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Showing 1–24 of 27 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Deaf Blind Clear all
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542
View directory record Official record
Conditions
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions
Family Centered pediatric palliative care for family caregivers of children with rare diseases.
Behavioral
Lead sponsor
Children's National Research Institute
Other
Eligibility
12 Months to 99 Years
Enrollment
480 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 27, 2026 · Synced Jul 21, 2026, 11:23 AM EDT
Active, not recruiting Phase 3 Interventional

Oral N-acetylcysteine for Retinitis Pigmentosa

NCT05537220
View directory record Official record
Conditions
Retinitis Pigmentosa
Interventions
N-acetylcysteine, Placebo
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 65 Years
Enrollment
485 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2030
U.S. locations
24
States / cities
Davis, California • Los Angeles, California • San Francisco, California + 21 more
Source: ClinicalTrials.gov public record
Updated Jun 14, 2026 · Synced Jul 21, 2026, 11:23 AM EDT
Active, not recruiting Phase 2 Interventional

AMX0035 in Adult Patients With Wolfram Syndrome

NCT05676034
View directory record Official record
Conditions
Wolfram Syndrome
Interventions
AMX0035
Drug
Lead sponsor
Amylyx Pharmaceuticals Inc.
Industry
Eligibility
17 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Apr 13, 2026 · Synced Jul 21, 2026, 11:23 AM EDT
Recruiting No phase listed Observational

Adaptive Optics Imaging of Outer Retinal Diseases

NCT05355415
View directory record Official record
Conditions
Retinal Degeneration, Age-Related Macular Degeneration, Retinitis Pigmentosa, Hydroxychloroquine Retinopathy, Usher Syndromes, Late-Onset Retinal Degeneration, Cone Dystrophy, Cone Rod Dystrophy, Rod Cone Dystrophy, Rod Dystrophy
Interventions
Adaptive optics imaging
Device
Lead sponsor
Food and Drug Administration (FDA)
Federal
Eligibility
21 Years and older
Enrollment
100 participants
Timeline
2021 – 2028
U.S. locations
2
States / cities
Bethesda, Maryland • Silver Spring, Maryland
Source: ClinicalTrials.gov public record
Updated May 7, 2026 · Synced Jul 21, 2026, 11:23 AM EDT
Completed No phase listed Observational

A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

NCT00016471
View directory record Official record
Conditions
Usher Syndrome, Retinitis Pigmentosa, Congenital Hearing Impairment
Interventions
Audiogram, Electroretinogram
Procedure
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2002
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 21, 2026, 11:23 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)

NCT05176717
View directory record Official record
Conditions
Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Vision Disorders
Interventions
QR-421a, Sham-procedure
Drug · Other
Lead sponsor
Laboratoires Thea
Industry
Eligibility
12 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
2
States / cities
Dallas, Texas • Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Aug 6, 2024 · Synced Jul 21, 2026, 11:23 AM EDT
Recruiting Not applicable Interventional

Stem Cell Ophthalmology Treatment Study II

NCT03011541
View directory record Official record
Conditions
Retinal Disease, Age-Related Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease, Optic Neuropathy, Nonarteritic Ischemic Optic Neuropathy, Optic Atrophy, Optic Nerve Disease, Glaucoma, Leber Hereditary Optic Neuropathy, Blindness, Vision Loss Night, Vision Loss Partial, Vision, Low, Retinopathy, Maculopathy, Macular Degeneration, Retina Atrophy
Interventions
Arm 1
Procedure
Lead sponsor
MD Stem Cells
Industry
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2028
U.S. locations
2
States / cities
Westport, Connecticut • Coral Springs, Florida
Source: ClinicalTrials.gov public record
Updated Jun 28, 2026 · Synced Jul 21, 2026, 11:23 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Inherited Retinal Degenerative Disease Registry

NCT02435940
View directory record Official record
Conditions
Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome, Bassen-Kornzweig Syndrome, Batten Disease, Best Disease, Choroidal Dystrophy, Choroideremia, Cone Dystrophy, Cone-Rod Dystrophy, Congenital Stationary Night Blindness, Enhanced S-Cone Syndrome, Fundus Albipunctatus, Goldmann-Favre Syndrome, Gyrate Atrophy, Juvenile Macular Degeneration, Kearns-Sayre Syndrome, Leber Congenital Amaurosis, Refsum Syndrome, Retinitis Pigmentosa, Retinitis Punctata Albescens, Retinoschisis, Rod-Cone Dystrophy, Rod Dystrophy, Rod Monochromacy, Stargardt Disease, Usher Syndrome
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
Not listed
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2037
U.S. locations
1
States / cities
Columbia, Maryland
Source: ClinicalTrials.gov public record
Updated May 18, 2026 · Synced Jul 21, 2026, 11:23 AM EDT
Completed No phase listed Observational

Study of Usher Syndromes, Type 1 and Type 2

NCT00001347
View directory record Official record
Conditions
Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1993 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jul 21, 2026, 11:23 AM EDT
Completed Not applicable Interventional

Validating a Self-fitting Hearing Aid

NCT05246904
View directory record Official record
Conditions
Hearing and Vision Loss
Interventions
Fitting algorithm
Other
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 80 Years
Enrollment
41 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 24, 2023 · Synced Jul 21, 2026, 11:23 AM EDT
Completed Phase 1Phase 2 Interventional

Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene

NCT03780257
View directory record Official record
Conditions
Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Vision Disorders
Interventions
QR-421a, Sham-procedure (dose cohort 1&2 only)
Drug · Other
Lead sponsor
ProQR Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
4
States / cities
Boston, Massachusetts • Ann Arbor, Michigan • Portland, Oregon + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 19, 2022 · Synced Jul 21, 2026, 11:23 AM EDT
Terminated Phase 1Phase 2 Interventional Results available

Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B

NCT01505062
View directory record Official record
Conditions
Usher Syndrome, Retinitis Pigmentosa
Interventions
SAR421869
Drug
Lead sponsor
Sanofi
Industry
Eligibility
6 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 27, 2022 · Synced Jul 21, 2026, 11:23 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)

NCT06789445
View directory record Official record
Conditions
Primary Photoreceptor Disease, Retinitis Pigmentosa (RP), Usher Syndrome, Inherited Retinal Disease (IRD), Rod-Cone Dystrophy, Rod-Cone Disease, Retinal Degeneration, Cone-Rod Disease (C-RD), Cone-Rod Dystrophy
Interventions
OpCT-001
Biological
Lead sponsor
BlueRock Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
5
States / cities
Los Angeles, California • Miami, Florida • Philadelphia, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 5, 2026 · Synced Jul 21, 2026, 11:23 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)

NCT05158296
View directory record Official record
Conditions
Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Vision Disorders
Interventions
Ultevursen, Sham-procedure
Drug · Other
Lead sponsor
Laboratoires Thea
Industry
Eligibility
12 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
10
States / cities
San Diego, California • San Francisco, California • Miami, Florida + 7 more
Source: ClinicalTrials.gov public record
Updated Jul 11, 2024 · Synced Jul 21, 2026, 11:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Molecular Genetics of Retinal Degenerations

NCT00231010
View directory record Official record
Conditions
Retinal Degeneration, Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
4 Years and older
Enrollment
3,549 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2016
U.S. locations
3
States / cities
Bethesda, Maryland • Boston, Massachusetts • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 4, 2018 · Synced Jul 21, 2026, 11:23 AM EDT
Terminated Phase 2 Interventional Results available

An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa

NCT05085964
View directory record Official record
Conditions
Retinitis Pigmentosa, Usher Syndrome Type 2
Interventions
RNA antisense oligonucleotide for intravitreal injection
Drug
Lead sponsor
Laboratoires Thea
Industry
Eligibility
12 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
4
States / cities
Boston, Massachusetts • Ann Arbor, Michigan • Portland, Oregon + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2024 · Synced Jul 21, 2026, 11:23 AM EDT
Completed No phase listed Observational

I-Tracking Neurodegeneration in Early Wolfram Syndrome

NCT03951298
View directory record Official record
Conditions
Wolfram Syndrome
Interventions
Not listed
Lead sponsor
Washington University School of Medicine
Other
Eligibility
1 Day and older
Enrollment
127 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Aug 5, 2024 · Synced Jul 21, 2026, 11:23 AM EDT
Active, not recruiting Phase 2 Interventional

Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene

NCT06627179
View directory record Official record
Conditions
Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease, Eye Diseases, Hereditary, Eye Disorders Congenital, Vision Disorders
Interventions
Intravitreal Injection of Ultevursen, No intervention, will not receive any active study intervention
Drug · Other
Lead sponsor
Laboratoires Thea
Industry
Eligibility
8 Years and older
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
10
States / cities
San Francisco, California • Miami, Florida • Atlanta, Georgia + 7 more
Source: ClinicalTrials.gov public record
Updated Jul 8, 2026 · Synced Jul 21, 2026, 11:23 AM EDT
Completed No phase listed Observational

Natural History and Genetic Studies of Usher Syndrome

NCT00106743
View directory record Official record
Conditions
Retinitis Pigmentosa Syndromic, Congenital Deafness, Usher Syndrome, Retinitis Pigmentosa and Deafness, Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
2 Years and older
Enrollment
249 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2019
U.S. locations
2
States / cities
Bethesda, Maryland • New York, New York
Source: ClinicalTrials.gov public record
Updated Dec 11, 2019 · Synced Jul 21, 2026, 11:23 AM EDT
Completed Early Phase 1 Interventional Results available

Workshops for Veterans With Vision and Hearing Loss

NCT01109576
View directory record Official record
Conditions
Deafness, Blindness
Interventions
DSL Workshop
Behavioral
Lead sponsor
US Department of Veterans Affairs
Federal
Eligibility
55 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
2
States / cities
Decatur, Georgia • Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Sep 28, 2015 · Synced Jul 21, 2026, 11:23 AM EDT
Completed Not applicable Interventional

Auditory Neural Function in Implanted Patients With Usher Syndrome

NCT04906135
View directory record Official record
Conditions
Usher Syndrome, Cochlear Implantation
Interventions
Experimental manipulation of stimulation parameters
Other
Lead sponsor
Ohio State University
Other
Eligibility
1 Year to 85 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
4
States / cities
Boston, Massachusetts • Columbus, Ohio • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 28, 2025 · Synced Jul 21, 2026, 11:23 AM EDT
Completed Phase 2 Interventional Results available

Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa

NCT01530659
View directory record Official record
Conditions
Retinitis Pigmentosa, Usher Syndrome Type 2, Usher Syndrome Type 3
Interventions
NT-501, Sham
Drug · Procedure
Lead sponsor
Neurotech Pharmaceuticals
Industry
Eligibility
18 Years to 55 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Feb 13, 2023 · Synced Jul 21, 2026, 11:23 AM EDT
Completed Phase 1Phase 2 Interventional Results available

A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome

NCT02829268
View directory record Official record
Conditions
Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Ataxia
Interventions
dantrolene sodium
Drug
Lead sponsor
Washington University School of Medicine
Other
Eligibility
5 Years to 60 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Mar 12, 2024 · Synced Jul 21, 2026, 11:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Tracking Neurodegeneration in Early Wolfram Syndrome

NCT02455414
View directory record Official record
Conditions
Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
Interventions
Not listed
Lead sponsor
Washington University School of Medicine
Other
Eligibility
1 Day and older
Enrollment
101 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2017
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Jul 10, 2018 · Synced Jul 21, 2026, 11:23 AM EDT