Clinical trials: Hereditary Retinal Dystrophy
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Macular Degeneration
Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy
This study will evaluate whether docosahexaenoic acid (DHA) dietary supplementation can improve macular function in patients with Stargardt macular dystrophy and Stargardt-like macular dystrophy.
- Trial name
- NCT00060749
- Testing
- Docosahexaenoic Acid (DHA) Dietary Supplement
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- National Eye Institute (NEI)
Retinitis Pigmentosa, Usher Syndromes
Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
This study is aimed to characterize Russian population of Retinitis Pigmentosa
- Trial name
- RU-RP (NCT03901391)
- Testing
- Whole Exome Sequencing
- Where
- 2 sites in Russia
- Volunteers
- 130 people
- Sponsor
- Sensor Technology for Deafblind
Inherited Retinal Dystrophy Due to RPE65 Mutations
Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)
Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject.
- Trial name
- NCT03602820
- Testing
- AAV2-hRPE65v2
- Volunteers
- 41 people
- Sponsor
- Genentech, Inc.
Inherited Retinal Dystrophy Associated With RPE65 Mutations
Safety and Tolerability of LX101 for Inherited Retinal Dystrophy Associated With RPE65 Mutations
The purpose of the study is to evaluate the safety, tolerability and efficacy of LX101 in subjects with biallelic RPE65 mutation-associated inherited retinal dystrophy.
- Trial name
- NCT06196827
- Testing
- LX101
- Where
- 2 sites in China
- Volunteers
- 9 people
- Sponsor
- Innostellar Biotherapeutics Co.,Ltd
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
Inherited Retinal Dystrophy Due to RPE65 Mutations, Leber Congenital Amaurosis
Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
The study is a Phase 3, open-label, randomized controlled trial of gene therapy intervention by subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl).
- Trial name
- NCT00999609
- Testing
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Where
- 2 sites in United States
- Volunteers
- 31 people
- Sponsor
- Spark Therapeutics, Inc.
Stargardt Disease, Stargardt Macular Dystrophy
A Study About the Safety of a Single ASP2020 Eye Injection and if it Helps People With Vision Loss From Stargardt-type Eye Conditions
Macular dystrophies are a group of inherited eye conditions that affect the macula. The macula is in the center of the retina, the light sensitive part at the back of the eye.
- Conditions
- Stargardt Disease, Stargardt Macular Dystrophy, Stargardt-like Macular Dystrophy
- Trial name
- DEVOTE (NCT07734064)
- Testing
- ASP2020
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Astellas Institute for Regenerative Medicine
Retinal Dystrophy, Cone-Rod, Cone Dystrophy
Study of New Mutations in Cone Disorders
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders.
- Conditions
- Retinal Dystrophy, Cone-Rod, Cone Dystrophy, Cone Rod Dystrophy, Macular Degeneration
- Trial name
- INTROCONE (NCT04658251)
- Testing
- Blood and/or skin biopsy
- Where
- France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Lille
Retinitis Pigmentosa, Leber Congenital Amaurosis
Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
This is a Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 in patients with retinitis pigmentosa associated with NR2E3 and RHO mutations and in patients with LCA due to mutation(s) in CEP290 gene (OCU400-101).
- Trial name
- NCT05203939
- Testing
- OCU400 Low Dose, OCU400 Med Dose, OCU400 High Dose
- Where
- 7 sites in United States
- Volunteers
- 22 people
- Sponsor
- Ocugen
Stargardt Disease
Study of ALK-001 on the Progression of Stargardt Disease
This study evaluates the efficacy and safety of investigational study drug ALK-001 in participants 8 to 45 years of age, inclusive, with symptoms and signs of autosomal recessive Stargardt disease (STGD)
- Trial name
- NORTHSTAR (NCT07419334)
- Testing
- ALK-001
- Where
- 14 sites in United States
- Volunteers
- 230 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.
Retinitis Pigmentosa, Choroideremia
Longitudinal Study of a Bionic Eye
This is a longitudinal observational study with participants who have been implanted with the suprachoroidal retinal prosthesis.
- Trial name
- NCT05158049
- Where
- Australia
- Volunteers
- 7 people
- Sponsor
- Center for Eye Research Australia
Retinitis Pigmentosa
Effects of Lutein in Retinitis Pigmentosa
Phase I/II double-masked, randomized, placebo-controlled, cross-over trial to determine effects of lutein on vision in retinitis pigmentosa, including safety and effective dosage assessment
- Trial name
- NCT00029289
- Testing
- Lutein (10 or 30 mg/day) capsules
- Where
- United States
- Sponsor
- National Center for Complementary and Integrative Health (NCCIH)
Retinitis Pigmentosa, Cystoid Macular Edema
Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
Purpose: Cystoid macular edema (CME) in retinitis pigmentosa (RP) has been managed in several ways with little success. The aim of our study was to report the use of intravitreal dexamethasone implant in a large series of…
- Trial name
- NCT02804360
- Testing
- dexamethasone injection
- Volunteers
- 50 people
- Sponsor
- Rafic Hariri University Hospital
Inherited Retinal Dystrophy Associated With RPE65 Mutations
Efficacy and Safety of LX101 for Inherited Retinal Dystrophy Associated With RPE65 Mutations
The purpose of the study is to evaluate the efficacy and safety of LX101 in subjects with biallelic RPE65 mutation-associated inherited retinal dystrophy.
- Trial name
- NCT07054632
- Testing
- LX101
- Where
- 4 sites in China
- Volunteers
- 30 people
- Sponsor
- Innostellar Biotherapeutics Co.,Ltd
Prematurity
Supply With Micronutrients (Purine and Pyrimidine) in Infants: a Prospective and Observational Study
Concentrations of micronutrients (especially purine and pyrimidine) in cord blood, blood of mothers and infants and human milk is studied
- Trial name
- NCT03532633
- Testing
- cord blood, blood sample infant, blood sample mother
- Where
- Germany
- Volunteers
- 150 people
- Sponsor
- University Hospital Tuebingen
Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and…
- Conditions
- Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss
- Trial name
- NCT01773278
- Testing
- Antioxidants, Cholesterol
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Colorado, Denver
Retinitis Pigmentosa
Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa
Retinitis Pigmentosa (RP) patients are interested in trying alternative therapies to attempt to slow, halt or reverse the retinal disease process, and claim success with some approaches such as acupuncture, but this potential…
- Trial name
- NCT01604356
- Testing
- Electro-acupuncture
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Johns Hopkins University
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
Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing.
The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics.
- Trial name
- RP-SEQ-HD (NCT02860520)
- Where
- 4 sites in France
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France