Clinical trials: Hereditary Retinal Dystrophy
Retinal Degeneration, Retinitis Pigmentosa
Molecular Genetics of Retinal Degenerations
This multinational study will investigate the inheritance of genetic retinal degeneration in families of different nationalities and ethnic backgrounds in order to identify the genes that, when altered, cause retinal…
- Trial name
- NCT00231010
- Where
- 6 sites in United States, China and 2 more
- Volunteers
- 3,549 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Retinitis Pigmentosa
Retinitis Pigmentosa Clinical Measures and Repeatability Testing of Potential Outcome Measures
Background: Retinitis pigmentosa (RP) is a group of blinding eye diseases. It is caused mostly by mutations in photoreceptor-expressed genes. RP affects about 2 million people globally.
- Trial name
- NCT03845218
- Where
- United States
- Volunteers
- 49 people
- Sponsor
- National Eye Institute (NEI)
Retinal Dystrophies
SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
The goal of this observational study is to utilize a novel imaging system designed for high-resolution retinal imaging of neonates, infants and children to identify the signs of photoreceptor development and degeneration in…
- Trial name
- SS-HH-OCT (NCT06177977)
- Testing
- SS-HH-OCT
- Where
- United States
- Volunteers
- 137 people, healthy volunteers welcome
- Sponsor
- Duke University
Retinitis Pigmentosa
Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP)
The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.
- Trial name
- NCT02926092
- Testing
- Observation
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Shire
Inherited Retinal Degeneration, Retinitis Pigmentosa
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
This is an international, multicenter study with two components: Registry A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection Enrollment is open to all genes on the RD Rare…
- Trial name
- Uni-Rare (NCT05589714)
- Where
- 36 sites in United States, Australia and 12 more
- Volunteers
- 1,500 people
- Sponsor
- Jaeb Center for Health Research
Retinitis Pigmentosa, Cone Dystrophy
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
- Conditions
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes, Retina; Dystrophy
- Trial name
- NCT03990727
- Testing
- Retina Analysis-mosaic, Autofluorescence, OCT- 1 micra
- Where
- Mexico
- Volunteers
- 17,000 people, healthy volunteers welcome
- Sponsor
- MejoraVisionMD
Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20
Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene.
- Trial name
- RPE65-NHS (NCT04525261)
- Where
- 9 sites in Italy
- Volunteers
- 60 people
- Sponsor
- University of Campania Luigi Vanvitelli
Stargardt Disease Type 1 (STGD1)
An Clinical Study Evaluating the Safety, Tolerability, and efficAcy of HG005 in StaRgardT Disease
Stargardt disease type 1 (STGD1) is a rare genetic eye condition that causes progressive vision loss, often beginning in childhood or adolescence.
- Trial name
- START (NCT07063251)
- Testing
- HG005
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Retinitis Pigmentosa
A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
This is a Phase 3 study to Assess the Efficacy, Safety and Tolerability of OCU400 in patients with retinitis pigmentosa (RP) associated with RHO mutations and patients with any other RP associated mutation with a clinical…
- Trial name
- liMeliGhT (NCT06388200)
- Testing
- Sub-Retinal Administration of OCU400-301
- Where
- 17 sites in United States, Canada
- Volunteers
- 140 people
- Sponsor
- Ocugen
Usher Syndrome, Type 2A, Retinitis Pigmentosa
Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness.
- Conditions
- Usher Syndrome, Type 2A, Retinitis Pigmentosa, USH2A
- Trial name
- CRUSH (NCT04820244)
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 36 people
- Sponsor
- Radboud University Medical Center
Retinitis Pigmentosa, Stem Cell Transplant
Spheroidal Mesenchymal Stem Cells in Retinitis Pigmentosa
Purpose: This prospective clinical case series aimed to evaluate the effect of suprachoroidal implantation of mesenchymal stem cells (MSCs) in the form of spheroids as a stem cell therapy for retinitis pigmentosa (RP) patients…
- Trial name
- NCT05712148
- Testing
- Stem cell implantation
- Where
- Turkey (Türkiye)
- Volunteers
- 15 people
- Sponsor
- Acibadem University
Retinitis Pigmentosa, Eye Diseases
Natural History Study of Patients With EYS-Associated RP
This natural history study of patients with EYS mutations from Russia and former CIS (Commonwealth of Independent States) territories will accelerate the development of outcome measures for clinical trials.
- Trial name
- RUS_EYS (NCT07228793)
- Testing
- Whole exome/genome sequencing
- Where
- Russia
- Volunteers
- 45 people
- Sponsor
- Sensor Technology for Deafblind
Retinitis Pigmentosa
Natural History Study in Patients With PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa
The aim of the study is to apply a novel clinical investigation protocol in patients with Phosphodiesterase 6A (PDE6A), PDE6B and Rhodopsin (RHO)-based retinitis pigmentosa.
- Trial name
- NCT06323772
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- University Hospital Tuebingen
Hereditary Retinal Dystrophies
Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.
- Trial name
- GEPHIRD (NCT03662386)
- Testing
- OCT-A, Visual acuity (ETDRS)
- Where
- France
- Volunteers
- 103 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Retinal Disease, Bestrophinopathy
Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.
Background: Autosomal recessive bestrophinopathy (ARB) is one of 5 blinding eye diseases caused by mutations in the gene BEST1. These diseases, collectively termed "bestrophinopathies" include ARB, Best vitelliform macular…
- Conditions
- Retinal Disease, Bestrophinopathy, Best Vitelliform Macular Dystrophy, Adult Onset Vitelliform Macular Dystrophy
- Trial name
- NCT02162953
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Mayo Clinic
Retinitis Pigmentosa
Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa
Retrospective chart review study to elucidate the genotype and phenotype of patients with PRPF31-associated retinitis pigmentosa and asymptomatic carriers of the respective variant(s)
- Trial name
- NCT06368375
- Where
- Germany
- Volunteers
- 87 people
- Sponsor
- University Hospital Tuebingen
Retinitis Pigmentosa
The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa
The aim of this study is to determine whether 9-cis-beta Caroten rich D. Brdawiil extract is effective in the treatment of retinitis pigmentosa in adolescent patients.
- Trial name
- NCT02018692
- Testing
- Alga Dunaliella Bardawil powder
- Where
- Israel
- Volunteers
- 30 people
- Sponsor
- Sheba Medical Center
Leber Hereditary Optic Neuropathy
Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year
The goal of this clinical trial is to assess the efficacy and safety of GS010 gene therapy - (lenadogene nolparvovec) in subjects with LHON due to the G11778A ND4 mitochondrial mutation with a vision loss up to one year.
- Trial name
- REFLECT (NCT03293524)
- Testing
- GS010
- Where
- 13 sites in United States, Belgium and 5 more
- Volunteers
- 98 people
- Sponsor
- GenSight Biologics
Usher Syndrome, Retinitis Pigmentosa
A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
Hearing loss and loss of vision can be very harmful to the well-being and life of people who suffer from them. Usher syndrome is the name of a disease where people have both hearing loss and visual loss.
- Conditions
- Usher Syndrome, Retinitis Pigmentosa, Congenital Hearing Impairment
- Trial name
- NCT00016471
- Testing
- Audiogram, Electroretinogram
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Inherited Ophthalmic Diseases, Hypopigmentation Disorder
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a…
- Conditions
- Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy
- Trial name
- NCT06491615
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- National Eye Institute (NEI)