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Showing 1–24 of 485 matching trials from the live ClinicalTrials.gov search.
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Completed No phase listed Observational Results available

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

NCT00937794
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Neurobehavioral testing, Visual and auditory assessments
Behavioral · Other
Lead sponsor
Shire
Industry
Eligibility
32 Months to 18 Years · Male only
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 13, 2021 · Synced Sep 5, 2026, 9:02 PM EDT
Terminated Phase 2Phase 3 Interventional Results available

T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders

NCT00176826
View directory record Official record
Conditions
Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders, Chediak-Higashi Syndrome, Griscelli Syndrome, Immunologic Diseases, Langerhans-Cell Histiocytosis, Hematologic Diseases
Interventions
Stem Cell Transplant, Myeloablative conditioning regimen
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2015
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 22, 2018 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Phase 2 Interventional

A Study of RO4917523 in Patients With Fragile X Syndrome

NCT01517698
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Placebo, RO4917523 0.5 mg, RO4917523 1.5 mg
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
14 Years to 50 Years
Enrollment
185 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
20
States / cities
Phoenix, Arizona • Long Beach, California • Sacramento, California + 17 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2016 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Phase 1 Interventional

Haploidentical Hematopoietic Stem Cell Transplantation Patients With Wiskott-Aldrich Syndrome

NCT00160355
View directory record Official record
Conditions
Wiskott-Aldrich Syndrome
Interventions
Hematopoietic stem cell transplantation, Miltenyi CliniMACS selection system, Fludarabine, Melphalan, Thiotepa
Procedure · Device · Drug
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Up to 18 Years · Male only
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 25, 2017 · Synced Sep 5, 2026, 9:02 PM EDT
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 Sep 5, 2026, 9:02 PM EDT
Recruiting Phase 1Phase 2 Interventional

Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease (CGD) With an Alemtuzumab, Busulfan and TBI-based Conditioning Regimen Combined With Cytokine (IL-6, +/- IFN-gamma) Antagonists

NCT05463133
View directory record Official record
Conditions
Chronic Granulomatous Disease
Interventions
Sirolimus, Cyclophosphamide, Alemtuzumab, Busulfan, Pheripheral blood stem cells, Emapalumab-Izsg, Tociluzumab, Total Body Irradiation
Drug · Biological
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
4 Years to 65 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2032
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Sep 5, 2026, 9:02 PM EDT
Recruiting Phase 1 Interventional

Study Targeting Myocardial Perfusion and Symptom Relief in Women With SGLT2 Inhibitors (STRONG)

NCT06600178
View directory record Official record
Conditions
Angina Patients With Non-obstructive Coronary Artery Disease, Coronary Microvascular Disease, Coronary Microvascular Dysfunction (CMD)
Interventions
Brezavvy 20Mg Oral Tablet, Placebo
Drug
Lead sponsor
University of Virginia
Other
Eligibility
18 Years and older · Female only
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
Charlottesville, Virginia
Source: ClinicalTrials.gov public record
Updated Oct 28, 2025 · Synced Sep 5, 2026, 9:02 PM EDT
Withdrawn Phase 1 Interventional

Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II

NCT05238324
View directory record Official record
Conditions
Mucopolysaccharidosis II
Interventions
Genetic HMI-203
Biological
Lead sponsor
Homology Medicines, Inc
Industry
Eligibility
18 Years to 45 Years · Male only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
5
States / cities
Oakland, California • New Haven, Connecticut • Hackensack, New Jersey + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 27, 2023 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

The Effects of Interrupting Prolonged Sitting With Intermittent Exercise on Postprandial Lipemia

NCT03856606
View directory record Official record
Conditions
Metabolic Syndrome X, Atherosclerosis, Insulin Resistance, Hyperinsulinism, Glucose Metabolism Disorders, Metabolic Disease, Arteriosclerosis, Arterial Occlusive Diseases, Vascular Diseases, Cardiovascular Diseases
Interventions
Prolonged sitting without exercise, Prolonged sitting with interval exercise
Behavioral
Lead sponsor
University of Texas at Austin
Other
Eligibility
18 Years to 40 Years
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Feb 26, 2019 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Phase 2 Interventional Results available

Randomized Controlled Study of Donepezil in Fragile X Syndrome

NCT01120626
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
donepezil, sugar pill
Drug
Lead sponsor
Stanford University
Other
Eligibility
12 Years to 29 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Mar 16, 2016 · Synced Sep 5, 2026, 9:02 PM EDT
Completed No phase listed Observational

Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)

NCT04959188
View directory record Official record
Conditions
Dyskeratosis Congenita, Telomere Biology Disorders
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 10, 2024 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study to Evaluate the Safety, Tolerability, and Immunogenicity of Hantaan and Puumala Virus DNA Vaccines

NCT01502345
View directory record Official record
Conditions
Hemorrhagic Fever With Renal Syndrome
Interventions
Vaccine/device combination for prevention of HFRS
Biological
Lead sponsor
U.S. Army Medical Research and Development Command
Federal
Eligibility
18 Years to 49 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2013
U.S. locations
1
States / cities
Silver Spring, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 30, 2013 · Synced Sep 5, 2026, 9:02 PM EDT
Available No phase listed Expanded access

Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome

NCT05795361
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Idursulfase-IT
Drug
Lead sponsor
Takeda
Industry
Eligibility
Male only
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
17
States / cities
Phoenix, Arizona • Oakland, California • Wilmington, Delaware + 14 more
Source: ClinicalTrials.gov public record
Updated Apr 12, 2026 · Synced Sep 5, 2026, 9:02 PM EDT
Completed No phase listed Observational

DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

NCT03718910
View directory record Official record
Conditions
DDX3X, Mental Retardation, X-linked 102, Autism Spectrum Disorder
Interventions
Not listed
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
2 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Sep 5, 2026, 9:02 PM EDT
Completed No phase listed Observational

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

NCT00892580
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
STX209
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
8
States / cities
Phoenix, Arizona • Los Angeles, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 30, 2013 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Inflammation and the Metabolic Syndrome in Humans

NCT00954824
View directory record Official record
Conditions
Metabolic Syndrome X
Interventions
Endotoxin (LPS)
Biological
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years to 40 Years
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2003 – 2007
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 29, 2017 · Synced Sep 5, 2026, 9:02 PM EDT
Terminated Phase 2 Interventional

An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome

NCT01013480
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Arbaclofen
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 40 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
9
States / cities
Los Angeles, California • Sacramento, California • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated Dec 19, 2012 · Synced Sep 5, 2026, 9:02 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

COVID-19 Vaccine Responses in PIDD Subjects

NCT05321407
View directory record Official record
Conditions
X-linked Agammaglobulinemia, XLA, Primary Immune Deficiency, CVID, Common Variable Immunodeficiency, Primary Antibody Deficiencies, Secondary Hypogammaglobulinemia
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
6 Months and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2026
U.S. locations
3
States / cities
St. Petersburg, Florida • Chapel Hill, North Carolina • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 2, 2025 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Phase 4 Interventional Results available

A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart

NCT02415400
View directory record Official record
Conditions
Acute Coronary Syndromes
Interventions
Apixaban, vitamin K antagonist, Acetylsalicylic acid, Acetylsalicylic acid placebo
Drug · Other
Lead sponsor
Bristol-Myers Squibb
Industry
Eligibility
18 Years to 95 Years
Enrollment
4,614 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
143
States / cities
Birmingham, Alabama • Phoenix, Arizona • Scottsdale, Arizona + 125 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2020 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Phase 3 Interventional

Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care

NCT00023192
View directory record Official record
Conditions
Chronic Granulomatous Disease
Interventions
T-Cell Depleted & CD34+Select/w/StemCell Enriched Product
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 5, 2026, 9:02 PM 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 Sep 5, 2026, 9:02 PM EDT
Completed Phase 2 Interventional Results available

Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome

NCT01357239
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
12 Years to 17 Years
Enrollment
139 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
8
States / cities
Sacramento, California • Decatur, Georgia • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated May 11, 2015 · Synced Sep 5, 2026, 9:02 PM EDT
Completed Phase 1 Interventional

Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)

NCT01482143
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
3 Years to 11 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
3
States / cities
Sacramento, California • Chicago, Illinois • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Dec 7, 2020 · Synced Sep 5, 2026, 9:02 PM EDT
Recruiting Phase 2 Interventional

Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures

NCT04232085
View directory record Official record
Conditions
Primary Immune Deficiency Disorder, Immune Deficiency Disease, Bone Marrow Failure, Short Telomere Length, Fanconi Anemia, Non Fanconi DNA-DSB Repair Disorder, Hoyeraal-Hreidarsson Syndrome, Dyskeratosis Congenita, Telomere Biology Disorder, Short Telomere Syndrome
Interventions
Alemtuzumab, Fludarabine, Melphalan, Low Dose Total Body Irradiation, Cyclophosphamide, Tacrolimus, Mycophenolate Mofetil
Drug · Radiation
Lead sponsor
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Other
Eligibility
4 Months to 50 Years
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 27, 2025 · Synced Sep 5, 2026, 9:02 PM EDT