- 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
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Showing 1–24
of 102
matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
- 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
- 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
- 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
- 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
- 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
- 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, 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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