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Showing 1–24 of 483 matching trials from the live ClinicalTrials.gov search.
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Completed Phase 2 Interventional Results available

Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)

NCT01998633
View directory record Official record
Conditions
Hemophagocytic Lymphohistiocytosis, Chronic Active Epstein-Barr Virus Infection, Chronic Granulomatous Disease, HIGM-1, Leukocyte Adhesion Deficiency, IPEX
Interventions
Hematopoietic Stem Cell Transplant
Biological
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
4 Months to 45 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
19
States / cities
Birmingham, Alabama • Washington D.C., District of Columbia • Atlanta, Georgia + 16 more
Source: ClinicalTrials.gov public record
Updated Dec 7, 2022 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Not applicable Interventional

Effects of TA-65, a Telomerase Activator on Metabolic Syndrome

NCT02531334
View directory record Official record
Conditions
Metabolic Syndrome X
Interventions
TA-65
Dietary Supplement
Lead sponsor
University of Connecticut
Other
Eligibility
32 Years to 70 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Storrs, Connecticut
Source: ClinicalTrials.gov public record
Updated Oct 9, 2018 · Synced Jul 21, 2026, 9:58 AM 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, 9:58 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 21, 2026, 9:58 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 21, 2026, 9:58 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 21, 2026, 9:58 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 21, 2026, 9:58 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 21, 2026, 9:58 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 21, 2026, 9:58 AM EDT
Active, not recruiting Phase 3 Interventional

A Clinical Study to Evaluate the Use of a Cryopreserved Formulation of OTL-103 in Subjects With Wiskott-Aldrich Syndrome

NCT03837483
View directory record Official record
Conditions
Wiskott-Aldrich Syndrome
Interventions
OTL-103
Genetic
Lead sponsor
Fondazione Telethon
Other
Eligibility
Up to 65 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Sep 28, 2025 · Synced Jul 21, 2026, 9:58 AM EDT
Withdrawn Phase 2Phase 3 Interventional

Trial of Kuvan in Lesch-Nyhan Disease

NCT00935753
View directory record Official record
Conditions
Behavioral Manifestations of Lesch-Nyhan Disease
Interventions
sapropterin
Drug
Lead sponsor
University of California, San Diego
Other
Eligibility
4 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Aug 1, 2019 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 2Phase 3 Interventional

To Study the Efficacy & Safety of Oral NA-921 (Bionetide) in Girls and Women with Rett Syndrome

NCT06849973
View directory record Official record
Conditions
Rett Syndrome
Interventions
Drug: Bionetide, Placebo
Drug
Lead sponsor
Biomed Industries, Inc.
Industry
Eligibility
5 Years to 20 Years · Female only
Enrollment
187 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
12
States / cities
La Jolla, California • Los Angeles, California • Sacramento, California + 9 more
Source: ClinicalTrials.gov public record
Updated Feb 26, 2025 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Effect of Dietary Flavonoids on Intestinal Microbiota, Intestinal Inflammation and Metabolic Syndrome

NCT02728570
View directory record Official record
Conditions
Metabolic Syndrome X, Inflammation
Interventions
High Dietary Flavonoids, Low Dietary Flavonoids
Other
Lead sponsor
Utah State University
Other
Eligibility
18 Years to 70 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2015
U.S. locations
1
States / cities
Logan, Utah
Source: ClinicalTrials.gov public record
Updated Apr 14, 2016 · Synced Jul 21, 2026, 9:58 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)

NCT01433354
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
12 Years to 18 Years
Enrollment
119 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
7
States / cities
Sacramento, California • Decatur, Georgia • Chicago, Illinois + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2016 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study to Learn More About How Much of the Study Treatment Elinzanetant (or BAY3427080) Gets Absorbed, How Safe it is and How it Affects the Body in Healthy Female and Male Participants

NCT05351892
View directory record Official record
Conditions
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes, Healthy Volunteers
Interventions
Elinzanetant (BAY3427080)
Drug
Lead sponsor
Bayer
Industry
Eligibility
18 Years to 45 Years
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Jul 18, 2022 · Synced Jul 21, 2026, 9:58 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Rare Diseases Clinical Research Network: Neurophysiological Correlates

NCT03077308
View directory record Official record
Conditions
Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome, Rett-related Disorders
Interventions
Auditory and Visual Event-related Potentials and EEG
Procedure
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
2 Years to 65 Years
Enrollment
185 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2021
U.S. locations
5
States / cities
Denver, Colorado • Boston, Massachusetts • Cincinnati, Ohio + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 4, 2021 · Synced Jul 21, 2026, 9:58 AM EDT
Active, not recruiting No phase listed Observational

Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX

NCT04628871
View directory record Official record
Conditions
Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II
Interventions
SB-318, SB-913, SB-FIX
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
5
States / cities
Oakland, California • Chicago, Illinois • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated May 2, 2024 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 1 Interventional

BMS-247550 in Treating Patients With Advanced Cancers

NCT00006221
View directory record Official record
Conditions
Lymphoma, Small Intestine Cancer, Unspecified Adult Solid Tumor, Protocol Specific
Interventions
ixabepilone
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
3
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Feb 10, 2013 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

THC Crossover Study

NCT04429568
View directory record Official record
Conditions
THC, Cannabis, Cannabis Smoking, Cannabis Use, Unspecified, Cigarette Smoking, Tobacco Use, Nicotine Dependence, Nicotine Withdrawal, Cardiovascular Risk Factor
Interventions
Smoked Cannabis, Vaped Cannabis, Tobacco Cigarette
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
21 Years and older
Enrollment
14 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
2
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jun 30, 2024 · Synced Jul 21, 2026, 9:58 AM EDT
Terminated No phase listed Observational

Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)

NCT02095015
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Mar 16, 2021 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 2 Interventional Results available

Study to Assess the Safety and Efficacy of BOL-303242-X Ophthalmic Suspension in Dry Eye Syndrome

NCT01163643
View directory record Official record
Conditions
Dry Eye Syndrome
Interventions
0.3% BOL-303242-X ophthalmic suspension, 2% BOL-303242-X ophthalmic suspension, Placebo Comparator: Vehicle, 1% BOL-303242-X ophthalmic suspension, 2% BOL-303242-X ophthalmic suspension AM, 2% BOL-303242-X ophthalmic suspension PM
Drug
Lead sponsor
Bausch & Lomb Incorporated
Industry
Eligibility
18 Years and older
Enrollment
356 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Rochester, New York
Source: ClinicalTrials.gov public record
Updated Sep 24, 2020 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 2 Interventional

A Safety Study of NNZ-2566 in Patients With Rett Syndrome

NCT01703533
View directory record Official record
Conditions
Rett Syndrome
Interventions
NNZ-2566, Placebo
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
16 Years to 45 Years · Female only
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
3
States / cities
Birmingham, Alabama • Saint Paul, Minnesota • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 4, 2018 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 2 Interventional Results available

Ganaxolone Treatment in Children With Fragile X Syndrome

NCT01725152
View directory record Official record
Conditions
Fragile x Syndrome
Interventions
Ganaxolone, Placebo
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
6 Years to 17 Years
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Apr 9, 2023 · Synced Jul 21, 2026, 9:58 AM EDT
Terminated Phase 3 Interventional Results available

Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome

NCT03848832
View directory record Official record
Conditions
Rett Syndrome, RTT
Interventions
GWP42003-P, Placebo
Drug
Lead sponsor
Jazz Pharmaceuticals
Industry
Eligibility
2 Years to 18 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
14
States / cities
Birmingham, Alabama • San Diego, California • Aurora, Colorado + 11 more
Source: ClinicalTrials.gov public record
Updated Sep 1, 2022 · Synced Jul 21, 2026, 9:58 AM EDT