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Showing 1–24 of 63 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Congenital Hearing Impairment Clear all
Completed Not applicable Interventional Accepts healthy volunteers Results available

Promoting Early Diagnosis of Congenital Hearing Loss With Patient Navigators

NCT01917747
View directory record Official record
Conditions
Congenital Hearing Loss
Interventions
Patient Navigator, Standard scheduling and follow-up
Behavioral
Lead sponsor
Matthew Bush, MD
Other
Eligibility
Not listed
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2020
U.S. locations
2
States / cities
Lexington, Kentucky • Louisville, Kentucky
Source: ClinicalTrials.gov public record
Updated Mar 30, 2020 · Synced Jul 22, 2026, 2:08 AM EDT
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 22, 2026, 2:08 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 22, 2026, 2:08 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.

NCT02082431
View directory record Official record
Conditions
Sensorineural Hearing Loss, Long QT Syndrome
Interventions
Not listed
Lead sponsor
Pediatrix
Other
Eligibility
1 Day to 90 Days
Enrollment
600 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2020
U.S. locations
12
States / cities
Anchorage, Alaska • Phoenix, Arizona • Waterford, Connecticut + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 4, 2020 · Synced Jul 22, 2026, 2:08 AM EDT
Completed Not applicable Interventional

NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

NCT01969370
View directory record Official record
Conditions
Cancer, Cardiovascular Disease, Neurologic Dysfunction, Congenital Abnormalities, Hearing Loss
Interventions
Experimental
Behavioral
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Not listed
Enrollment
645 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated May 2, 2017 · Synced Jul 22, 2026, 2:08 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 22, 2026, 2:08 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 22, 2026, 2:08 AM EDT
Completed Not applicable Interventional Results available

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

NCT03548779
View directory record Official record
Conditions
Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions
Pre-visit prep, usual care + exome seq
Behavioral · Diagnostic Test
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
0 Years and older
Enrollment
548 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
3
States / cities
Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
Source: ClinicalTrials.gov public record
Updated May 12, 2025 · Synced Jul 22, 2026, 2:08 AM EDT
Recruiting Phase 4 Interventional Accepts healthy volunteers

Effects of Bisphosphonates on OI-Related Hearing Loss

NCT04152551
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Risedronate Oral Tablet
Drug
Lead sponsor
Hospital for Special Surgery, New York
Other
Eligibility
6 Years to 100 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 27, 2026 · Synced Jul 22, 2026, 2:08 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 22, 2026, 2:08 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 22, 2026, 2:08 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 22, 2026, 2:08 AM EDT
Recruiting No phase listed Observational

Natural History Study for Charcot Marie Tooth Disease

NCT05902351
View directory record Official record
Conditions
Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth, Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A, Charcot-Marie-Tooth Disease Type 2, Charcot-Marie-Tooth Disease, Type 2C, Charcot-Marie-Tooth Disease Type 2A2B, Charcot-Marie-Tooth Disease Type 2B2, Charcot-Marie-Tooth Disease Type 2A1, Charcot-Marie-Tooth Disease Type 4B1, Charcot-Marie-Tooth Disease, Type IB, Charcot-Marie-Tooth Disease Type 2B1, Charcot-Marie-Tooth Disease Type 2U (Diagnosis), Charcot-Marie-Tooth Disease Type 4A, Charcot-Marie-Tooth Disease, Type 4A, Axonal Form, Charcot-Marie-Tooth Disease Type 2A2A, Charcot-Marie-Tooth Disease Type 2S (Disorder), Charcot-Marie-Tooth Disease and Deafness, Charcot-Marie-Tooth Disease Type 4B2, Charcot-Marie-Tooth Disease Type 4H, Charcot-Marie-Tooth Disease Type 1F, Charcot-Marie-Tooth Disease Type 4C, Charcot-Marie-Tooth Disease Type 4E, Charcot-Marie-Tooth Disease Type 1D, Charcot-Marie-Tooth Disease Type 2Q (Diagnosis), Charcot-Marie-Tooth Disease Type 2A2, Charcot-Marie-Tooth Disease Type 2N (Diagnosis), Charcot-Marie-Tooth Disease Type 2B5, Charcot-Marie-Tooth Disease Type 2D, Charcot-Marie-Tooth Disease Type 4D, Charcot-Marie-Tooth Disease Type 2K, Charcot-Marie-Tooth Disease Type 2L (Diagnosis), Charcot-Marie-Tooth Disease Type 2T, Charcot-Marie-Tooth Disease Type 2I, Charcot-Marie-Tooth Disease Type 2J, Charcot-Marie-Tooth Disease Type 2E, Charcot-Marie-Tooth Disease Type 2G, Charcot-Marie-Tooth Disease Type 1C, Charcot-Marie-Tooth Disease Type 2R, Charcot-Marie-Tooth Disease Type 2O (Diagnosis), Charcot-Marie-Tooth Disease Type 2M, Charcot-Marie-Tooth Disease Type 2P, Charcot-Marie-Tooth Disease Type 2Y, Charcot-Marie-Tooth Disease Type 4F (Diagnosis), Charcot-Marie-Tooth Disease Type 4B3, Charcot-Marie-Tooth Disease Type 2H, HNPP, X-Linked Charcot-Marie-Tooth Disease
Interventions
Not listed
Lead sponsor
Hereditary Neuropathy Foundation
Government
Eligibility
Not listed
Enrollment
10,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2029
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 30, 2024 · Synced Jul 22, 2026, 2:08 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 22, 2026, 2:08 AM EDT
Completed Phase 2 Interventional

Effectiveness of Therapy Via Telemedicine Following Cochlear Implants

NCT02497690
View directory record Official record
Conditions
Congenital Sensorineural Deafness
Interventions
Telemedicine, In-person ART
Behavioral
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Months to 6 Years
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2019
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 18, 2021 · Synced Jul 22, 2026, 2:08 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 22, 2026, 2:08 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 22, 2026, 2:08 AM EDT
Completed No phase listed Observational

Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors

NCT00001668
View directory record Official record
Conditions
Deafness, Kidney Diseases, Kidney Neoplasms, Neoplasms, Retinal Diseases
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jul 22, 2026, 2:08 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 22, 2026, 2:08 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 22, 2026, 2:08 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 22, 2026, 2:08 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 22, 2026, 2:08 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 22, 2026, 2:08 AM EDT
Completed Phase 2 Interventional Results available

SPI-1005 for Prevention and Treatment of Tobramycin Induced Ototoxicity

NCT02819856
View directory record Official record
Conditions
Ototoxicity
Interventions
Placebo, SPI-1005 Ebselen 200mg Capsule x1, SPI-1005 Ebselen 200mg Capsule x2, SPI-1005 Ebselen 200mg Capsule x3
Drug
Lead sponsor
Sound Pharmaceuticals, Incorporated
Industry
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated Jul 15, 2026 · Synced Jul 22, 2026, 2:08 AM EDT