Clinical trials: Hereditary Retinal Dystrophy
Primary Intestinal Hypocholesterolemia, Abetalipoproteinemia
CArotenoid in hypoChOlesterolemia
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of plasmatic lipids (mainly triglycerides, total cholesterol (TC), LDL-cholesterol (LDL-C), and apolipoprotein B…
- Conditions
- Primary Intestinal Hypocholesterolemia, Abetalipoproteinemia, Chylomicron Retention Disease
- Trial name
- CaCo (NCT05208879)
- Testing
- Characterization of carotenoid status and plasma levels of oxidative stress markers in patients (case group only), Characterization, evaluation and comparison of macular pigment density
- Where
- 3 sites in France
- Volunteers
- 10 people
- Sponsor
- Hospices Civils de Lyon
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
Healthy, Muscular Dystrophy
Studies of Patients With Skin Disease, Patients With Neurological Degenerations, and Normal Volunteers
It is proposed that patients with skin disease due to presumed immunologic, genetic or viral-induced abnormalities, patients with neurological degenerations, and normal controls be evaluated with various in vitro studies of…
- Conditions
- Healthy, Muscular Dystrophy, Retinal Degeneration, Skin Diseases
- Trial name
- NCT00001164
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cone-Rod Degeneration, Rod-Cone Degeneration
Virtual Reality Mobility Assessment of Functional Vision in Retinal Disease
Background: The retina is a thin layer of tissue at the back of the eye. Retinal disease usually reduces a person s mobility because it affects how he or she moves through familiar and unfamiliar environments.
- Trial name
- NCT04289571
- Testing
- VR Mobility Tool
- Where
- 2 sites in United States, Australia
- Volunteers
- 165 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Retinitis Pigmentosa
Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
This study will evaluate the safety of a ciliary neurotrophic factor (CNTF) implant placed in the eye to allow the release of CNTF directly on the retina.
- Trial name
- NCT00063765
- Testing
- Ciliary Neurotrophic Factor Implant NT-501
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Eye Institute (NEI)
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
Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases
Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1:3500. It is one of the most genetically heterogenous conditions in humans, with over 100 causative genes and…
- Trial name
- NCT02309866
- Testing
- Genetic testing
- Volunteers
- 100 people
- Sponsor
- Hillel Yaffe Medical Center
RP2-associated Retinitis Pigmentosa, X-Linked Retinitis Pigmentosa (XLRP)
InsightRP2 Registry
InsightRP2 is a secure online patient registry specific to RP2-associated retinitis pigmentosa (RP). It is our goal to further the scientific understanding of this rare disease and to support research in to a gene therapy for…
- Conditions
- RP2-associated Retinitis Pigmentosa, X-Linked Retinitis Pigmentosa (XLRP), Retinitis Pigmentosa 2
- Trial name
- NCT06982417
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- University of Göttingen
Usher Syndrome
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500.
- Trial name
- MYO7A (NCT07278843)
- Testing
- Vision tests, Retinal imaging, Questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Abetalipoproteinemia
Vitamin Replacement in Abetalipoproteinemia
This study will determine whether short term intravenous infusion of vitamins A and E in patients with abetalipoproteinemia can reverse disease symptoms in these patients.
- Trial name
- NCT00004574
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Stargardt Disease, Stargardt Macular Degeneration
Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease
The purpose of this study is to determine the long term safety and tolerability of ALK-001 (C20-D3-retinyl acetate), and to explore the effects of ALK-001 on the progression of Stargardt disease in patients between the ages of 8…
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
- Trial name
- TEASE (NCT02402660)
- Testing
- ALK-001
- Where
- 14 sites in United States
- Volunteers
- 160 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.
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
Cataract, Glaucoma
Potential Research Participants for Future Studies of Inherited Eye Diseases
This study will evaluate potential candidates for future clinical research studies related to diagnosed or undiagnosed genetic eye disorders or diseases.
- Conditions
- Cataract, Glaucoma, Retinitis Pigmentosa, Macular Degeneration
- Trial name
- NCT00559234
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Eye Institute (NEI)
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
Retinal Disease, AMD
Cell Collection to Study Eye Diseases
Background: Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye.
- Conditions
- Retinal Disease, AMD, Retinal Degeneration, Retinitis Pigmentosa
- Trial name
- NCT01432847
- Where
- United States
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Bardet-Biedl Syndrome
Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS; OMIN #209900) is a rare genetic disorder characterized by six core features: rod-cone dystrophy (retinitis pigmentosa), polydactyly, obesity, genital anomalies, renal anomalies, and learning…
- Trial name
- NCT05400278
- Testing
- No intervention
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Stargardt Disease, Stargardt Macular Degeneration
Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE)
The purpose of this open-label, multicenter study is to determine the long-term safety, pharmacokinetics and effects of ALK-001 (C20-D3-retinyl acetate) on the progression of Stargardt disease.
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
- Trial name
- NCT04239625
- Testing
- ALK-001
- Where
- 8 sites in United States
- Volunteers
- 200 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.
Alström Syndrome (ALMS)
Clinical Study of a Single Ciliopathy: Alström Syndrome
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
- Trial name
- NCT02890550
- Where
- 14 sites in France
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Stargardt Disease, Stargardt Disease 1
Prescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials (STARPATH)
This is an observational prescreening study. Individuals who are eligible for prescreening will undergo testing procedures that may be used to determine eligibility in ACDN-01 clinical trials.
- Conditions
- Stargardt Disease, Stargardt Disease 1, Cone Rod Dystrophy, Juvenile Macular Degeneration
- Trial name
- NCT06445322
- Testing
- Prescreening Assessments
- Where
- 9 sites in United States
- Volunteers
- 50 people
- Sponsor
- Ascidian Therapeutics, Inc
Retinitis Pigmentosa (RP), Age Related Macular Degeneration
Evaluating a New Peptide Therapy for Retinal Diseases: AMD, Diabetic Retinopathy, and Dystrophies
Summary of the Study This clinical trial evaluates a novel peptide-based therapy for treating retinal dystrophies, age-related macular degeneration (AMD), and diabetic retinopathy (DR).
- Conditions
- Retinitis Pigmentosa (RP), Age Related Macular Degeneration, Diabetic Retinopathy
- Trial name
- Retino (NCT06787482)
- Testing
- ACE Retino
- Where
- 2 sites in Egypt
- Volunteers
- 100 people
- Sponsor
- Ace Cells Lab Limited