Clinical trials: Retinal Dystrophy
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
Retinal Dystrophies, Age-related Macular Degeneration
Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
Using an adaptive optics imaging device, retinal structures are observed in healthy and diseased subjects.
- Conditions
- Retinal Dystrophies, Age-related Macular Degeneration, Arterial Hypertension, Diabetes
- Trial name
- iPhot (NCT01546181)
- Where
- France
- Volunteers
- 256 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Retinal Dystrophies, Color Vision Defects
Natural History Study of Inherited Retinal Diseases
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal…
- Conditions
- Retinal Dystrophies, Color Vision Defects, Vision Disorders, Macular Degeneration
- Trial name
- MojiLVCDT (NCT07085533)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Augelux Therapeutics
Retinal Degeneration, Retinitis Pigmentosa
Rod and Cone Mediated Function in Retinal Disease
Background: Retinal diseases cause the loss of rod and cone photoreceptors. Symptoms include vision loss and night blindness. Researchers want to learn about rod and cone function in healthy people and people with retinal…
- Conditions
- Retinal Degeneration, Retinitis Pigmentosa, Stargardt's Disease
- Trial name
- NCT02617966
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Usher Syndrome, Retinitis Pigmentosa
Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome. II.
- Trial name
- NCT00004345
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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, 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
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)
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)
Familial Mediterranean Fever (FMF), Autoinflammation
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.
- Conditions
- Familial Mediterranean Fever (FMF), Autoinflammation, Periodic Fever, Fever
- Trial name
- NCT00001373
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Retinal Dystrophies, Healthy
Optical Head-Mounted Display Technology for Low Vision Rehabilitation
The goal of this study is to examine the ability of optical head-mounted display technology to enlarge the visual field of patients with severe visual field loss due to retinal dystrophy and to improve mobility and…
- Trial name
- NCT02983305
- Testing
- Head-Mounted Display
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University of Michigan
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
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
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Retinal Dystrophies
EyeConic: Qualification for Cone-Optogenetics
This study aims to prepare for the first-in-human clinical trial of cone optogenetics vision restoration. As a first step, this worldwide multicenter ocular imaging study (EyeConic Study) is performed to identify eligible…
- Trial name
- NCT05294978
- Testing
- Optical coherence tomography (OCT)
- Where
- 9 sites in United States, China and 5 more
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Institute of Molecular and Clinical Ophthalmology Basel
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Stargardts, Retinitis Pigmentosa
High Resolution Retinal Imaging
Studying the morphology and function of the normal and diseased retina in vivo is needed for advancing the detection, diagnosis, and treatment of retinal disease.
- Conditions
- Stargardts, Retinitis Pigmentosa, Age-related Macular Degeneration, Choroideremia
- Trial name
- AOSLO (NCT01866371)
- Testing
- Retinal imaging
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Leber Congenital Amaurosis
Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.
The main objectives of this study are: 1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA taking into account ethnicity of families. 2.
- Trial name
- GENPHENACL (NCT02970266)
- Where
- France
- Volunteers
- 659 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Retinitis Pigmentosa, AMD
Rod Sensitivity in Age-related Macular Degeneration (AMD) and Retinitis Pigmentosa (RP)
A new fundus-guided microperimeter (MP-3S) has been developed by Nidek, Inc. to track the fundus of the patient and present stimuli in specific anatomically-defined locations.
- Trial name
- NCT03322930
- Testing
- Rod sensitivity
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Retina Foundation of the Southwest