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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

Conditions: Cytomegalovirus Infection
Interventions: Placebo, Valganciclovir; Other · Drug
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: 1 Month to 4 Years
Enrollment: 54 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2019
U.S. locations: 9
States / cities: Birmingham, Alabama • Washington D.C., District of Columbia • St Louis, Missouri + 6 more

Conditions: Congenital Hearing Loss
Interventions: Navigator Guidance; Behavioral
Lead sponsor: Matthew Bush, MD; Other
Eligibility: Up to 99 Years
Enrollment: 2,699 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2023
U.S. locations: 2
States / cities: Lexington, Kentucky • Louisville, Kentucky

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: 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: 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, Charcot Marie Tooth Disease (CMT)
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

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: Healthy, Tone Deafness
Interventions: Not listed
Lead sponsor: National Institute on Deafness and Other Communication Disorders (NIDCD); NIH
Eligibility: 15 Years and older
Enrollment: 968 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2000 – 2010
U.S. locations: 1
States / cities: Bethesda, Maryland

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: 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

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

Conditions: Congenital CMV Infection, Sensorineural Hearing Loss
Interventions: Not listed
Lead sponsor: Stony Brook University; Other
Eligibility: 0 Days to 1 Year
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 1
States / cities: Stony Brook, New York

Conditions: Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
Interventions: Sonlicromanol, Placebo; Drug
Lead sponsor: Khondrion BV; Industry
Eligibility: 18 Years and older
Enrollment: 220 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2028
U.S. locations: 3
States / cities: Boston, Massachusetts • Cleveland, Ohio • Houston, Texas

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: 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: 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

Conditions: NF2-related Schwannomatosis
Interventions: Auto-captioning Glasses; Device
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years and older
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026
U.S. locations: 1
States / cities: Boston, Massachusetts

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

Conditions: Cmv Congenital, CMV, Congenital Cmv, SNHL, Sensorineural Hearing Loss
Interventions: Valganciclovir, Simple Syrup; Drug
Lead sponsor: Albert Park; Other
Eligibility: 1 Month to 12 Months
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2022
U.S. locations: 30
States / cities: Palo Alto, California • San Diego, California • San Francisco, California + 25 more

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: 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: 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: Single Sided Deafness, Unilateral Deafness, Hearing Loss, Unilateral, Hearing Loss, Congenital Hearing Loss, Deafness One Ear
Interventions: Cochlear Implant; Device
Lead sponsor: University of North Carolina, Chapel Hill; Other
Eligibility: 7 Months to 71 Months
Enrollment: 60 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2030
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Wolfram Syndrome
Interventions: Not listed
Lead sponsor: Washington University School of Medicine; Other
Eligibility: 1 Day and older
Enrollment: 128 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2023
U.S. locations: 1
States / cities: St Louis, Missouri

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SPI-1005 for Prevention and Treatment of Tobramycin Induced Ototoxicity

Valganciclovir Therapy in Infants and Children With Congenital CMV Infection and Hearing Loss

Communities Helping the Hearing of Infants by Reaching Parents

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

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

Natural History Study for Charcot Marie Tooth Disease

Auditory Neural Function in Implanted Patients With Usher Syndrome

Genetic Studies of Tone Deafness

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)

Tracking Neurodegeneration in Early Wolfram Syndrome

Molecular Genetics of Retinal Degenerations

Long-Term Outcomes of Children With Congenital CMV in New York State

KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases

AMX0035 in Adult Patients With Wolfram Syndrome

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

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

Assessment of Patient Experience With Auto-Captioning Glasses in NF2-Related-Schwannomatosis

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

Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

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

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

Cochlear Implants in Young Children With SSD

I-Tracking Neurodegeneration in Early Wolfram Syndrome