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ClinicalTrials.gov public records Last synced Oct 20, 2026, 5:37 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 1–16 of 16 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Neurogenetic Disorders Clear all
Active, not recruiting No phase listed Observational

Genetic and Physical Study of Childhood Nerve and Muscle Disorders

NCT01568658
View directory record Official record
Conditions
Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies, Inherited Neuromuscular Conditions
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
1 Day to 100 Years
Enrollment
2,586 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Not yet recruiting Phase 1Phase 2 Interventional

Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)

NCT06948019
View directory record Official record
Conditions
HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50, Hereditary Spastic Paraplegia Type 47, Hereditary Spastic Paraplegia Type 51, Hereditary Spastic Paraplegia Type 52, SPG47, AP4B1, Neurogenetic Disorders, Neurodevelopmental Conditions, Movement Disorders, Gene Therapy
Interventions
BFB-101 (AAV9-CBh-AP4B1)
Biological
Lead sponsor
BlackfinBio Ltd
Industry
Eligibility
12 Months to 60 Months
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2032
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 28, 2025 · Synced Oct 20, 2026, 5:37 AM EDT
Active, not recruiting No phase listed Observational

Electrophysiologic Sleep Phenotyping and Sleep-Dependent Neuro-maturation in Clinical and Healthy Pediatric Populations

NCT04639830
View directory record Official record
Conditions
Healthy Children, Children With Neurodevelopmental Disorders, Children With Neuropsychiatric Disorders, Children With Behavioral Syndromes
Interventions
Not listed
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
6 Months to 8 Years
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Recruiting No phase listed Observational

Neurogenetics Patient Registry

NCT02995538
View directory record Official record
Conditions
Neurogenetic Disorders
Interventions
Not listed
Lead sponsor
University of Pittsburgh
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 6, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Completed Phase 2 Interventional

Insulin, Neurogenetics and Memory in Alzheimer's Disease

NCT00018382
View directory record Official record
Conditions
Alzheimer Disease
Interventions
rosiglitazone
Drug
Lead sponsor
US Department of Veterans Affairs
Federal
Eligibility
55 Years to 80 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2003
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jan 21, 2009 · Synced Oct 20, 2026, 5:37 AM EDT
Recruiting No phase listed Observational

A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes

NCT06585605
View directory record Official record
Conditions
Epilepsy in Children, Dyskinesias, Movement Disorders in Children, Neurologic Disorder, Chorea, Myoclonus, Ataxia, Epilepsy, Dystonia Disorder, Movement Disorders
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
0 Years to 18 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Recruiting No phase listed Observational

Registry and Natural History of Epilepsy-Dyskinesia Syndromes

NCT06967727
View directory record Official record
Conditions
Epilepsy-Dyskinesia, Epilepsy, Dyskinesia, EDS, Epilepsy-Dyskinesia Syndomes, Epilepsy in Children, Dyskinesias, Movement Disorders in Children, Neurologic Disorder, Chorea, Myoclonus, Ataxia, Dystonia Disorder, Movement Disorders
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
0 Years to 30 Years
Enrollment
700 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 17, 2025 · Synced Oct 20, 2026, 5:37 AM EDT
Recruiting No phase listed Observational

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

NCT05354622
View directory record Official record
Conditions
Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle, Motor Neuron Disease, Movement Disorders
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Month to 30 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Active, not recruiting Phase 3 Interventional

Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials

NCT05335876
View directory record Official record
Conditions
Spinal Muscular Atrophy (SMA)
Interventions
onasemnogene abeparvovec
Biological
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
0 Years to 100 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2031
U.S. locations
1
States / cities
Norfolk, Virginia
Source: ClinicalTrials.gov public record
Updated Jul 9, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)

NCT07329257
View directory record Official record
Conditions
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder, Epilepsy, Seizure, Genetic Mutations, Autism in Children, Developmental Delay (Disorder)
Interventions
No Intervention: Observational Cohort
Other
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
Up to 99 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
1
States / cities
Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Jan 9, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Neurogenetic Pharmaceuticals (NGP) 555 in Healthy Volunteers (14 Day Multiple Ascending Dose)

NCT02537938
View directory record Official record
Conditions
Alzheimer's Disease
Interventions
NGP 555
Drug
Lead sponsor
NeuroGenetic Pharmaceuticals Inc
Industry
Eligibility
40 Years to 65 Years
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016
U.S. locations
1
States / cities
Cypress, California
Source: ClinicalTrials.gov public record
Updated Mar 29, 2017 · Synced Oct 20, 2026, 5:37 AM EDT
Recruiting No phase listed Observational

Longitudinal Study of Neurogenetic Disorders

NCT03492060
View directory record Official record
Conditions
Neurodevelopmental Disorders, Intellectual Disability, Developmental Delay, Autism Spectrum Disorder, Seizures, Hypertonia, Muscle, Hypotonia
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2030
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Oct 27, 2025 · Synced Oct 20, 2026, 5:37 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Parent and Infant Inter(X)Action Intervention (PIXI)

NCT03836300
View directory record Official record
Conditions
Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Rett Syndrome, Smith Magenis Syndrome, Williams Syndrome, Turner Syndrome, Klinefelter Syndrome, Chromosome 22q11.2 Deletion Syndrome, Tuberous Sclerosis, Down Syndrome
Interventions
Parent-Infant Inter(X)action Intervention (PIXI)
Behavioral
Lead sponsor
RTI International
Other
Eligibility
Up to 99 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Neurogenetic Pharmaceuticals (NGP) 555 in Healthy Young Volunteers (Single-ascending Dose)

NCT02534480
View directory record Official record
Conditions
Alzheimer's Disease
Interventions
NGP 555
Drug
Lead sponsor
NeuroGenetic Pharmaceuticals Inc
Industry
Eligibility
18 Years to 55 Years
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015
U.S. locations
1
States / cities
Cypress, California
Source: ClinicalTrials.gov public record
Updated Jan 13, 2016 · Synced Oct 20, 2026, 5:37 AM EDT
Recruiting Early Phase 1 Interventional

Aprepitant for the Treatment of CLIFAHDD

NCT07845825
View directory record Official record
Conditions
CLIFAHDD, Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay, NALCN Channelopathy, Ataxia - Other, Neurodevelopmental Disorder (Diagnosis)
Interventions
Aprepitant Powder for Oral Suspension
Drug
Lead sponsor
The University of Texas Health Science Center at San Antonio
Other
Eligibility
6 Months and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 20, 2026, 5:37 AM EDT
Terminated Phase 2 Interventional

A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.

NCT03254199
View directory record Official record
Conditions
Charcot-Marie-Tooth Disease
Interventions
FLX-787-ODT (orally disintegrating tablet), Placebo ODT
Drug
Lead sponsor
Flex Pharma, Inc.
Industry
Eligibility
18 Years and older
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
20
States / cities
Scottsdale, Arizona • Aurora, Colorado • New Britain, Connecticut + 16 more
Source: ClinicalTrials.gov public record
Updated Aug 29, 2018 · Synced Oct 20, 2026, 5:37 AM EDT