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For Rare Disease Day, Help Us Fight Retinal Diseases

logo - Rare Disease DaySince its inception in 1971, the Foundation Fighting Blindness has focused its efforts on helping people with rare diseases. In the United States, a rare disease is defined as that which affects fewer than 200,000 people. And, in fact, most vision-robbing retinal diseases—retinitis pigmentosa, Stargardt disease and Usher syndrome included—fall into that category.

But when we add up all of the diseases FFB targets, that number reaches the millions. And when you move beyond retinal diseases, to the more than 6,000 rare diseases affecting people worldwide, the number is in the tens of millions.

That’s why, once again, we’re joining other non-profits around the globe in recognizing Rare Disease Day, which takes place every February 28 as a means of raising awareness about these diseases and the negative impact they have on the affected and their families. Here’s this year’s official video:

FFB would like to go one step further, by asking people to recognize Rare Disease Day by donating specifically to the Foundation. More than four decades after it was founded, FFB is now funding and/or supporting researchers moving closer, each year, to developing treatments and cures for retinal diseases. But that research, especially in the clinical-trial phases, demands considerable funding.

So we’re asking that you help us recognize Rare Disease Day by contributing to the Foundation’s #RareAndWorthy campaign. The money you contribute will go directly toward funding research that will, one day, eradicate the many rare retinal diseases robbing millions of their eyesight.

I ask that you share the message of Rare Disease Day with others while letting them know how they can positively impact a visually impaired person’s life.


8 Responses to 'For Rare Disease Day, Help Us Fight Retinal Diseases'

  1. Kathleen says:

    Could you send me the latest research on Retinitis pigmentosa.

  2. Liliana says:

    Do uou know any treatment for Stargard Disease?

    • EyeOnTheCure says:

      You will be pleased to know that the Foundation Fighting Blindness is partnering with Sanofi Pharmaceuticals on a gene therapy clinical trial for Stargardt disease. For more information on this trial, see the following link:
      http://clinicaltrials.gov/ct2/show/NCT01367444?term=stargardt&recr=Open&no_unk=Y&rank=2 However, before anyone can apply for participation in a gene therapy trial, they must first obtain a molecular (genetic) diagnosis. For information on genetic testing, please see the following web link to download a PDF document: http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      Anyone with a retinal disease should consider enrolling in “My Retina Tracker”, a free registry that helps link people with retinal disease to appropriate clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/

      Of general interest, there is a “Stargardt – Macular Degeneration” Facebook page where people can communicate with other people affected by Stargardt disease. Here is the link: https://www.facebook.com/groups/Stargardts/

      Below is a list of pharmaceutical / biotech companies that are developing therapies for Stargardt Disease:

      Acucela,( http://www.acucela.com/) is a Seattle-based biotechnology company that is developing several drugs for retinal diseases such as AMD, dry eye, diabetic retinopathy, retinopathy of prematurity and Stargardt disease. Acucela’s visual cycle modulators (VCM) reduce the activity of the rod visual system — in essence, “slowing it down” and reducing the metabolic load on the retina. Reducing the speed of the visual cycle has been shown to protect the retina from light damage and reduce the accumulation of retinal-related toxic by-products, including A2E, which is implicated in both Stargardt disease and dry AMD. The Company’s lead investigational compound (Emixustat™) is currently in Phase 3 trials for dry AMD. Once approved by the FDA, Emixustat could be prescribed for Stargardt disease.

      Ocata Therapeutics (https://www.ocata.com/), a Santa Monica-based biotechnology company, has developed an RPE cell line that is derived from embryonic stem cells (ESC). Studies have shown that the subretinal transplantation of ESC-RPE cells in a rat RP model resulted in 100% visual function rescue. Functional rescue was also achieved in the Stargardt mouse model with near-normal functional measurements recorded at more than 70 days. The RPE cell transplantation studies are now in Phase 2 human clinicals. Here is the link to the Clinical Trials.Gov recruitment web page: http://www.clinicaltrials.gov/ct2/show/NCT01469832?term=advanced+cell+technology&rank=2
      *Note: It is not known how long the transplanted RPE cells will last in a human patient with Stargardt disease. Unless gene or pharmaceutical-based augmentation treatment is coupled to the RPE transplant, toxic A2E will continue to be produced and eventually kill the RPE cells.

      Alkeus, (http://alkeus.com/) Alkeus has developed a form of vitamin A that upon light interaction, does not form toxic vitamin A metabolites and A2E. Alkeus’ lead compound, ALK-001, is an oral compound with a well-understood mechanism of action. ALK-001 was specifically designed to treat Stargardt disease by preventing the formation of these toxic vitamin A dimers in the eye. Alkeus is currently recruiting patients for a Phase 2 human clinical trial. Here is the link to the clinical trials.gov recruitment page: https://www.clinicaltrials.gov/ct2/show/NCT02402660
      Vision Medicine (Previously Visum) The Foundation Fighting Blindness is partnering with Vision Medicine to develop a small molecule therapy Stargardt disease. Vision Medicine’s novel approach proposes to develop drugs that will temporarily control levels of A2E in the eye and preserve the natural vision cycle, leading to a therapeutic treatment. Vision Medicine has discovered a unique chemical approach to sequester rather than eliminate A2E. Through this process, 25 diverse FDA approved drugs demonstrating both mechanistic and in vivo efficacy have been identified. Vision Medicine has identified a lead compound, VM 200, which is an enantiomer of an FDA approved drug that demonstrates complete retinal protection in preclinical studies. Vision Medicine plans to conduct Phase I and Phase II clinical trials in the near future. To read more about the partnership between Vision Medicine and FFB, see the following web link:
      http://www.blindness.org/foundation-news/foundation-fighting-blindness-partners-vision-medicines-develop-stargardt-disease

  3. Rohn Ward says:

    My son and daughter have stargardts. Both were diagnosed at age 9. He is now 22 and she is 18. Please share with us any information about treatment for Stargardts. It is hard seeing your children grow up with this , and I would do anything for improvement with their vision. Thank you and God bless.

    • EyeOnTheCure says:

      Hi Rohn, You and your children should be pleased to know that the Foundation Fighting Blindness is partnering with Sanofi Pharmaceuticals on a gene therapy clinical trial for Stargardt disease. For more information on this trial, see the following link:
      http://clinicaltrials.gov/ct2/show/NCT01367444?term=stargardt&recr=Open&no_unk=Y&rank=2 In order for your children to be considered for participation in the trial, they must first obtain a molecular (genetic) diagnosis. For information on genetic testing, please see the following web link to download a PDF document: http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      They should also enrol in “My Retina Tracker”, a free registry that helps link people with retinal disease to appropriate clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/

      Of general interest, there is a “Stargardt – Macular Degeneration” Facebook page where people can communicate with other people affected by Stargardt disease. Here is the link: https://www.facebook.com/groups/Stargardts/

      Finally, below is a list of pharmaceutical companies that are developing treatments for Stargardt Disease:

      Acucela,( http://www.acucela.com/) is a Seattle-based biotechnology company that is developing several drugs for retinal diseases such as AMD, dry eye, diabetic retinopathy, retinopathy of prematurity and Stargardt disease. Acucela’s visual cycle modulators (VCM) reduce the activity of the rod visual system — in essence, “slowing it down” and reducing the metabolic load on the retina. Reducing the speed of the visual cycle has been shown to protect the retina from light damage and reduce the accumulation of retinal-related toxic by-products, including A2E, which is implicated in both Stargardt disease and dry AMD. The Company’s lead investigational compound (Emixustat™) is currently in Phase 3 trials for dry AMD. Once approved by the FDA, Emixustat could be prescribed for Stargardt disease.

      Ocata Therapeutics (https://www.ocata.com/), a Santa Monica-based biotechnology company, has developed an RPE cell line that is derived from embryonic stem cells (ESC). Studies have shown that the subretinal transplantation of ESC-RPE cells in a rat RP model resulted in 100% visual function rescue. Functional rescue was also achieved in the Stargardt mouse model with near-normal functional measurements recorded at more than 70 days. The RPE cell transplantation studies are now in Phase 2 human clinicals. Here is the link to the Clinical Trials.Gov recruitment web page: http://www.clinicaltrials.gov/ct2/show/NCT01469832?term=advanced+cell+technology&rank=2
      *Note: It is not known how long the transplanted RPE cells will last in a human patient with Stargardt disease. Unless gene or pharmaceutical-based augmentation treatment is coupled to the RPE transplant, toxic A2E will continue to be produced and eventually kill the RPE cells.

      Alkeus, (http://alkeus.com/) Alkeus has developed a form of vitamin A that upon light interaction, does not form toxic vitamin A metabolites and A2E. Alkeus’ lead compound, ALK-001, is an oral compound with a well-understood mechanism of action. ALK-001 was specifically designed to treat Stargardt disease by preventing the formation of these toxic vitamin A dimers in the eye. Alkeus is currently recruiting patients for a Phase 2 human clinical trial. Here is the link to the clinical trials.gov recruitment page: https://www.clinicaltrials.gov/ct2/show/NCT02402660
      Vision Medicine (Previously Visum) The Foundation Fighting Blindness is partnering with Vision Medicine to develop a small molecule therapy Stargardt disease. Vision Medicine’s novel approach proposes to develop drugs that will temporarily control levels of A2E in the eye and preserve the natural vision cycle, leading to a therapeutic treatment. Vision Medicine has discovered a unique chemical approach to sequester rather than eliminate A2E. Through this process, 25 diverse FDA approved drugs demonstrating both mechanistic and in vivo efficacy have been identified. Vision Medicine has identified a lead compound, VM 200, which is an enantiomer of an FDA approved drug that demonstrates complete retinal protection in preclinical studies. Vision Medicine plans to conduct Phase I and Phase II clinical trials in the near future. To read more about the partnership between Vision Medicine and FFB, see the following web link:
      http://www.blindness.org/foundation-news/foundation-fighting-blindness-partners-vision-medicines-develop-stargardt-disease

      I hope you find this information helpful. Please feel free to contact me if you have any other questions or concerns.Thank you for your support that is enabling the development of new treatments for degenerative retinal disease.

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