Ongoing Clinical Trials for Retinitis Pigmentosa
Retinitis pigmentosa is a genetic eye disease that causes progressive vision loss. Currently, there are 10 clinical trials testing various gene therapies and treatments across multiple countries in Europe. These trials focus on different genetic mutations that cause the disease and are evaluating innovative approaches including gene therapy injections, cell-based therapies, and antioxidant medications. Trials are being conducted in France, Germany, Belgium, Netherlands, Italy, Spain, Denmark, Sweden, and Austria.
Clinical trial locations
- Austria
- Belgium
- Denmark
- France
- Study of GS030 gene therapy safety and tolerability in patients with Retinitis Pigmentosa
- Study on the Safety and Effects of ISTEM-01 and Mycophenolate Mofetil for Patients with Retinitis Pigmentosa Due to a Genetic Mutation
- Long-term Safety and Efficacy Study of Gene Therapy for Choroideremia and X-Linked Retinitis Pigmentosa Using AAV2-REP1 and AAV8-RPGR in Previously Treated Patients
- Study of ultevursen treatment in patients with retinitis pigmentosa caused by mutations in USH2A gene exon 13
- Study on the Effectiveness and Safety of Ultevursen for Patients with Retinitis Pigmentosa Due to USH2A Gene Mutations
- Long-Term Safety and Efficacy Study of Botaretigene Sparoparvovec for Patients with X-Linked Retinitis Pigmentosa
- Study of HORA-PDE6B’s Safety in Retinitis Pigmentosa Patients with PDE6B Gene Mutations
- Germany
- Long-term Safety and Efficacy Study of Gene Therapy for Choroideremia and X-Linked Retinitis Pigmentosa Using AAV2-REP1 and AAV8-RPGR in Previously Treated Patients
- Study of ultevursen treatment in patients with retinitis pigmentosa caused by mutations in USH2A gene exon 13
- Study on the Effectiveness and Safety of Ultevursen for Patients with Retinitis Pigmentosa Due to USH2A Gene Mutations
- Study on the Effects of Oral N-Acetylcysteine for Patients with Retinitis Pigmentosa
- Italy
- Study of ultevursen treatment in patients with retinitis pigmentosa caused by mutations in USH2A gene exon 13
- Study on the Effectiveness and Safety of Ultevursen for Patients with Retinitis Pigmentosa Due to USH2A Gene Mutations
- Long-Term Safety and Efficacy Study of Botaretigene Sparoparvovec for Patients with X-Linked Retinitis Pigmentosa
- Netherlands
- Study of ultevursen treatment in patients with retinitis pigmentosa caused by mutations in USH2A gene exon 13
- Study on the Effectiveness and Safety of Ultevursen for Patients with Retinitis Pigmentosa Due to USH2A Gene Mutations
- Long-Term Safety and Efficacy Study of Botaretigene Sparoparvovec for Patients with X-Linked Retinitis Pigmentosa
- Study on the Effects of Oral N-Acetylcysteine for Patients with Retinitis Pigmentosa
- Spain
- Sweden
Study of GS030 gene therapy safety and tolerability in patients with Retinitis Pigmentosa
This French clinical trial is testing an innovative gene therapy approach for people who have experienced significant vision loss from retinitis pigmentosa. The treatment involves two components: GS030-DP, which is given as a single injection into the eye, and GS030-MD, a special light-stimulating device worn by patients after the injection.
Who can join: Adults between 18 and 75 years old with confirmed non-syndromic retinitis pigmentosa who have severely limited vision in at least one eye. Participants must be able to wear the light-stimulating device and have relatively preserved inner retinal layers on eye scans. Those with HIV infection, active eye diseases, pregnancy, or who have participated in previous gene therapy trials are not eligible.
Main focus: The trial aims to determine whether different doses of GS030-DP are safe and well-tolerated. Researchers will monitor patients for one year after treatment, performing various tests to assess changes in vision and eye structure. The study also evaluates how well patients tolerate wearing and using the light-stimulating device as part of the treatment.
Investigational treatment: GS030-DP uses an adeno-associated viral vector to deliver genetic material intended to restore light sensitivity in damaged retinal cells. Following the injection, patients use the GS030-MD device, which provides light stimulation designed to activate the treated cells.
Study on the Safety and Effects of ISTEM-01 and Mycophenolate Mofetil for Patients with Retinitis Pigmentosa Due to a Genetic Mutation
This French study evaluates ISTEM-01, a medicated patch containing retinal pigment epithelium cells derived from human embryonic stem cells. The patch is surgically implanted under the retina of one eye in patients who have specific genetic mutations causing their condition.
Who can join: Adults between 18 and 65 years old with genetically confirmed retinitis pigmentosa caused by mutations in specific genes such as RPE65, LRAT, or MerTK. Participants must meet specific vision requirements and test negative for COVID-19 during pandemic periods. Pregnant or breastfeeding women and those unable to follow study procedures cannot participate.
Main focus: The primary objective is to assess the safety and tolerability of the ISTEM-01 patch over 56 weeks, with continued long-term monitoring beyond that period. The study tracks changes in visual acuity, retinal structure, and the function of retinal pigment epithelium cells using various imaging techniques and functional tests.
Investigational treatment: ISTEM-01 involves implanting laboratory-grown retinal pigment epithelium cells to potentially replace damaged cells in the eye. Participants also receive mycophenolate mofetil, an immunosuppressive medication taken orally to prevent rejection of the implanted cells.
Long-term Safety and Efficacy Study of Gene Therapy for Choroideremia and X-Linked Retinitis Pigmentosa Using AAV2-REP1 and AAV8-RPGR in Previously Treated Patients
This follow-up study, conducted in France and Germany, monitors male patients who previously received gene therapy for either choroideremia or X-linked retinitis pigmentosa. The trial tracks the long-term effects of these treatments to understand their sustained impact on vision.
Who can join: Male participants who completed previous studies involving either AAV2-REP1 treatment for choroideremia or AAV8-RPGR treatment for X-linked retinitis pigmentosa. Participants must be willing to provide informed consent and attend regular follow-up visits. Females and those from vulnerable populations are not eligible for this specific study.
Main focus: The study aims to evaluate the long-term safety and effectiveness of the previously administered gene therapies. Regular assessments include visual acuity measurements, fundus photography, optical coherence tomography, and microperimetry to track changes in vision and retinal health over time.
Investigational treatment: No new medication is administered in this follow-up study. It monitors the lasting effects of two gene therapies: AAV2-REP1, which delivers the gene for Rab Escort Protein-1 for choroideremia patients, and AAV8-RPGR, which delivers the RPGR gene for X-linked retinitis pigmentosa patients.
Study of ultevursen treatment in patients with retinitis pigmentosa caused by mutations in USH2A gene exon 13
This multinational trial spans the Netherlands, Belgium, Italy, Germany, Denmark, and France, testing ultevursen for patients whose condition is caused by specific mutations in exon 13 of the USH2A gene. The treatment involves regular injections into the eye over a two-year period.
Who can join: Adults 18 years or older, or adolescents 12-17 years with parental consent, who have confirmed genetic mutations in the USH2A gene. Both eyes must have similar vision levels with a minimum visual acuity of 55 letters on eye charts. Participants must have clear eye media and be able to undergo eye imaging. Women who can become pregnant and fertile men must use effective birth control during the study.
Main focus: The study evaluates how effectively ultevursen can slow or stop the progression of vision loss over 24 months. Researchers monitor changes in retinal structure using advanced imaging, assess visual field sensitivity, and test vision under various lighting conditions. The trial uses a double-masked design, meaning neither participants nor doctors know who receives the active treatment versus a sham procedure.
Investigational treatment: Ultevursen is an antisense oligonucleotide medication designed to target specific genetic mutations in exon 13 of the USH2A gene. It works at the molecular level by modifying RNA processing to potentially restore proper protein function in retinal cells.
Study on the Effectiveness and Safety of Ultevursen for Patients with Retinitis Pigmentosa Due to USH2A Gene Mutations
This study, conducted in the Netherlands, Germany, Italy, and France, also tests ultevursen but includes a slightly broader patient population, including some younger participants aged 8-17 years. Like the previous ultevursen trial, it evaluates the medication’s impact on vision over two years.
Who can join: Adults 18 years or older, or minors aged 8 to under 18 years with parental consent, who have retinitis pigmentosa with confirmed USH2A gene mutations. Participants must have measurable retinal features visible on eye scans and meet specific vision requirements. Both eyes should have similar vision levels. Pregnant or breastfeeding women cannot participate, and women of childbearing potential must use effective birth control.
Main focus: The trial aims to determine ultevursen’s effectiveness in preserving or improving vision after 24 months of treatment. Regular monitoring includes measurements of retinal sensitivity, visual acuity testing, and assessment of vision field loss. Safety evaluations track both eye-related and general adverse events, as well as the presence of anti-drug antibodies.
Investigational treatment: Ultevursen is administered through intravitreal injections directly into the eye. As a gene therapy, it targets genetic defects in the USH2A gene at the molecular level, attempting to correct or modify the genetic mutations responsible for the disease.
Study on the Safety and Effectiveness of AGTC-501 for Men with X-linked Retinitis Pigmentosa
This Spanish study tests AGTC-501, a gene therapy specifically for males with X-linked retinitis pigmentosa caused by RPGR gene mutations. The treatment is given as a single injection directly into the retina and is monitored for several years afterward.
Who can join: Males between 12 and 50 years old with clinically diagnosed X-linked retinitis pigmentosa and confirmed genetic changes in the RPGR gene. Participants must have detectable retinal structures on eye scans, specific levels of vision in both normal and low-light conditions, and be in good general health to safely undergo eye surgery. They must also be able to perform all vision tests and attend all study visits.
Main focus: The study evaluates whether AGTC-501 can improve visual function and is safe to use. Researchers monitor changes in retinal sensitivity using specialized tests like MAIA microperimetry and track retinal structure with optical coherence tomography. Follow-up assessments occur at regular intervals including months 12, 18, and 24, with the study expected to conclude in September 2030.
Investigational treatment: AGTC-501 uses an adeno-associated virus vector to deliver a functional copy of the human RPGR gene directly to retinal cells through a subretinal injection. After the injection, patients may receive oral medications like prednisolone or prednisone to manage inflammation.
Long-Term Safety and Efficacy Study of Botaretigene Sparoparvovec for Patients with X-Linked Retinitis Pigmentosa
This long-term follow-up study operates across Belgium, Spain, the Netherlands, Italy, Denmark, and France. It monitors patients who previously received botaretigene sparoparvovec in an earlier study to assess the treatment’s sustained effects over many years.
Who can join: Both males and females who completed the previous study MGT-RPGR-021 can participate. Participants must understand the study’s purpose and procedures and be willing to continue with long-term monitoring. The study includes individuals from vulnerable populations.
Main focus: The primary goal is to evaluate the long-term safety and effectiveness of botaretigene sparoparvovec through 2029. Regular follow-up assessments include vision-guided mobility tests, laboratory assessments, and monitoring for adverse effects. The study tracks how well improvements in vision are maintained over time.
Investigational treatment: Botaretigene sparoparvovec, previously known as AAV5-hRKp.RPGR, is a gene therapy administered through subretinal injection. It delivers a healthy copy of the RPGR gene to retinal cells using a viral vector. Various supportive medications may be used during the study, including antibiotics for infection prevention and corticosteroids to reduce inflammation.
Study of HORA-PDE6B’s Safety in Retinitis Pigmentosa Patients with PDE6B Gene Mutations
This French study focuses specifically on patients whose retinitis pigmentosa is caused by mutations in the PDE6B gene. It tests HORA-PDE6B, a gene therapy administered through subretinal injection to correct the genetic defect affecting the eye.
Who can join: Adults 18 years and older with retinitis pigmentosa confirmed through medical history, typical eye examination findings, and reduced responses on electroretinogram tests. Participants must have genetically confirmed PDE6B mutations and still retain some central vision that allows independent movement. Women who can become pregnant must use effective birth control, and males must also agree to contraception for six months after treatment. Patients must be covered by health insurance.
Main focus: The study primarily assesses the safety of HORA-PDE6B therapy, carefully monitoring for any adverse effects following treatment. Regular eye examinations track changes in vision and eye health, including measurements of visual acuity, visual field, and retinal function using various specialized tests.
Investigational treatment: HORA-PDE6B is administered as a single subretinal injection containing an adenovirus-associated viral vector carrying the human PDE6B gene. Before the procedure, patients receive eye drops to prepare the eye, and after treatment, anti-inflammatory medications are given to reduce swelling.
Study on the Effects of Oral N-Acetylcysteine for Patients with Retinitis Pigmentosa
This study, conducted in the Netherlands, Germany, and Austria, takes a different approach by testing an oral medication rather than an injection. N-Acetylcysteine is an antioxidant medication taken as effervescent tablets dissolved in water twice daily for 45 months.
Who can join: Adults between 18 and 65 years old who can provide informed consent and are willing to follow the study protocol and attend all visits. Participants must agree not to take other supplements except vitamin A. Those who can become pregnant must use contraception during the study.
Main focus: The trial evaluates whether N-Acetylcysteine can help maintain visual function and reduce visual disability over the long term. Using a randomized, double-masked design, some participants receive the active medication while others receive a placebo. Regular assessments measure macular sensitivity, visual acuity, and retinal structure to determine if the treatment slows vision loss progression.
Investigational treatment: N-Acetylcysteine is administered orally at a dose of 1800 mg twice daily. As an antioxidant, it works by protecting retinal cells from damage caused by oxidative stress, which is thought to contribute to the progression of vision loss in retinitis pigmentosa.
Study on the Safety and Effects of CPK850 Gene Therapy for Patients with Retinitis Pigmentosa Due to RLBP1 Gene Mutations
This Swedish study tests CPK850, a gene therapy for patients whose condition is caused by mutations in the RLBP1 gene. The treatment is administered as a single dose injected under the retina, with participants monitored for up to one year afterward.
Who can join: Adults between 18 and 70 years old with retinitis pigmentosa caused by confirmed RLBP1 gene mutations. Participants must have clear eye media allowing for clear photographs and procedures, weigh at least 40 kg with a BMI under 40, and meet specific visual acuity requirements. The retina must show visible layers of photoreceptor and retinal pigment epithelium on standard eye scans. Women must have negative pregnancy tests, and participants must be able to follow all study procedures.
Main focus: The study explores both the safety and potential benefits of CPK850 gene therapy. Researchers monitor whether the treatment can help the eye recover its ability to adapt to darkness, which is often impaired in this condition. Regular assessments include measurements of visual acuity, contrast sensitivity, and retinal structure using various imaging techniques.
Investigational treatment: CPK850 is administered through a single subretinal injection performed under surgical conditions. It uses an adeno-associated viral vector to deliver a healthy copy of the RLBP1 gene directly to the affected retinal cells, aiming to restore normal protein function necessary for vision.
Summary
These ten clinical trials represent a diverse range of innovative approaches to treating retinitis pigmentosa, reflecting the genetic complexity of this disease. The majority of trials focus on gene therapy approaches, with treatments targeting specific genetic mutations including USH2A, RPGR, RLBP1, and PDE6B genes. This precision medicine approach recognizes that effective treatment must address the specific genetic cause of each patient’s condition.
France leads in trial availability with seven studies, followed by Germany with four, and Italy and the Netherlands each hosting four trials. Several countries including Belgium, Denmark, and Spain participate in multiple studies, demonstrating strong European collaboration in research for this rare disease. Only one trial is testing an oral medication, while all others involve direct eye injections or implants, highlighting the challenge of delivering treatments to the retina.
Notably, two separate trials are testing ultevursen for USH2A mutations, and three studies focus specifically on X-linked retinitis pigmentosa caused by RPGR mutations. This concentration of research on particular genetic forms may reflect the prevalence of these mutations or promising early research results. Most trials have strict age requirements, typically ranging from adolescents to adults under 70 years, and several require participants to maintain effective birth control due to the investigational nature of gene therapies.
The duration of these studies varies considerably, from one-year monitoring periods to long-term follow-up extending beyond five years, reflecting the need to understand both immediate safety and long-term effectiveness of these treatments. Several trials are follow-up studies monitoring patients who received treatments in earlier research, emphasizing the importance of understanding how these therapies perform over extended periods.
