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Showing 1–24 of 1,248 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Nervous System Heredodegenerative Disorder 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 22, 2026, 6:02 AM EDT
Active, not recruiting Not applicable Interventional

Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

NCT03820778
View directory record Official record
Conditions
Neurofibromatosis 1, Neurofibroma, Atypical Neurofibroma, Atypical Neurofibromatosis, Plexiform Neurofibroma, Von Recklinghausen Disease
Interventions
Whole Body MRI
Diagnostic Test
Lead sponsor
Children's National Research Institute
Other
Eligibility
8 Years to 30 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Mar 1, 2021 · Synced Jul 22, 2026, 6:02 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Identification of Biomarkers in Spinocerebellar Ataxia 3

NCT03885167
View directory record Official record
Conditions
Spinocerebellar Ataxia Type 3
Interventions
Specimen Collection
Other
Lead sponsor
University of Michigan
Other
Eligibility
18 Years and older
Enrollment
22 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2023
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Nov 21, 2023 · Synced Jul 22, 2026, 6:02 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Phase 1 Study To Evaluate The Pharmacokinetics, Safety, And Tolerability Of Dimebon [PF-01913539] In Japanese And Western Healthy Subjects

NCT00825084
View directory record Official record
Conditions
Alzheimer's Disease, Huntington's Disease
Interventions
Dimebon
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 55 Years
Enrollment
45 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009
U.S. locations
1
States / cities
Glendale, California
Source: ClinicalTrials.gov public record
Updated Apr 25, 2011 · Synced Jul 22, 2026, 6:02 AM EDT
Completed No phase listed Observational

The Use of a Distress Thermometer in a Pediatric Research Setting: An Exploratory Pilot Study

NCT00824278
View directory record Official record
Conditions
Cancer, HIV Infections
Interventions
Not listed
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
7 Years to 21 Years
Enrollment
289 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 16, 2019 · Synced Jul 22, 2026, 6:02 AM EDT
Active, not recruiting Phase 2 Interventional

Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge

NCT05418049
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Baclofen, Memantine, Roflumilast, Placebo
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 45 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 22, 2025 · Synced Jul 22, 2026, 6:02 AM EDT
Recruiting No phase listed Observational

NYSCF Scientific Discovery Biobank

NCT06203106
View directory record Official record
Conditions
ALS, Amyotrophic Lateral Sclerosis, Alzheimer Disease, Alzheimer Disease, Early Onset, Alzheimer Disease, Late Onset, Batten Disease, Corticobasal Degeneration, Dementia, Frontotemporal Dementia, Huntington Disease, Lewy Body Disease, Multiple Sclerosis, Multiple System Atrophy, Parkinson Disease, Parkinson's Disease and Parkinsonism, Progressive Supranuclear Palsy, INAD, Diabetes, Diabetes Mellitus, Diabetes Mellitus, Type 2, Diabetes Mellitus, Type 1, Macular Degeneration, Ovarian Cancer, Cervical Cancer, Uterine Cancer, Vaginal Cancer, Vulvar Cancer, PTSD, Post Traumatic Stress Disorder
Interventions
Biological Sample Collection
Other
Lead sponsor
New York Stem Cell Foundation Research Institute
Other
Eligibility
30 Days and older
Enrollment
10,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2045
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 2, 2025 · Synced Jul 22, 2026, 6:02 AM EDT
Recruiting Phase 2 Interventional

An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia

NCT06447025
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
CTI-1601
Drug
Lead sponsor
Larimar Therapeutics, Inc.
Industry
Eligibility
2 Years to 60 Years
Enrollment
85 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
8
States / cities
Los Angeles, California • Gainesville, Florida • Tampa, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced Jul 22, 2026, 6:02 AM EDT
Not yet recruiting No phase listed Observational Accepts healthy volunteers

Multi-Modal Digital Monitoring of Disease Symptoms Huntington's Disease

NCT07315984
View directory record Official record
Conditions
Huntington Disease
Interventions
Not listed
Lead sponsor
BioSensics
Industry
Eligibility
25 Years to 65 Years
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2028
U.S. locations
2
States / cities
Rochester, New York • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jan 4, 2026 · Synced Jul 22, 2026, 6:02 AM EDT
Completed Phase 1 Interventional Results available

Study to Measure Cerebrospinal Fluid Mutant Huntingtin Protein in Participants With Early Manifest Stage I or Stage II Huntington's Disease

NCT03664804
View directory record Official record
Conditions
Huntington's Disease
Interventions
No Study Drug was Administered in this Study
Other
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
25 Years to 65 Years
Enrollment
95 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
6
States / cities
Englewood, Colorado • Washington D.C., District of Columbia • Wichita, Kansas + 3 more
Source: ClinicalTrials.gov public record
Updated Jan 2, 2025 · Synced Jul 22, 2026, 6:02 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography

NCT01683825
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
F-18 florbetapir PET
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
23 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 19, 2025 · Synced Jul 22, 2026, 6:02 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

NCT02413450
View directory record Official record
Conditions
Inherited Cardiac Arrythmias, Long QT Syndrome (LQTS), Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Early Repolarization Syndrome (ERS), Arrhythmogenic Cardiomyopathy (AC, ARVD/C), Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Normal Control Subjects
Interventions
Not listed
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 85 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2031
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 15, 2026 · Synced Jul 22, 2026, 6:02 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Phenotype, Genotype and Biomarkers 2

NCT04875416
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy, Frontotemporal Dementia
Interventions
Not listed
Lead sponsor
University of Miami
Other
Eligibility
7 Years and older
Enrollment
217 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2031
U.S. locations
3
States / cities
Miami, Florida • Kansas City, Kansas • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 14, 2026 · Synced Jul 22, 2026, 6:02 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Speech-in-noise Perception in Autism and Fragile X

NCT06088589
View directory record Official record
Conditions
Autism Spectrum Disorder, Fragile X Syndrome
Interventions
Mismatch negativity
Behavioral
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
15 Years to 35 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Jul 22, 2026, 6:02 AM EDT
Terminated Not applicable Interventional Results available

Fludeoxyglucose F 18 Positron Emission Tomography and Magnetic Resonance Perfusion Imaging in Patients With Neurofibromatosis 1 and Plexiform Neurofibroma

NCT00060008
View directory record Official record
Conditions
Neurofibromatosis Type 1, Precancerous Condition
Interventions
fludeoxyglucose F 18, gadopentetate dimeglumine
Radiation
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Up to 25 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2011
U.S. locations
2
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 3, 2014 · Synced Jul 22, 2026, 6:02 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Phase 1, Non-Randomized, Open-Label, Single-Dose Study To Evaluate The Pharmacokinetics, Safety, And Tolerability Of Dimebon [PF 01913539] In Subjects With Severely-Impaired And Normal Renal Function

NCT00824590
View directory record Official record
Conditions
Alzheimer's Disease, Huntington's Disease
Interventions
Dimebon
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 75 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009
U.S. locations
2
States / cities
Miami, Florida • Saint Paul, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 29, 2009 · Synced Jul 22, 2026, 6:02 AM EDT
Terminated Phase 3 Interventional

ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases

NCT00654433
View directory record Official record
Conditions
Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism, Mucopolysaccharidosis
Interventions
ALD-101
Biological
Lead sponsor
Aldagen
Industry
Eligibility
Up to 16 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
3
States / cities
Los Angeles, California • New York, New York • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 7, 2014 · Synced Jul 22, 2026, 6:02 AM EDT
Terminated Not applicable Interventional Results available

Thalamic Deep Brain Stimulation for the Treatment of Refractory Tourette Syndrome

NCT01817517
View directory record Official record
Conditions
Tourette Syndrome
Interventions
Medtronic Activa Deep Brain Stimulation System
Device
Lead sponsor
Johns Hopkins University
Other
Eligibility
15 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2023
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 27, 2026 · Synced Jul 22, 2026, 6:02 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Extinction Learning in Adults With Tourette Syndrome

NCT04498364
View directory record Official record
Conditions
Tourette Syndrome, Habit Reversal Training, Tic Disorders, Tics, Comprehensive Behavioral Intervention for Tics
Interventions
Habit Reversal Training
Behavioral
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 75 Years
Enrollment
10 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2023
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 22, 2023 · Synced Jul 22, 2026, 6:02 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1

NCT06844214
View directory record Official record
Conditions
Myotonic Dystrophy
Interventions
SAR446268
Biological
Lead sponsor
Sanofi
Industry
Eligibility
10 Years to 55 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2032
U.S. locations
4
States / cities
Gainesville, Florida • Tampa, Florida • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated May 31, 2026 · Synced Jul 22, 2026, 6:02 AM EDT
Completed No phase listed Observational

Pediatric Patients With Metabolic or Other Genetic Disorders

NCT02769949
View directory record Official record
Conditions
Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Year to 99 Years
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 1, 2025 · Synced Jul 22, 2026, 6:02 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, 6:02 AM EDT
Terminated Phase 1Phase 2 Interventional Results available

Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II

NCT03041324
View directory record Official record
Conditions
Mucopolysaccharidosis II, MPS II
Interventions
SB-913
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
5 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
5
States / cities
Oakland, California • Chicago, Illinois • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 24, 2022 · Synced Jul 22, 2026, 6:02 AM EDT
Recruiting No phase listed Observational

Determining the Association of TTR Stabilizing Therapy With Circulating TTR Amyloid Aggregates Over Time in Patients With ATTR-CM: Longitudinal Biomarker Study

NCT07196839
View directory record Official record
Conditions
Transthyretin (TTR) Amyloid Cardiomyopathy
Interventions
Not listed
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
30 Years to 80 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jan 6, 2026 · Synced Jul 22, 2026, 6:02 AM EDT