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Conditions: Neurofibromatosis 2
Interventions: Penetrating auditory brainstem implant; Device
Lead sponsor: FDA Office of Orphan Products Development; Federal
Eligibility: 18 Years and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2003
U.S. locations: 3
States / cities: Los Angeles, California • Pasadena, California • Englewood, Colorado

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

Conditions: Craniosynostosis, Muenke Syndrome
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month and older
Enrollment: 137 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2020
U.S. locations: 2
States / cities: Washington D.C., District of Columbia • Bethesda, Maryland

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

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

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

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

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

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

Conditions: Retinal Degeneration, Retinitis Pigmentosa, Eye Diseases, Hereditary
Interventions: Not listed
Lead sponsor: Jaeb Center for Health Research; Other
Eligibility: 8 Years and older
Enrollment: 44 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2027
U.S. locations: 3
States / cities: San Francisco, California • Baltimore, Maryland • Durham, North Carolina

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

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

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

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

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

Conditions: Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions: Well infant, whole exome sequencing, Diagnosed, whole exome sequencing; Genetic
Lead sponsor: University of North Carolina, Chapel Hill; Other
Eligibility: 1 Hour to 5 Years
Enrollment: 106 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2016 – 2019
U.S. locations: 1
States / cities: Chapel Hill, North Carolina

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

Conditions: Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes, Deletion and Duplication of Mitochondrial DNA
Interventions: Not listed
Lead sponsor: Columbia University; Other
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2011 – 2026
U.S. locations: 16
States / cities: San Diego, California • Stanford, California • Aurora, Colorado + 12 more

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

Conditions: MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
Interventions: Glycerol Tributyrate; Drug
Lead sponsor: George Washington University; Other
Eligibility: 18 Years to 65 Years
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2028
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss
Interventions: Antioxidants, Cholesterol; Drug
Lead sponsor: University of Colorado, Denver; Other
Eligibility: Up to 65 Years
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2025
U.S. locations: 1
States / cities: Aurora, Colorado

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

Conditions: Mitochondrial Disease
Interventions: N-Acetylcysteine; Drug
Lead sponsor: Michio Hirano, MD; Other
Eligibility: 18 Years to 80 Years
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2026
U.S. locations: 1
States / cities: New York, New York

Conditions: Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
Interventions: Not listed
Lead sponsor: Regeneron Pharmaceuticals; Industry
Eligibility: Up to 7 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2030
U.S. locations: 2
States / cities: Phoenix, Arizona • Columbus, Ohio

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An Implant for Hearing Loss Due to Removal of Neurofibromatosis 2 Tumors

NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

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

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

Workshops for Veterans With Vision and Hearing Loss

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

Effectiveness of Therapy Via Telemedicine Following Cochlear Implants

Inherited Retinal Degenerative Disease Registry

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F

Stem Cell Ophthalmology Treatment Study II

Auditory Neural Function in Implanted Patients With Usher Syndrome

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)

AMX0035 in Adult Patients With Wolfram Syndrome

Palliative Care Needs of Children With Rare Diseases and Their Families

North Carolina Newborn Exome Sequencing for Universal Screening

I-Tracking Neurodegeneration in Early Wolfram Syndrome

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

Natural History and Genetic Studies of Usher Syndrome

A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

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

Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels

A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations