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Showing 1–24 of 1,527 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Brain Malformation Clear all
Recruiting No phase listed Observational

A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)

NCT05813678
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
450 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2033
U.S. locations
12
States / cities
Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 9 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Jul 21, 2026, 10:21 PM EDT
Not listed Phase 2Phase 3 Interventional

MIST II PFO-Migraine Trial With BioSTAR® Bioabsorbable Septal Repair Implant

NCT00283738
View directory record Official record
Conditions
Migraine, Aura, Patent Foramen Ovale
Interventions
BioSTAR Septal Repair Implant System, Sham Procedure
Device · Procedure
Lead sponsor
NMT Medical
Industry
Eligibility
18 Years to 60 Years
Enrollment
610 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
2
States / cities
Stamford, Connecticut • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jan 24, 2008 · Synced Jul 21, 2026, 10:21 PM EDT
Terminated Phase 2 Interventional Results available

N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)

NCT03759678
View directory record Official record
Conditions
Ataxia Telangiectasia
Interventions
IB1001
Drug
Lead sponsor
IntraBio Inc
Industry
Eligibility
6 Years and older
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Jul 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM EDT
No Longer Available No phase listed Expanded access

Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism

NCT01461304
View directory record Official record
Conditions
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency, Glycogen Storage Disorders, Pyruvate Carboxylase Deficiency Disease, ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of, Barth Syndrome
Interventions
triheptanoin
Drug
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
1 Month and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 9, 2021 · Synced Jul 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM EDT
Terminated Phase 1Phase 2 Interventional

A Fabry Disease Gene Therapy Study

NCT04040049
View directory record Official record
Conditions
Fabry Disease, Lysosomal Storage Diseases
Interventions
FLT190
Genetic
Lead sponsor
Spur Therapeutics
Industry
Eligibility
18 Years and older · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
4
States / cities
Los Angeles, California • New York, New York • Pittsburgh, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2023 · Synced Jul 21, 2026, 10:21 PM EDT
Completed No phase listed Observational

Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)

NCT01114815
View directory record Official record
Conditions
CADASIL
Interventions
Not listed
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 20, 2013 · Synced Jul 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Impact of Elastin Mediated Vascular Stiffness on End Organs

NCT02840448
View directory record Official record
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
3 Years to 85 Years
Enrollment
159 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2024
U.S. locations
2
States / cities
Bethesda, Maryland • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Jul 21, 2026, 10:21 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria

NCT01659749
View directory record Official record
Conditions
Pregnancy, Phenylketonuria
Interventions
Metabolic camp
Behavioral
Lead sponsor
Emory University
Other
Eligibility
11 Years and older · Female only
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1995 – 2037
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced Jul 21, 2026, 10:21 PM EDT
Completed Early Phase 1 Interventional

Using Ferumoxytol-Enhanced MRI to Measure Inflammation in Patients With Brain Tumors or Other Conditions of the CNS

NCT02452216
View directory record Official record
Conditions
Brain Injury, Central Nervous System Degenerative Disorder, Central Nervous System Infectious Disorder, Central Nervous System Vascular Malformation, Hemorrhagic Cerebrovascular Accident, Ischemic Cerebrovascular Accident, Primary Brain Neoplasm, Brain Cancer, Brain Tumors
Interventions
Ferumoxytol, Tissue Analysis, Magnetic Resonance Imaging
Drug · Other · Procedure
Lead sponsor
Michael Iv
Other
Eligibility
2 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Aug 30, 2017 · Synced Jul 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM EDT
Terminated Phase 3 Interventional Results available

Efficacy and Safety of Intravenous Phenobarbital in Neonatal Seizures

NCT04320940
View directory record Official record
Conditions
Epilepsy, Benign Neonatal
Interventions
Phenobarbital Sodium Injection
Drug
Lead sponsor
NEMA Research, Inc.
Industry
Eligibility
34 Weeks to 44 Weeks
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
7
States / cities
Little Rock, Arkansas • Washington D.C., District of Columbia • Miami, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 25, 2023 · Synced Jul 21, 2026, 10:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History Study - Mitochondrial Disease

NCT01532791
View directory record Official record
Conditions
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
4 Years and older
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 22, 2026 · Synced Jul 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM EDT
Enrolling by invitation Phase 2 Interventional

Sirolimus for Leigh Syndrome

NCT06843811
View directory record Official record
Conditions
Leigh Syndrome
Interventions
Sirolimus
Drug
Lead sponsor
Matthew Demczko
Other
Eligibility
6 Months to 55 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 30, 2026 · Synced Jul 21, 2026, 10:21 PM 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 21, 2026, 10:21 PM EDT
Active, not recruiting Phase 3 Interventional

Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency

NCT05345171
View directory record Official record
Conditions
OTC Deficiency
Interventions
DTX301, Placebo, Oral Corticosteroids, Placebo for oral corticosteroids, Sodium Acetate
Genetic · Other · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
12 Years and older
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2031
U.S. locations
4
States / cities
Los Angeles, California • Aurora, Colorado • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 1, 2026 · Synced Jul 21, 2026, 10:21 PM EDT