Hope may be on the horizon for people with retinitis pigmentosa, a rare inherited eye disease with no cure. Existing treatments only help a fraction of the estimated 100,000 Americans with this condition. But advances in gene therapy may soon help restore vision to a greater number of people.
Retinitis pigmentosa causes light-detecting cells in the retina to break down over time, destroying vision. Mutations in more than 60 different genes can contribute to this condition.
If you are diagnosed with retinitis pigmentosa, its vital to undergo genetic testing to identify your underlying mutation," says Ninel Gregori, M.D., an Academy member and a professor of clinical ophthalmology at Bascom Palmer Eye Institute.
That's because people with certain genetic mutations may qualify to participate in a clinical trial of a new treatment before it's widely available.
"Knowing which gene causes your disease and asking your ophthalmologist about options to join a clinical trial may help save your vision, Gregori says.
Two treatments are currently available for patients with retinitis pigmentosa.
The gene therapy Luxturna is only for patients with a mutation in both copies of the RPE65 gene. Because of this mutation, the retina doesn't respond properly to light. A single injection of Luxturna delivers a healthy copy of the RPE65 gene directly to the retina. This restores the retina's ability to respond to light.
If patients receive the treatment early enough after diagnosis, Luxturna can improve night vision and help patients better navigate in low-light conditions.
Luxturna was developed by Spark Therapeutics and approved in 2017 by the U.S. Food and Drug Administration. It costs $850,000 for both eyes, which may be covered by insurance.
Patients with advanced retinitis pigmentosa may experience some minor improvements in vision using the Argus II bionic eye. Patients who benefit from this treatment often have very low visual acuity, and may only be able to perceive light. A surgery is required to place a small electronic device on the retina. Patients must also wear a special pair of glasses mounted with a video processing technology. The glasses send images to the device, which stimulates light-sensing cells in the retina and transmits these images to the brain.
Earlier this year, Second Sight Medical Products announced a redesigned set of glasses for use with previously implanted Argus II systems, but the glasses are not yet commercially available. Although new Argus II implants are no longer available, a different implant is in early development in Australia.
Several new treatments on the horizon aim to benefit people with retinitis pigmentosa. Many of these therapies are still being tested, and it will likely be several years before they become available to patients. But the results so far are promising. Ask your ophthalmologist whether you qualify for a clinical trial.
GenSight Therapeutics is testing a treatment that has the potential to help people with retinitis pigmentosa regardless of their genetic mutation. Treatments that use light as a tool to control cells are known as optogenetic therapies.
The optogenetic therapy from GenSight combines an eye injection with the use of high-tech goggles. The injection delivers a gene that helps retinal cells respond to light. The goggles allow these cells to send electrical signals to the brain. Together, the injection and goggles attempt to replicate the work of light-sensing cells called photoreceptors, which don't work well in people with retinitis pigmentosa.
Patients must train for several months to learn how to use the goggles. So far, five patients have had the treatment. Some have gained the ability to distinguish high-contrast objects on a table and identify crosswalk lines on the street. They are still not able to read, recognize faces or drive. Other companies pursuing optogenetic therapies include Retrosense Therapeutics (Allergan), Nanoscope Therapeutics, and Vedere Bio, Inc. (Novartis).
People with an aggressive form called X-linked retinitis pigmentosa may benefit from experimental gene therapies in development by three companies: Meira GTX, Applied Genetic Technologies and BioGen. This condition is caused by a mutation in the RPGR gene and typically affects men.
All three treatments involve a procedure called vitrectomy and an eye injection that delivers healthy copies of the RPGR gene to a part of the retina called the macula. Some patients in the clinical trials who received treatment in one eye experienced improvements in their field of vision, light sensitivity and ability to navigate in a dark room. A company called 4D Molecular Therapeutics is testing another type of gene therapy that does not require a vitrectomy.
ProQR Therapeutics is developing a gene therapy that could stop vision loss in people with retinitis pigmentosa and Usher syndrome caused by a mutation in the USH2Agene. This mutation prevents patients from making the USH2A protein, which is essential for vision. The therapy, called QR-421a, is injected into the retina and allows cells to produce a healthier version of the USH2A protein. So far, patients with both advanced and early-moderate disease experienced improvements in both visual acuity and field of vision. ProQR Therapeutics expects to test the therapy in a phase 2-3 clinical trial in the fall of 2021.
Another study by ProQR Therapeutics is testing a treatment for people who have retinitis pigmentosa due to a mutation in the RHOgene. This is also known as RP4. This mutation causes patients to produce a faulty version of the rhodopsin protein, which normally converts light into an electrical signal. The faulty protein becomes toxic to the retina over time. The new treatment, QR-1123, is delivered by an eye injection and prevents the faulty protein from being made. This allows the normal version of the protein to rule the retina again. This therapy is currently being studied in a phase 1-2 clinical trial.
Leber congenital amaurosis is a form of retinitis pigmentosa that affects infants. This disease destroys light-sensing cells in the retina. Type 10 disease is caused by a defect in the CEP290 gene that leads to progressive vision loss and, in many cases, legal blindness.
There are two promising treatments in development for this treatment.
Scientists have developed a gene-editing tool called CRISPR to try to remove the genetic defect. The treatment is delivered to the retina during an eye injection. Researchers hope the tool will help the retina produce a protein that keeps cells from dying and also revives some dead cells. This could help patients regain some vision. Allergan and Editas Medicine are leading the phase 1-2 BRILLIANCE clinical trial with 18 patients to test this treatment.
ProQR Therapeutics is testing a type of gene therapy known as RNA antisense oligonucleotide therapy. This treatment is delivered via an eye injection, and it allows production of a protein needed for vision. Patients in an ongoing phase 2-3 clinical trial are experiencing significant improvements in vision and retinal structure several months after injection.
These treatments could help patients avoid debilitating vision loss due to retinitis pigmentosa.
Gene therapy for some forms of retinitis pigmentosa offer the potential of halting the otherwise relentless progressive loss of vision and visual field. In some patients, it may actually improve vision, light sensitivity, and ability to see and navigate in the dark, says Christine Kay, MD, director of retinal genetics at Vitreoretinal Associates in Gainesville, FL.
Read the rest here:
New Treatments for Retinitis Pigmentosa - American Academy of ...
- About the Gene Therapy Review - November 8th, 2009 [November 8th, 2009]
- Contribute an Article - November 8th, 2009 [November 8th, 2009]
- EBSCO Publishing Deal - November 8th, 2009 [November 8th, 2009]
- Advertising Opportunities - November 8th, 2009 [November 8th, 2009]
- Instructions for Authors - November 8th, 2009 [November 8th, 2009]
- Isis Collaboration With Ortho-McNeil Inc for Metabolic Diseases - November 8th, 2009 [November 8th, 2009]
- Dystrophin Gene Transfer safe in Duchenne muscular dystrophy - November 8th, 2009 [November 8th, 2009]
- Researchers Identify Gene for Rare Form of Spinal Muscular Atrophy - November 8th, 2009 [November 8th, 2009]
- Fatal brain cancer tamed by New gene therapy - November 8th, 2009 [November 8th, 2009]
- Gene therapy effective in fighting obesity in mice - November 8th, 2009 [November 8th, 2009]
- Genzyme gene therapy for people with peripheral artery disease failed in a clinical trial to help them regain some mobility - November 8th, 2009 [November 8th, 2009]
- Gene Therapy May Stall Inherited Emphysema - December 31st, 2009 [December 31st, 2009]
- Gene Therapy and Stem Cells Save Limb - December 31st, 2009 [December 31st, 2009]
- TNVitamins.com – $10 Off Of $50 order - May 7th, 2011 [May 7th, 2011]
- 15% Off Any PetAlive Order - May 7th, 2011 [May 7th, 2011]
- At PetAlive – $10 off order of $50 or more - May 7th, 2011 [May 7th, 2011]
- Native Remedies coupon – 5% Off Any Order - May 7th, 2011 [May 7th, 2011]
- Native Remedies – Save $5 coupon - May 7th, 2011 [May 7th, 2011]
- Welcome to the Gene Therapy Review - May 15th, 2011 [May 15th, 2011]
- Editorial Board - May 15th, 2011 [May 15th, 2011]
- Gene Therapy Job Board - May 15th, 2011 [May 15th, 2011]
- Corporate Membership - May 22nd, 2011 [May 22nd, 2011]
- Native Remedies coupon – 25% Off Any Order - May 29th, 2011 [May 29th, 2011]
- What is Gene Therapy? - June 19th, 2011 [June 19th, 2011]
- Research and Markets: Recent Advances in Cancer Research and Therapy - Increased Research on one of the Major Causes ... - April 25th, 2012 [April 25th, 2012]
- Gene Therapy part 2 - Video - April 30th, 2012 [April 30th, 2012]
- Gene therapy reverses Parkinson's symptoms: study - Video - April 30th, 2012 [April 30th, 2012]
- CBS This Morning - Gene therapy reverses Parkinson's symptoms: study - Video - April 30th, 2012 [April 30th, 2012]
- Engineering adenoviruses for gene therapy - Video - April 30th, 2012 [April 30th, 2012]
- What is Gene Therapy (The General Explains) - Video - April 30th, 2012 [April 30th, 2012]
- What is Gene Therapy - Animation - Video - April 30th, 2012 [April 30th, 2012]
- Microbiology Gene Therapy - Video - April 30th, 2012 [April 30th, 2012]
- Gene Therapy in Detail - Video - April 30th, 2012 [April 30th, 2012]
- Breakthrough in Haemophilia treatment - Video - April 30th, 2012 [April 30th, 2012]
- Virology Seminar - Gene Therapy - April 30th, 2012 [April 30th, 2012]
- Gene Therapy Video - Video - April 30th, 2012 [April 30th, 2012]
- Study: Gene Therapy for HIV Safe, But Effectiveness Still Unclear - May 4th, 2012 [May 4th, 2012]
- Gene Therapy Safe in Decade-Long HIV Study That May Widen Use - May 4th, 2012 [May 4th, 2012]
- Gene therapy for HIV safe, but effectiveness still unclear - May 4th, 2012 [May 4th, 2012]
- A Step Forward For Gene Therapy To Treat HIV - May 4th, 2012 [May 4th, 2012]
- A Media Event on Clinical Developments in Gene and Cell Therapy - May 4th, 2012 [May 4th, 2012]
- Families of SMA Awards New Funding to Advance a CNS Delivered Gene Therapy for Spinal Muscular Atrophy - May 4th, 2012 [May 4th, 2012]
- AIDS gene therapy safe -- is it a "cure"? - May 4th, 2012 [May 4th, 2012]
- Generational Achievements in Gene and Cell Therapy Honored at ASGCT 15th Annual Meeting - May 5th, 2012 [May 5th, 2012]
- Lewis speaks on gene therapy at Lexington Community Education event - May 7th, 2012 [May 7th, 2012]
- Penn researchers report a gene-therapy success - May 10th, 2012 [May 10th, 2012]
- Gene therapy for hearing loss: Potential and limitations - May 13th, 2012 [May 13th, 2012]
- Gene therapy extends mouse lifespan by 24 pc - May 16th, 2012 [May 16th, 2012]
- Gene therapy dramatically extends mouse lifespan - May 16th, 2012 [May 16th, 2012]
- Gene therapy may extend life: Study - May 16th, 2012 [May 16th, 2012]
- First gene therapy successful against aging-associated decline: Mouse lifespan extended up to 24% with a single ... - May 16th, 2012 [May 16th, 2012]
- Gene Therapy Extends Mouse Lifespan - May 16th, 2012 [May 16th, 2012]
- Gene Therapy for Brain Disease - May 17th, 2012 [May 17th, 2012]
- Children with rare, incurable brain disease improve after gene therapy - May 17th, 2012 [May 17th, 2012]
- FIRST Anti-Aging Gene Therapy (Brainstorm Ep72) - Video - May 23rd, 2012 [May 23rd, 2012]
- Gene therapy can correct forms of severe combined immunodeficiency - May 25th, 2012 [May 25th, 2012]
- RetroSense Therapeutics Completes pre-IND Meeting for RST-001 - May 25th, 2012 [May 25th, 2012]
- Gene therapy can correct forms of severe combined immunodeficiency, study suggests - May 26th, 2012 [May 26th, 2012]
- Alliance for Cancer Gene Therapy celebrates 10 years - May 29th, 2012 [May 29th, 2012]
- Research on gene therapy by Prasad Eye - June 1st, 2012 [June 1st, 2012]
- Baxter Announces Collaboration with Chatham Therapeutics for Factor IX Hemophilia B Gene Therapy Treatment - June 5th, 2012 [June 5th, 2012]
- Transgenomic Launches Breakthrough Blood-Based Cancer Gene Testing Technology at 2012 ASCO Annual Meeting - June 5th, 2012 [June 5th, 2012]
- Baxter Inks Deal with Chatham - June 6th, 2012 [June 6th, 2012]
- PIK3CA Gene Patent for Predicting Response to Targeted Therapy Issued – Exclusively Licensed to Transgenomic - June 11th, 2012 [June 11th, 2012]
- SalutarisMD Announces Positive Case Report of a New Investigational Wet AMD Therapy at ARVO - June 15th, 2012 [June 15th, 2012]
- Research and Markets: Gene Therapy - Global Strategic Business Report - 2012 - June 15th, 2012 [June 15th, 2012]
- New York Law Firm’s MesotheliomaHelp.net Site Publishes Interview with Gene Therapy Author - June 17th, 2012 [June 17th, 2012]
- uniQure Extends Collaboration with Protein Sciences Corporation on Use of its expresSF+® Cell Line for Gene Therapy - June 19th, 2012 [June 19th, 2012]
- Anti-cocaine vaccine described in Human Gene Therapy Journal - June 19th, 2012 [June 19th, 2012]
- bluebird bio Receives U.S. and European Orphan Drug Designation for Novel Gene Therapy to Treat Adrenoleukodystrophy - June 19th, 2012 [June 19th, 2012]
- Close to a cure: Greater Hartford takes on rare Jewish genetic disease - June 19th, 2012 [June 19th, 2012]
- Gene Therapy Helps Treat Children with Rare Brain Disorder - June 20th, 2012 [June 20th, 2012]
- Gold nanoparticles capable of 'unzipping' DNA - June 21st, 2012 [June 21st, 2012]
- ‘Gene-silencing’ drug can halt and reverse deadly brain disorder - June 21st, 2012 [June 21st, 2012]
- uniQure Collaborates with UCSF on GDNF Gene Therapy in Parkinson's Disease - June 22nd, 2012 [June 22nd, 2012]
- Gene-silencing method offers possible therapy for Huntington's disease - June 22nd, 2012 [June 22nd, 2012]
- Gene mutations cause massive brain asymmetry - June 24th, 2012 [June 24th, 2012]
- Research and Markets: Translational Regenerative Medicine - Oncology, CNS and Cardiovascular-Rich Pipeline Features ... - June 25th, 2012 [June 25th, 2012]
- Stress Blocks Gene That Guards Brain Against Depression - June 26th, 2012 [June 26th, 2012]
- Targeted gene therapy enhances treatment for Pompe disease - June 26th, 2012 [June 26th, 2012]