration in the world.
There are no treatments available for this prevalent disease of an aging global population. According to the company, dry AMD, representing a substantial global market opportunity and afflicts between 10-15 million Americans.
Age-Related Macular Degeneration has two predominant forms, wet and dry. Dry AMD is the most common form, accounting for almost 90 percent of all cases. The progress of dry AMD includes a breakdown or thinning of the layer of RPE cells in the patient’s macula, the region at the center of the retina responsible for high acuity vision. Over time, the progressive loss of RPE cells and accompanying loss of photoreceptors can cause severe vision loss and even blindness.
“ACT is now the first company to receive FDA clearance for two hESC trials, and is now a true translational leader in the field of regenerative medicine,” said interim CEO Gary Rabin. “It marks a major step forward, not just within the stem cell sector, but, potentially for modern healthcare techniques. We plan to proceed into the clinic with both of our hESC-based programs as quickly as possible.”
The Phase 1-2 trial will be a prospective, open-label study that is designed to determine the safety and tolerability of the RPE cells following sub-retinal transplantation into patients with dry AMD. Twelve patients will be enrolled in the study at multiple clinical sites. Sites currently under consideration are the Jules Stein Eye Institute at UCLA, and the Ophthalmology Department at Stanford University School of Medicine. Additional sites may be considered.
“Dry AMD is the leading cause of blindness in individuals over the age of 55,” said Robert Lanza, M.D., chief scientific officer. “As the population ages, the incidence of AMD is expected to double over the next 20 years, further exacerbating this unmet medical need. Using our clinical-grade hESC lines, we are able to generate a virtually unlimited and reproducible supply of healthy RPE cells. Because only a small number of cells (50-200K) are needed to treat each patient, manufacturing and distribution of the therapeutic product is scalable with many similarities to the drug businesses that pharmaceutical companies understand well. Based on our animal model studies, we are very excited about the opportunity to treat patients. In a rat model of macular degeneration, we have seen a remarkable improvement in visual performance over untreated animals, without any adverse effects. We have also maintained near-normal function in a mouse model of Stargardt’s Disease, a form of juvenile macular degeneration. In addition to this trial, we plan to concurrently use our RPE cells in our Phase I/II Clinical Trial for Stargardt’s Disease, which received the green light from the FDA in November. We hope to see a similar benefit in both Stargardt’s Disease and Dry AMD patients.”
ACT’s dry AMD therapeutic program uses RPE cells derived from hESCs to replace the lost RPE cells in the patient’s eyes. ACT’s proprietary RPE cell manufacturing process is protected by a number of broad patents, as is the use of hESC-derived RPE cells for treating macular degeneration. While the initial portion of the clinical trial will focus on safety, in subsequent clinical trials the company hopes to demonstrate that the RPE cells injected into the retinal space will be capable of slowing or halting progression of the disease, and potentially even restoring some visual acuity to patients.
“It is estimated that over ten million Europeans suffer from age-related macular degeneration, representing a vast unmet need and a significant market opportunity,” commented Edmund Mickunas, vice president of regulatory affairs. “We are moving ahead aggressively to seek regulatory clearance from the European Medicines Agency to conduct clinical trials in Europe.”
Advanced Cell Technology, Inc. (OTCBB: ACTC), a regenerative medicine company based in Marlborough, Mass., announced on January 3 that the U.S. Food and Drug Administration (FDA) has cleared its Investigational New Drug (IND) application to treat dry age-related macular degeneration (AMD) using retinal pigment epithelial (RPE) cells derived from human embryonic stem cells (hESCs).
ACT is now permitted to launch a Phase 1-2 multicenter clinical trial to treat patients with dry AMD, the most common form of macular degeneration in the world.
There are no treatments available for this prevalent disease of an aging global population. According to the company, dry AMD, representing a substantial global market opportunity and afflicts between 10-15 million Americans.
Age-Related Macular Degeneration has two predominant forms, wet and dry. Dry AMD is the most common form, accounting for almost 90 percent of all cases. The progress of dry AMD includes a breakdown or thinning of the layer of RPE cells in the patient’s macula, the region at the center of the retina responsible for high acuity vision. Over time, the progressive loss of RPE cells and accompanying loss of photoreceptors can cause severe vision loss and even blindness.
“ACT is now the first company to receive FDA clearance for two hESC trials, and is now a true translational leader in the field of regenerative medicine,” said interim CEO Gary Rabin. “It marks a major step forward, not just within the stem cell sector, but, potentially for modern healthcare techniques. We plan to proceed into the clinic with both of our hESC-based programs as quickly as possible.”
The Phase 1-2 trial will be a prospective, open-label study that is designed to determine the safety and tolerability of the RPE cells following sub-retinal transplantation into patients with dry AMD. Twelve patients will be enrolled in the study at multiple clinical sites. Sites currently under consideration are the Jules Stein Eye Institute at UCLA, and the Ophthalmology Department at Stanford University School of Medicine. Additional sites may be considered.
“Dry AMD is the leading cause of blindness in individuals over the age of 55,” said Robert Lanza, M.D., chief scientific officer. “As the population ages, the incidence of AMD is expected to double over the next 20 years, further exacerbating this unmet medical need. Using our clinical-grade hESC lines, we are able to generate a virtually unlimited and reproducible supply of healthy RPE cells. Because only a small number of cells (50-200K) are needed to treat each patient, manufacturing and distribution of the therapeutic product is scalable with many similarities to the drug businesses that pharmaceutical companies understand well. Based on our animal model studies, we are very excited about the opportunity to treat patients. In a rat model of macular degeneration, we have seen a remarkable improvement in visual performance over untreated animals, without any adverse effects. We have also maintained near-normal function in a mouse model of Stargardt’s Disease, a form of juvenile macular degeneration. In addition to this trial, we plan to concurrently use our RPE cells in our Phase I/II Clinical Trial for Stargardt’s Disease, which received the green light from the FDA in November. We hope to see a similar benefit in both Stargardt’s Disease and Dry AMD patients.”
ACT’s dry AMD therapeutic program uses RPE cells derived from hESCs to replace the lost RPE cells in the patient’s eyes. ACT’s proprietary RPE cell manufacturing process is protected by a number of broad patents, as is the use of hESC-derived RPE cells for treating macular degeneration. While the initial portion of the clinical trial will focus on safety, in subsequent clinical trials the company hopes to demonstrate that the RPE cells injected into the retinal space will be capable of slowing or halting progression of the disease, and potentially even restoring some visual acuity to patients.
“It is estimated that over ten million Europeans suffer from age-related macular degeneration, representing a vast unmet need and a significant market opportunity,” commented Edmund Mickunas, vice president of regulatory affairs. “We are moving ahead aggressively to seek regulatory clearance from the European Medicines Agency to conduct clinical trials in Europe.”
Sunday, January 2, 2011
Case Western Reserve receives $10 million to study Retina Disease
by: Jessica Studeny
The Departments of Pharmacology and Ophthalmology and Visual Sciences at Case Western Reserve University School of Medicine have been awarded a $10.1 million grant from the National Eye Institute (NEI) to research and develop new treatments for diseases of the retina, a leading cause of blindness.
"The grant strongly positions the School of Medicine and collaborating organizations to play a significant role in advancing the treatment of retinal diseases in order to restore quality of life to countless patients," said Jonathan H. Lass, MD, professor and chair of the Department of Ophthalmology and Visual Sciences at Case Western Reserve School of Medicine and director of the University Hospitals Eye Institute. "It is the largest grant of its kind ever awarded to the university by the National Eye Institute, a tremendous achievement."
The NEI, part of the National Institutes of Health (NIH), will award the grant over five years, funding the work of researchers in the Departments of Pharmacology, Ophthalmology, and Biomedical Engineering at the School of Medicine who are working in collaboration with the Retinal Therapeutics Study Group. This interdisciplinary consortium of investigators is screening FDA-approved drugs for their potential application to the treatment of eye diseases affecting the retina.
The combined group, which also includes researchers from the Cincinnati Drug Discovery Center, the University of Pennsylvania and Washington University, aims to accelerate the rate at which basic science discoveries are used to develop new therapies for complex retinal disorders and diseases.
Conditions affecting the retina, the tissue in back of the eye responsible for vision, are a primary cause of blindness in adults in the United States. Such diseases include age-related macular degeneration (AMD), the main cause of blindness in adults over the age of 55. More than 1.3 million people in the U.S. are legally blind and 8 to 10 million aging individuals show signs of developing AMD, an incurable eye disease characterized by damage to the retina and the loss of central daylight vision.
"The research being funded by the NIH is critical to availing patients of new, more effective treatments, particularly for diseases like AMD, for which there is currently no cure," says Krzysztof Palczewski, PhD, John H. Hord Professor, chair of the Department of Pharmacology, and principal investigator and director of the research funded by the new NEI grant. "Our goal is to develop new drugs based on the screening of FDA-approved drugs to evaluate their effectiveness in treating retinal diseases."
Researchers will employ a range of scientific expertise and state-of-the-art physiological, chemical and analytical imaging technologies to test potential retinal disease therapies in basic research models. A non-invasive imaging technology developed at Case Western Reserve by Dr. Palczewski's research group will facilitate monitoring of the retina to detect molecular changes, defects, or harmful toxins in the retina.
FDA-approved drugs will be screened for their potential application in research models engineered to mimic conditions such as AMD, Stargardt's disease (a form of inherited juvenile macular degeneration) and retinitis pigmentosa (a group of inherited retinal disorders characterized by progressive peripheral vision loss). The drug-screening process is designed to accelerate the process of drug development before clinical testing in humans.
Dr. Palczewski is working with researcher Akiko Maeda, MD, PhD, senior instructor in the Departments of Ophthalmology and Pharmacology; and Zheng-Rong Lu, PhD, professor of biomedical engineering; to hone in on existing drugs with chemical properties and initial research results that suggest they may provide a basis for developing new drugs for treating retinal diseases like AMD.
The research builds upon previous work in Dr. Palczewski's laboratory which identified mechanisms in the eye responsible for metabolizing vitamin A, an essential step in triggering the nerve signals sent to the brain to enable vision. Researchers determined that in healthy patients, this visual cycle operates rapidly. However, in older patients and those with AMD and Stargardt-like diseases, one of the critical biochemical reactions in the series that recycle vitamin A is slowed. This allows a toxic byproduct produced by the breakdown of vitamin A to accumulate, which damages the retina over time, probably contributing to the development of AMD and/or impairing vision.
The combined teams in Ophthalmology and Pharmacology are now looking for drugs that can target the mechanism that captures toxic vitamin A metabolites, to neutralize and counter the build-up of any visual cycle toxic byproduct, as a means of preventing or controlling retinal diseases. "Current treatments for AMD focus on management of the late stages of the disease. These studies could result in treatments at the earlier stages and save more vision as a result" says Dr. Lass.
In addition to testing existing FDA-approved drugs for their ability to reduce toxic substances within the retina, priorities for the NIH-funded research also include evaluating existing FDA-approved drugs as potential lead compounds for retinal diseases because these drugs have already been proven safe and effective in basic research and clinical studies for other indications. Researchers will likewise assess the ability of potential compounds to penetrate and remain in the eye without negatively affecting vision and they will explore and develop new drug delivery systems to achieve and maintain therapeutic drug concentrations in the eye.
"We have an idea as to what drugs could be most effective for our purposes," said Dr. Maeda, who relocated from Japan to the United States to work with Dr. Palczewski. She is the study's co-principal investigator and a group leader who is responsible for basic research models. "During my clinical practice in ophthalmology, I was very frustrated with the lack of treatment options for many patients with retinal degenerative diseases, and I became determined to dedicate myself to developing new treatments for these patients through basic science research. I am very excited to develop our ideas for treating currently incurable retinal diseases."
Dr. Palczewski and his team have already examined 24 FDA-approved drugs, from antibiotics to drugs fighting cancer and infectious diseases, for their ability to attack the buildup of harmful toxins in the retina. These studies were done with mice that were genetically engineered to mimic Stargardt's disease. At least 16 of the drugs tested have already demonstrated the potential to limit the progression of retinal diseases. The resulting data provided the basis for funding the $10 million NIH grant request.
About Case Western Reserve University School of Medicine
Founded in 1843, Case Western Reserve University School of Medicine is the largest medical research institution in Ohio and is among the nation's top medical schools for research funding from the National Institutes of Health. The School of Medicine is recognized throughout the international medical community for outstanding achievements in teaching. The School's innovative and pioneering Western Reserve2 curriculum interweaves four themes--research and scholarship, clinical mastery, leadership, and civic professionalism--to prepare students for the practice of evidence-based medicine in the rapidly changing health care environment of the 21st century. Nine Nobel Laureates have been affiliated with the school of medicine.
Annually, the School of Medicine trains more than 800 MD and MD/PhD students and ranks in the top 20 among U.S. research-oriented medical schools as designated by U.S. News & World Report "Guide to Graduate Education."
The School of Medicine's primary affiliate is University Hospitals Case Medical Center and is additionally affiliated with MetroHealth Medical Center, the Louis Stokes Cleveland Department of Veterans Affairs Medical Center, and the Cleveland Clinic, with which it established the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University in 2002.
The Departments of Pharmacology and Ophthalmology and Visual Sciences at Case Western Reserve University School of Medicine have been awarded a $10.1 million grant from the National Eye Institute (NEI) to research and develop new treatments for diseases of the retina, a leading cause of blindness.
"The grant strongly positions the School of Medicine and collaborating organizations to play a significant role in advancing the treatment of retinal diseases in order to restore quality of life to countless patients," said Jonathan H. Lass, MD, professor and chair of the Department of Ophthalmology and Visual Sciences at Case Western Reserve School of Medicine and director of the University Hospitals Eye Institute. "It is the largest grant of its kind ever awarded to the university by the National Eye Institute, a tremendous achievement."
The NEI, part of the National Institutes of Health (NIH), will award the grant over five years, funding the work of researchers in the Departments of Pharmacology, Ophthalmology, and Biomedical Engineering at the School of Medicine who are working in collaboration with the Retinal Therapeutics Study Group. This interdisciplinary consortium of investigators is screening FDA-approved drugs for their potential application to the treatment of eye diseases affecting the retina.
The combined group, which also includes researchers from the Cincinnati Drug Discovery Center, the University of Pennsylvania and Washington University, aims to accelerate the rate at which basic science discoveries are used to develop new therapies for complex retinal disorders and diseases.
Conditions affecting the retina, the tissue in back of the eye responsible for vision, are a primary cause of blindness in adults in the United States. Such diseases include age-related macular degeneration (AMD), the main cause of blindness in adults over the age of 55. More than 1.3 million people in the U.S. are legally blind and 8 to 10 million aging individuals show signs of developing AMD, an incurable eye disease characterized by damage to the retina and the loss of central daylight vision.
"The research being funded by the NIH is critical to availing patients of new, more effective treatments, particularly for diseases like AMD, for which there is currently no cure," says Krzysztof Palczewski, PhD, John H. Hord Professor, chair of the Department of Pharmacology, and principal investigator and director of the research funded by the new NEI grant. "Our goal is to develop new drugs based on the screening of FDA-approved drugs to evaluate their effectiveness in treating retinal diseases."
Researchers will employ a range of scientific expertise and state-of-the-art physiological, chemical and analytical imaging technologies to test potential retinal disease therapies in basic research models. A non-invasive imaging technology developed at Case Western Reserve by Dr. Palczewski's research group will facilitate monitoring of the retina to detect molecular changes, defects, or harmful toxins in the retina.
FDA-approved drugs will be screened for their potential application in research models engineered to mimic conditions such as AMD, Stargardt's disease (a form of inherited juvenile macular degeneration) and retinitis pigmentosa (a group of inherited retinal disorders characterized by progressive peripheral vision loss). The drug-screening process is designed to accelerate the process of drug development before clinical testing in humans.
Dr. Palczewski is working with researcher Akiko Maeda, MD, PhD, senior instructor in the Departments of Ophthalmology and Pharmacology; and Zheng-Rong Lu, PhD, professor of biomedical engineering; to hone in on existing drugs with chemical properties and initial research results that suggest they may provide a basis for developing new drugs for treating retinal diseases like AMD.
The research builds upon previous work in Dr. Palczewski's laboratory which identified mechanisms in the eye responsible for metabolizing vitamin A, an essential step in triggering the nerve signals sent to the brain to enable vision. Researchers determined that in healthy patients, this visual cycle operates rapidly. However, in older patients and those with AMD and Stargardt-like diseases, one of the critical biochemical reactions in the series that recycle vitamin A is slowed. This allows a toxic byproduct produced by the breakdown of vitamin A to accumulate, which damages the retina over time, probably contributing to the development of AMD and/or impairing vision.
The combined teams in Ophthalmology and Pharmacology are now looking for drugs that can target the mechanism that captures toxic vitamin A metabolites, to neutralize and counter the build-up of any visual cycle toxic byproduct, as a means of preventing or controlling retinal diseases. "Current treatments for AMD focus on management of the late stages of the disease. These studies could result in treatments at the earlier stages and save more vision as a result" says Dr. Lass.
In addition to testing existing FDA-approved drugs for their ability to reduce toxic substances within the retina, priorities for the NIH-funded research also include evaluating existing FDA-approved drugs as potential lead compounds for retinal diseases because these drugs have already been proven safe and effective in basic research and clinical studies for other indications. Researchers will likewise assess the ability of potential compounds to penetrate and remain in the eye without negatively affecting vision and they will explore and develop new drug delivery systems to achieve and maintain therapeutic drug concentrations in the eye.
"We have an idea as to what drugs could be most effective for our purposes," said Dr. Maeda, who relocated from Japan to the United States to work with Dr. Palczewski. She is the study's co-principal investigator and a group leader who is responsible for basic research models. "During my clinical practice in ophthalmology, I was very frustrated with the lack of treatment options for many patients with retinal degenerative diseases, and I became determined to dedicate myself to developing new treatments for these patients through basic science research. I am very excited to develop our ideas for treating currently incurable retinal diseases."
Dr. Palczewski and his team have already examined 24 FDA-approved drugs, from antibiotics to drugs fighting cancer and infectious diseases, for their ability to attack the buildup of harmful toxins in the retina. These studies were done with mice that were genetically engineered to mimic Stargardt's disease. At least 16 of the drugs tested have already demonstrated the potential to limit the progression of retinal diseases. The resulting data provided the basis for funding the $10 million NIH grant request.
About Case Western Reserve University School of Medicine
Founded in 1843, Case Western Reserve University School of Medicine is the largest medical research institution in Ohio and is among the nation's top medical schools for research funding from the National Institutes of Health. The School of Medicine is recognized throughout the international medical community for outstanding achievements in teaching. The School's innovative and pioneering Western Reserve2 curriculum interweaves four themes--research and scholarship, clinical mastery, leadership, and civic professionalism--to prepare students for the practice of evidence-based medicine in the rapidly changing health care environment of the 21st century. Nine Nobel Laureates have been affiliated with the school of medicine.
Annually, the School of Medicine trains more than 800 MD and MD/PhD students and ranks in the top 20 among U.S. research-oriented medical schools as designated by U.S. News & World Report "Guide to Graduate Education."
The School of Medicine's primary affiliate is University Hospitals Case Medical Center and is additionally affiliated with MetroHealth Medical Center, the Louis Stokes Cleveland Department of Veterans Affairs Medical Center, and the Cleveland Clinic, with which it established the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University in 2002.
Monday, December 27, 2010
Age-Related Macular Degeneration Research from University of Bristol
by: University
"Neovascular age-related macular degeneration (nvAMD) is a chronic, progressive disease of the central retina, and its prevalence is expected to rise with the aging population. Using a bottom-up approach based on retrospective data, this cross-sectional study estimated average annual direct costs of nvAMD to be A 4,047 pound, and average annual indirect costs to be A 449 pound," scientists in Bristol, the United Kingdom report.
"An attempt to measure intangible costs through willingness-to-pay yielded a lower response rate and estimated intangible costs to be 11.5% of monthly income. Direct costs were significantly higher for male participants, for those who have mild or moderate visual impairment in both eyes, and for those who have been diagnosed for a shorter time," wrote K.M. Ke and colleagues, University of Bristol.
The researchers concluded: "The findings of this study suggest that the availability of early diagnosis, effective treatment, support services, and sustained research into the management of nvAMD may reduce the burden of visual impairment caused by nvAMD to affected individuals and the state."
Ke and colleagues published their study in European Journal of Health Economics (The direct, indirect and intangible costs of visual impairment caused by neovascular age-related macular degeneration. European Journal of Health Economics, 2010;11(6):525-531).
For additional information, contact K.M. Ke, University of Bristol, Bristol Dental School, Dept. of Oral & Dental Science, Lower Maudlin St., Bristol BS1 2LY, Avon, UK.
The publisher's contact information for the European Journal of Health Economics is: Springer, 233 Spring St., New York, NY 10013, USA.
Keywords: City:Bristol, Country:United Kingdom, Age-Related Macular Degeneration, Retinal Degeneration, Retinal Diseases
"Neovascular age-related macular degeneration (nvAMD) is a chronic, progressive disease of the central retina, and its prevalence is expected to rise with the aging population. Using a bottom-up approach based on retrospective data, this cross-sectional study estimated average annual direct costs of nvAMD to be A 4,047 pound, and average annual indirect costs to be A 449 pound," scientists in Bristol, the United Kingdom report.
"An attempt to measure intangible costs through willingness-to-pay yielded a lower response rate and estimated intangible costs to be 11.5% of monthly income. Direct costs were significantly higher for male participants, for those who have mild or moderate visual impairment in both eyes, and for those who have been diagnosed for a shorter time," wrote K.M. Ke and colleagues, University of Bristol.
The researchers concluded: "The findings of this study suggest that the availability of early diagnosis, effective treatment, support services, and sustained research into the management of nvAMD may reduce the burden of visual impairment caused by nvAMD to affected individuals and the state."
Ke and colleagues published their study in European Journal of Health Economics (The direct, indirect and intangible costs of visual impairment caused by neovascular age-related macular degeneration. European Journal of Health Economics, 2010;11(6):525-531).
For additional information, contact K.M. Ke, University of Bristol, Bristol Dental School, Dept. of Oral & Dental Science, Lower Maudlin St., Bristol BS1 2LY, Avon, UK.
The publisher's contact information for the European Journal of Health Economics is: Springer, 233 Spring St., New York, NY 10013, USA.
Keywords: City:Bristol, Country:United Kingdom, Age-Related Macular Degeneration, Retinal Degeneration, Retinal Diseases
Monday, December 20, 2010
Genetic Testing for AMD is here Today
by:Diana Shechtman OD FAAO & Steven Ferrucci OD FAAO
Age-Related macular degeneration (AMD) is a progressive disease and the leading cause of vision loss among the elderly, affecting central vision required for daily activities such as driving and reading. There are a number of factors affecting AMD, such as advanced age, smoking, UV exposure, overall health (that contribute to high blood pressure, obesity, diet) and family history. Many factors may be modified and yet others like genetics cannot. Although AMD may seem to be hereditary in some families and not others, genetics have been shown to contribute significantly to the disease. Multiple twin and sibling studies have collaborated to the familial nature of the disease. First-degree relatives of patients with AMD are at a significantly increased risk for the disease. Furthermore, large epidemiological studies have suggested a strong genetic risk factor for AMD. In fact, the risk of developing AMD increases 4 fold among patients with a positive family history. In 2005 a breakthrough occurred in the area of genetic research and AMD; Klein and associates discovered a strong link between AMD and certain genetic variants. Similarly, numerous other genes have been implicated in AMD, which may increase the risk of AMD up to 70%.
Until recently there was no test to help determined patient’s inherited risk for AMD. Today, Macula Risk (ArcticDX, Toronto, Ontario) is a genetic test specifically designed to determine genetic predisposition to AMD and vision loss attributed to the more advanced stage of the disease.
Macula Risk genetic test separates individuals into one of 5 macula risk (MR) categories, with MR 3 through 5 representing an increased risk for the more advance stage of the disease. This accounts for approximately 20% of the general population. MR1 has less than a 5% risk of the advanced stage of the disease, while MR 5 carries greater than 55% risk. These results can aid the doctor in devising a specific management plan and follow-up protocol in order to reassure early intervention to prevent vision loss.
The test only requires a simple in-office cheek swab, which is sent directly to the genetic lab. The report includes test results and written genetic support information (including access to genetic counseling). Macula Risk genetic testing is covered by most insurance providers, including Medicare, as long as the specific diagnosis (ICD-9) are identified by the doctor. The prognostic genetic test is intended for patients who have a diagnosis of early or intermediate AMD. Thus, the “at risk patient,” would have to pay a fee for the test.
Despite our best efforts and new treatment options available today, many people are still losing vision from AMD. New advancements in the area of AMD are becoming an integral part in preventing future visual deterioration. AMD is affected by both environmental and genetic factors that interact with one another to determine prevalence and progression of the disease. Furthermore, at this time we do not know all of the genes linked to AMD. Hence, genetic testing in the area of AMD is only a risk indicator and cannot predict “without a shadow of a doubt,” which patients will and which will not develop the disease. However, this test provides a genetic profile screening to help identify those at risk as well as aids in tailoring a distinct management approach for those with the disease. With various researches devoted to treatment options for AMD, genetic testing in the area of AMD is at the frontier of providing crucial information.
REFERENCES
1. Swaroop, Branham KE, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet 2007; 16: 174-82.
2. Klein ML, Mauldin WM, Stoumbos VD. Heredity and age-related macular degeneration. Observations in monozygotic twins. Arch Ophthalmol. 1994; 112: 932-7.
3. Meyers SM, Greene T, Gutman FA. A twin study of age-related macular degeneration. Am J Ophthalmol. 1995; 120: 757-66.
4. Heiba IM, Elston RC, Klein BE, et al. Sibling correlations and segregation analysis of age-related maculopathy: The Beaver Dam Eye Study. Genet Epidemiol. 1994; 11: 51-67.
5. Klaver CC, Wolfs RC, Assink JJ, et al. Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol. 1998; 116: 1646-51.
6. Seddon JM, Ajani UA, Mitchell BD. Familial aggregation of age-related maculopathy. Am J Ophthalmol. 1997; 123: 199-206.
7. Klein RJ, Zeiss C, Chew EY, et al. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science 2005; 308: 385-389.
8. Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci 2009; 50 (65): 2044-53.
9. www.macularisk.com/en/physicians/order.html (accessed Dec. 14th , 2010)
Age-Related macular degeneration (AMD) is a progressive disease and the leading cause of vision loss among the elderly, affecting central vision required for daily activities such as driving and reading. There are a number of factors affecting AMD, such as advanced age, smoking, UV exposure, overall health (that contribute to high blood pressure, obesity, diet) and family history. Many factors may be modified and yet others like genetics cannot. Although AMD may seem to be hereditary in some families and not others, genetics have been shown to contribute significantly to the disease. Multiple twin and sibling studies have collaborated to the familial nature of the disease. First-degree relatives of patients with AMD are at a significantly increased risk for the disease. Furthermore, large epidemiological studies have suggested a strong genetic risk factor for AMD. In fact, the risk of developing AMD increases 4 fold among patients with a positive family history. In 2005 a breakthrough occurred in the area of genetic research and AMD; Klein and associates discovered a strong link between AMD and certain genetic variants. Similarly, numerous other genes have been implicated in AMD, which may increase the risk of AMD up to 70%.
Until recently there was no test to help determined patient’s inherited risk for AMD. Today, Macula Risk (ArcticDX, Toronto, Ontario) is a genetic test specifically designed to determine genetic predisposition to AMD and vision loss attributed to the more advanced stage of the disease.
Macula Risk genetic test separates individuals into one of 5 macula risk (MR) categories, with MR 3 through 5 representing an increased risk for the more advance stage of the disease. This accounts for approximately 20% of the general population. MR1 has less than a 5% risk of the advanced stage of the disease, while MR 5 carries greater than 55% risk. These results can aid the doctor in devising a specific management plan and follow-up protocol in order to reassure early intervention to prevent vision loss.
The test only requires a simple in-office cheek swab, which is sent directly to the genetic lab. The report includes test results and written genetic support information (including access to genetic counseling). Macula Risk genetic testing is covered by most insurance providers, including Medicare, as long as the specific diagnosis (ICD-9) are identified by the doctor. The prognostic genetic test is intended for patients who have a diagnosis of early or intermediate AMD. Thus, the “at risk patient,” would have to pay a fee for the test.
Despite our best efforts and new treatment options available today, many people are still losing vision from AMD. New advancements in the area of AMD are becoming an integral part in preventing future visual deterioration. AMD is affected by both environmental and genetic factors that interact with one another to determine prevalence and progression of the disease. Furthermore, at this time we do not know all of the genes linked to AMD. Hence, genetic testing in the area of AMD is only a risk indicator and cannot predict “without a shadow of a doubt,” which patients will and which will not develop the disease. However, this test provides a genetic profile screening to help identify those at risk as well as aids in tailoring a distinct management approach for those with the disease. With various researches devoted to treatment options for AMD, genetic testing in the area of AMD is at the frontier of providing crucial information.
REFERENCES
1. Swaroop, Branham KE, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet 2007; 16: 174-82.
2. Klein ML, Mauldin WM, Stoumbos VD. Heredity and age-related macular degeneration. Observations in monozygotic twins. Arch Ophthalmol. 1994; 112: 932-7.
3. Meyers SM, Greene T, Gutman FA. A twin study of age-related macular degeneration. Am J Ophthalmol. 1995; 120: 757-66.
4. Heiba IM, Elston RC, Klein BE, et al. Sibling correlations and segregation analysis of age-related maculopathy: The Beaver Dam Eye Study. Genet Epidemiol. 1994; 11: 51-67.
5. Klaver CC, Wolfs RC, Assink JJ, et al. Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol. 1998; 116: 1646-51.
6. Seddon JM, Ajani UA, Mitchell BD. Familial aggregation of age-related maculopathy. Am J Ophthalmol. 1997; 123: 199-206.
7. Klein RJ, Zeiss C, Chew EY, et al. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science 2005; 308: 385-389.
8. Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci 2009; 50 (65): 2044-53.
9. www.macularisk.com/en/physicians/order.html (accessed Dec. 14th , 2010)
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