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ClinicalTrials.gov public records Last synced Oct 4, 2026, 2:37 AM EDT

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Showing 25–48 of 791 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Brain Diseases, Metabolic, Inborn Clear all
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 15, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
Completed Phase 3 Interventional

Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients

NCT03614234
View directory record Official record
Conditions
Fabry Disease
Interventions
pegunigalsidase alfa
Drug
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
18 Years and older
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
7
States / cities
Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 4 more
Source: ClinicalTrials.gov public record
Updated May 22, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
Completed Phase 2 Interventional

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia

NCT01728064
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
Placebo, EPI-743 400 mg, EPI-743 200 mg
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
18 Years to 45 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
3
States / cities
Los Angeles, California • Tampa, Florida • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 31, 2020 · Synced Oct 4, 2026, 2:37 AM EDT
Completed No phase listed Observational

GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)

NCT05109793
View directory record Official record
Conditions
GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
Interventions
Not listed
Lead sponsor
Azafaros B.V.
Industry
Eligibility
2 Years to 20 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
2
States / cities
Oakland, California • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Sep 29, 2025 · Synced Oct 4, 2026, 2:37 AM EDT
Completed Phase 2 Interventional

Alpha-Galactosidase A Replacement Therapy for Fabry Disease

NCT00048906
View directory record Official record
Conditions
Fabry Disease
Interventions
DRX005B
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 4, 2026, 2:37 AM EDT
Terminated Phase 3 Interventional Accepts healthy volunteers Results available

A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2

NCT04221451
View directory record Official record
Conditions
Tay-Sachs Disease, Sandhoff Disease
Interventions
venglustat GZ402671, placebo
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
2 Years and older
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
5
States / cities
Los Angeles, California • Atlanta, Georgia • Bethesda, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Jan 28, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
Active, not recruiting Phase 3 Interventional Results available

Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria

NCT05270837
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase, Diet Only
Drug · Other
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
12 Years to 17 Years
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
13
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Aurora, Colorado + 10 more
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
Completed Phase 2 Interventional Results available

Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

NCT01599286
View directory record Official record
Conditions
Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency
Interventions
Carbaglu, Placebo
Drug
Lead sponsor
Mendel Tuchman
Other
Eligibility
1 Week to 99 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2020
U.S. locations
9
States / cities
Los Angeles, California • Palo Alto, California • Aurora, Colorado + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 15, 2021 · Synced Oct 4, 2026, 2:37 AM EDT
Terminated Phase 3 Interventional Results available

Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease

NCT03403205
View directory record Official record
Conditions
Wilson Disease
Interventions
ALXN1840, SoC Therapy
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
12 Years and older
Enrollment
214 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
6
States / cities
Los Angeles, California • New Haven, Connecticut • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 17, 2024 · Synced Oct 4, 2026, 2:37 AM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

PCORI Urea Cycle Disorder Study

NCT02740153
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
No Intervention Given
Other
Lead sponsor
Children's National Research Institute
Other
Eligibility
Up to 18 Years
Enrollment
187 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 26, 2021 · Synced Oct 4, 2026, 2:37 AM EDT
Completed No phase listed Observational

Clinical and Pathophysiological Investigations Into Erdheim Chester Disease

NCT01417520
View directory record Official record
Conditions
Myelofibrosis, Gaucher Disease, Pulmonary Fibrosis, Hermansky-Pudlak Syndrome (HPS), Cancer
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 80 Years
Enrollment
88 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 26, 2019 · Synced Oct 4, 2026, 2:37 AM EDT
Completed Phase 1 Interventional

AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease

NCT03533673
View directory record Official record
Conditions
Pompe Disease
Interventions
ACTUS-101
Genetic
Lead sponsor
AskBio Inc
Industry
Eligibility
18 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 13, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
Active, not recruiting Phase 3 Interventional

A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease

NCT05206773
View directory record Official record
Conditions
Fabry Disease
Interventions
Venglustat (GZ402671), Placebo
Drug
Lead sponsor
Sanofi
Industry
Eligibility
16 Years and older
Enrollment
122 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
12
States / cities
Birmingham, Alabama • Los Angeles, California • Orange, California + 9 more
Source: ClinicalTrials.gov public record
Updated Feb 4, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
Recruiting Not applicable Interventional

Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia

NCT05724173
View directory record Official record
Conditions
Anarthria, Dysarthria, Tetraplegia, Spinal Cord Injuries, Amyotrophic Lateral Sclerosis, Brain Stem Infarctions, Locked in Syndrome, Muscular Dystrophies
Interventions
BrainGate Neural Interface System
Device
Lead sponsor
Leigh R. Hochberg, MD, PhD.
Other
Eligibility
18 Years to 80 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
2
States / cities
Stanford, California • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 2, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects

NCT04269122
View directory record Official record
Conditions
Ornithine Transcarbamylase Deficiency
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years to 55 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Mar 30, 2020 · Synced Oct 4, 2026, 2:37 AM EDT
Completed Phase 1 Interventional

Study to Test How Well Patients With Advanced Solid Tumors Respond to Treatment With the Elimusertib in Combination With Pembrolizumab, to Find the Optimal Dose for Patients, How the Drug is Tolerated and the Way the Body Absorbs, Distributes and Discharges the Drug

NCT04095273
View directory record Official record
Conditions
Advanced Solid Tumors
Interventions
Elimusertib (BAY1895344), Pembrolizumab (Keytruda®)
Drug
Lead sponsor
Bayer
Industry
Eligibility
18 Years and older
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
8
States / cities
Palo Alto, California • New Haven, Connecticut • Baltimore, Maryland + 5 more
Source: ClinicalTrials.gov public record
Updated Apr 2, 2024 · Synced Oct 4, 2026, 2:37 AM EDT
Completed Phase 3 Interventional Results available

Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet

NCT00272792
View directory record Official record
Conditions
Phenylketonurias
Interventions
Sapropterin Dihydrochloride, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
4 Years to 12 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006
U.S. locations
9
States / cities
Los Angeles, California • Oakland, California • Sacramento, California + 6 more
Source: ClinicalTrials.gov public record
Updated Aug 13, 2015 · Synced Oct 4, 2026, 2:37 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)

NCT02316314
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
Cardiac magnetic resonance imaging (CMR), Exercise-stress test, Echocardiogram (ECHO), Cardiac-related blood studies
Procedure
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
12 Years to 50 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 29, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
Completed No phase listed Observational

The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

NCT04628364
View directory record Official record
Conditions
Metachromatic Leukodystrophy
Interventions
Not listed
Lead sponsor
National Organization for Rare Disorders
Other
Eligibility
Not listed
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Danbury, Connecticut
Source: ClinicalTrials.gov public record
Updated Jun 8, 2025 · Synced Oct 4, 2026, 2:37 AM EDT
Recruiting No phase listed Observational

Hepatic Histopathology in Urea Cycle Disorders

NCT04908319
View directory record Official record
Conditions
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria, ASS Deficiency, Hyperargininemia, Carbamyl Phosphate Synthetase Deficiency, NAGS Deficiency
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
Not listed
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
2
States / cities
Washington D.C., District of Columbia • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 20, 2025 · Synced Oct 4, 2026, 2:37 AM EDT
Recruiting Phase 3 Interventional

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

NCT06451757
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Oct 4, 2026, 2:37 AM EDT
No Longer Available No phase listed Expanded access

Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease

NCT00962260
View directory record Official record
Conditions
Gaucher Disease
Interventions
Plant cell expressed recombinant glucocerebrosidase (prGCD)
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
U.S. locations
14
States / cities
La Jolla, California • Aurora, Colorado • Coral Springs, Florida + 11 more
Source: ClinicalTrials.gov public record
Updated Sep 7, 2018 · Synced Oct 4, 2026, 2:37 AM EDT
Terminated Phase 1 Interventional

Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency

NCT05222178
View directory record Official record
Conditions
Phenylketonurias, PAH Deficiency, Phenylketonuria
Interventions
HMI-103
Drug
Lead sponsor
Homology Medicines, Inc
Industry
Eligibility
18 Years to 55 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
2
States / cities
Topeka, Indiana • Lancaster, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 10, 2023 · Synced Oct 4, 2026, 2:37 AM EDT
Recruiting No phase listed Observational

Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease

NCT01665326
View directory record Official record
Conditions
Pompe Disease
Interventions
Observational
Other
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2029
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Oct 4, 2026, 2:37 AM EDT