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Showing 1–24 of 100 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Ear; Deformity, Congenital Clear all
Completed No phase listed Observational

Using Positron Emission Tomography to Predict Intracranial Tumor Growth in Neurofibromatosis Type II Patients

NCT01222728
View directory record Official record
Conditions
Neoplasms, Nervous System Disease, Vestibular Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
18 Years to 50 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 16, 2019 · Synced Jul 21, 2026, 11:08 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 21, 2026, 11:08 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 21, 2026, 11:08 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 21, 2026, 11:08 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 21, 2026, 11:08 AM EDT
Terminated No phase listed Observational

Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)

NCT02095015
View directory record Official record
Conditions
Mucopolysaccharidosis (MPS)
Interventions
Not listed
Lead sponsor
Shire
Industry
Eligibility
Up to 7 Years · Male only
Enrollment
159 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
7
States / cities
Los Angeles, California • Jacksonville, Florida • Minneapolis, Minnesota + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 16, 2021 · Synced Jul 21, 2026, 11:08 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 21, 2026, 11:08 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 21, 2026, 11:08 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 21, 2026, 11:08 AM EDT
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors

NCT00973739
View directory record Official record
Conditions
Neurofibromatosis 2, Vestibular Schwannoma
Interventions
Lapatinib
Drug
Lead sponsor
NYU Langone Health
Other
Eligibility
4 Years to 80 Years
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2012
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 21, 2016 · Synced Jul 21, 2026, 11:08 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 21, 2026, 11:08 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Vestibular Precision: Physiology & Pathophysiology

NCT04890132
View directory record Official record
Conditions
Vestibular Schwannoma, Inner Ear Disease, Dizziness, Neurofibromatosis 2, Vestibular Disorder
Interventions
VOR precision training
Behavioral
Lead sponsor
Massachusetts Eye and Ear Infirmary
Other
Eligibility
8 Years to 80 Years
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 15, 2023 · Synced Jul 21, 2026, 11:08 AM EDT
Completed Phase 2 Interventional Accepts healthy volunteers Results available

AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas

NCT02831257
View directory record Official record
Conditions
Neurofibromatosis 2, Meningioma
Interventions
AZD2014
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years and older
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 12, 2022 · Synced Jul 21, 2026, 11:08 AM EDT
Terminated Not applicable Interventional

Evaluation of the Auryzon Devices in the Optimization of Ear and Nose Reconstruction Procedures

NCT03624608
View directory record Official record
Conditions
Ear Deformities, Acquired, Ear; Deformity, Congenital, Microtia, Nose Deformity, Nose Deformities, Acquired, Nose; Deformity, Congenital, Nose; Deformity, Congenital, Bent or Squashed, Nose; Deformity, Syphilitic, Congenital, Nose; Deformity, Bone (Nose Cartilage), Nose; Deformity, Septum, Congenital, Nose; Deformity, Sinus (Wall), Congenital, Nose; Deformity, Syphilitic, Late (Etiology), Ear; Deformity, External, Ear; Deformity, Auricle, Ear, Acquired, Ear; Deformity, Auricle, Ear (Congenital)
Interventions
AuryzoN Family of Devices
Device
Lead sponsor
Reconstrata, LLC
Industry
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 22, 2025 · Synced Jul 21, 2026, 11:08 AM EDT
Completed Early Phase 1 Interventional

Exploring the Activity of RAD001 in Vestibular Schwannomas and Meningiomas

NCT01880749
View directory record Official record
Conditions
Neurofibromatosis Type 2, Vestibular Schwannomas, Meningiomas
Interventions
RAD001
Drug
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2019
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated May 12, 2020 · Synced Jul 21, 2026, 11:08 AM EDT
Completed Not applicable Interventional

Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing

NCT03406208
View directory record Official record
Conditions
Neurofibromatoses, Neurofibromatosis 1, Neurofibromatosis 2, Schwannomatosis
Interventions
Stress and Symptom Management Program 1, Stress and Symptom Management Program 2
Behavioral
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years and older
Enrollment
228 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 23, 2025 · Synced Jul 21, 2026, 11:08 AM EDT
Completed Phase 2Phase 3 Interventional Results available

Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment

NCT02055118
View directory record Official record
Conditions
Hunter Syndrome
Interventions
idursulfase-IT, No IT treatment
Biological · Other
Lead sponsor
Shire
Industry
Eligibility
Up to 18 Years · Male only
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
3
States / cities
Oakland, California • Chicago, Illinois • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 10, 2021 · Synced Jul 21, 2026, 11:08 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 21, 2026, 11:08 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 21, 2026, 11:08 AM EDT
Active, not recruiting No phase listed Observational

MElanoma Research Lymph Node Prediction Implementation National_001

NCT04759781
View directory record Official record
Conditions
Melanoma
Interventions
Not listed
Lead sponsor
SkylineDx
Industry
Eligibility
18 Years and older
Enrollment
1,820 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
9
States / cities
Tampa, Florida • Atlanta, Georgia • Lexington, Kentucky + 6 more
Source: ClinicalTrials.gov public record
Updated Apr 22, 2026 · Synced Jul 21, 2026, 11:08 AM EDT
Terminated Phase 1Phase 2 Interventional

Subcutaneous Implant Combination Product (AUR-201) in Patients With Unilateral Microtia

NCT06072040
View directory record Official record
Conditions
Microtia
Interventions
AUR-201
Combination Product
Lead sponsor
Auregen Biotherapeutics, SA
Industry
Eligibility
8 Years to 29 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Nov 20, 2025 · Synced Jul 21, 2026, 11:08 AM EDT
Completed Phase 2Phase 3 Interventional Results available

Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase

NCT00630747
View directory record Official record
Conditions
Hunter Syndrome, Mucopolysaccharidosis II (MPS II)
Interventions
Idursulfase
Biological
Lead sponsor
Shire
Industry
Eligibility
5 Years and older · Male only
Enrollment
94 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2008
U.S. locations
16
States / cities
Phoenix, Arizona • Oakland, California • Denver, Colorado + 13 more
Source: ClinicalTrials.gov public record
Updated Jun 9, 2021 · Synced Jul 21, 2026, 11:08 AM EDT
Completed Phase 1Phase 2 Interventional Results available

A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®

NCT00920647
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg), Idursulfase IT (30 mg)
Other · Drug
Lead sponsor
Shire
Industry
Eligibility
3 Years to 18 Years · Male only
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 27, 2021 · Synced Jul 21, 2026, 11:08 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 21, 2026, 11:08 AM EDT