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ClinicalTrials.gov public records Last synced Oct 23, 2026, 10:19 PM EDT

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Showing 193–216 of 2,421 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolic Abnormalities Clear all
Completed Phase 2 Interventional

Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies

NCT00763932
View directory record Official record
Conditions
Pompe Disease Infantile-Onset, Glycogen Storage Disease Type II
Interventions
Myozyme
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2006
U.S. locations
5
States / cities
Oakland, California • Orange, California • Omaha, Nebraska + 2 more
Source: ClinicalTrials.gov public record
Updated Feb 5, 2014 · Synced Oct 23, 2026, 10:19 PM EDT
Completed Phase 1 Interventional

A Phase I Study of the Safety of Proleukin (Aldesleukin) in Combination With Ganciclovir and Antiretroviral Therapy in HIV Seropositive Patients With Cytomegalovirus (CMV) Retinitis

NCT00002321
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Aldesleukin
Drug
Lead sponsor
Chiron Corporation
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Toledo, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 23, 2026, 10:19 PM EDT
Enrolling by invitation No phase listed Observational

An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID

NCT04049084
View directory record Official record
Conditions
Adenosine Deaminase Deficiency, Severe Combined Immunodeficiency (SCID)
Interventions
autologous ex vivo gene therapy products based on the EFS LV encoding for the human adenosine deaminase (ADA) gene (EFS-ADA LV)
Biological
Lead sponsor
University of California, Los Angeles
Other
Eligibility
Not listed
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2040
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Dec 18, 2025 · Synced Oct 23, 2026, 10:19 PM EDT
Active, not recruiting Phase 3 Interventional Results available

HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy

NCT04153149
View directory record Official record
Conditions
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
Interventions
Vutrisiran, Sterile Normal Saline (0.9% NaCl)
Drug
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
18 Years to 85 Years
Enrollment
655 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
17
States / cities
La Mesa, California • Los Angeles, California • Stanford, California + 13 more
Source: ClinicalTrials.gov public record
Updated Jan 12, 2026 · Synced Oct 23, 2026, 10:19 PM EDT
Terminated No phase listed Observational

Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia

NCT05438485
View directory record Official record
Conditions
Methylmalonic Acidemia, Propionic Acidemia
Interventions
Registry
Other
Lead sponsor
HemoShear Therapeutics
Industry
Eligibility
Not listed
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Dec 27, 2023 · Synced Oct 23, 2026, 10:19 PM 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 17, 2021 · Synced Oct 23, 2026, 10:19 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Purine Metabolism Enzyme SNP to Uric Acid Production

NCT01830725
View directory record Official record
Conditions
Gout, Hyperuricemia
Interventions
Not listed
Lead sponsor
Keesler Air Force Base Medical Center
Federal
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2016
U.S. locations
1
States / cities
Keesler Air Force Base, Mississippi
Source: ClinicalTrials.gov public record
Updated Aug 30, 2016 · Synced Oct 23, 2026, 10:19 PM EDT
Recruiting No phase listed Observational

The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

NCT01109368
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
Not listed
Lead sponsor
The Rogosin Institute
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2030
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 6, 2026 · Synced Oct 23, 2026, 10:19 PM EDT
Terminated No phase listed Observational

Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA

NCT01733615
View directory record Official record
Conditions
Mucopolysaccharidosis Type IVA
Interventions
Not listed
Lead sponsor
Emory University
Other
Eligibility
Not listed
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
Decatur, Georgia
Source: ClinicalTrials.gov public record
Updated Sep 4, 2014 · Synced Oct 23, 2026, 10:19 PM EDT
Completed Phase 1 Interventional

Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia

NCT00317876
View directory record Official record
Conditions
Fanconi Anemia
Interventions
cyclophosphamide, cyclosporine, methotrexate, allogeneic bone marrow transplantation, nonmyeloablative allogeneic hematopoietic stem cell transplantation
Drug · Procedure
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
Not listed
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
2
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Apr 20, 2012 · Synced Oct 23, 2026, 10:19 PM EDT
Completed Phase 3 Interventional

Tigulixostat, Phase 3 Study, Placebo Controlled in Gout Patients

NCT05586958
View directory record Official record
Conditions
Gout, Hyperuricemia, Gout Flare, Tophi
Interventions
Tigulixostat, Placebo
Drug
Lead sponsor
LG Chem
Industry
Eligibility
18 Years to 85 Years
Enrollment
354 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
36
States / cities
Birmingham, Alabama • Covina, California • Clearwater, Florida + 31 more
Source: ClinicalTrials.gov public record
Updated Oct 29, 2025 · Synced Oct 23, 2026, 10:19 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT

NCT05739643
View directory record Official record
Conditions
Krabbe Disease
Interventions
FBX-101
Biological
Lead sponsor
Forge Biologics, Inc
Industry
Eligibility
Up to 18 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
3
States / cities
Orange, California • Ann Arbor, Michigan • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Nov 20, 2025 · Synced Oct 23, 2026, 10:19 PM EDT
Completed Phase 1 Interventional

A Randomized Comparative Pharmacokinetic Study of Oral Ganciclovir After Treatment With Intravenous Ganciclovir for Cytomegalovirus Gastrointestinal Disease in AIDS Patients

NCT00000768
View directory record Official record
Conditions
Colitis, HIV Infections
Interventions
Glutamic acid hydrochloride, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1998
U.S. locations
5
States / cities
Birmingham, Alabama • San Francisco, California • St Louis, Missouri + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 4, 2021 · Synced Oct 23, 2026, 10:19 PM EDT
Completed Phase 3 Interventional Results available

Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)

NCT02526160
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
burosumab, Placebo
Biological · Other
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
134 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Los Angeles, California • San Francisco, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Jun 18, 2024 · Synced Oct 23, 2026, 10:19 PM 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 23, 2026, 10:19 PM EDT
Completed Phase 2 Interventional Results available

Vitamin D for Sickle-cell Respiratory Complications

NCT01443728
View directory record Official record
Conditions
Sickle Cell Disease, Vitamin D Deficiency, Acute Chest Syndrome, Asthma, Respiratory Infections
Interventions
Experimental: Vitamin D3 100,000 IU, Active Comparator: Vitamin D3 12,000 IU
Drug
Lead sponsor
Gary M Brittenham, MD
Other
Eligibility
3 Years to 20 Years
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 9, 2024 · Synced Oct 23, 2026, 10:19 PM EDT
Not listed Phase 2 Interventional

Study of Levotofisopam 50 mg Three Times a Day (TID) Administered for 7 Days on Hyperuricemia and Gout

NCT01519687
View directory record Official record
Conditions
Hyperuricemia, Gout
Interventions
levotofisopam
Drug
Lead sponsor
Pharmos
Industry
Eligibility
18 Years to 65 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 27, 2012 · Synced Oct 23, 2026, 10:19 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Turner Syndrome: Genotype and Phenotype

NCT00006334
View directory record Official record
Conditions
Turner's Syndrome
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
10 Years and older
Enrollment
1,017 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 6, 2017 · Synced Oct 23, 2026, 10:19 PM EDT
Completed No phase listed Observational

Developing the Family Map: Looking at Communal Coping

NCT01633021
View directory record Official record
Conditions
Sickle Cell, Diabetes, Cancer, Cardiovascular Disease, Genetic Screening
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
1,061 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
3
States / cities
Bethesda, Maryland • Cincinnati, Ohio • Lewisburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 23, 2026, 10:19 PM EDT
Terminated No phase listed Observational

Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glycogen Storage Disease Type III

NCT05196165
View directory record Official record
Conditions
Glycogen Storage Disease Type III
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
1 Year and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
3
States / cities
Philadelphia, Pennsylvania • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Sep 28, 2023 · Synced Oct 23, 2026, 10:19 PM EDT
Not listed Phase 1Phase 2 Interventional

CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant

NCT02061800
View directory record Official record
Conditions
Chronic Myeloid Leukemia (CML), Acute Myelogenous Leukemia (AML), Myelodysplastic Syndrome (MDS), Juvenile Myelomonocytic Leukemia (JMML), Acute Lymphoblastic Leukemia (ALL), Lymphoma (Hodgkin's and Non-Hodgkin's)
Interventions
CliniMACS CD34+ Reagent System, Thiotepa, Cyclophosphamide, Alemtuzumab, Tacrolimus, Melphalan, Busulfan, Fludarabine, Methylprednisolone
Device · Drug
Lead sponsor
Diane George
Other
Eligibility
Up to 22 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 4, 2024 · Synced Oct 23, 2026, 10:19 PM EDT
Completed No phase listed Observational

Neurobehavioral Phenotypes in MPS III

NCT01873911
View directory record Official record
Conditions
Sanfilippo Syndrome Type A, Sanfilippo Syndrome Type B, Hurler Syndrome
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
2 Years to 12 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 1, 2019 · Synced Oct 23, 2026, 10:19 PM EDT
Completed Not applicable Interventional

The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism

NCT02200263
View directory record Official record
Conditions
Ocular Albinism (OA), Oculocutaneous Albinism (OCA)
Interventions
Lutein plus Zeaxanthin, Placebo
Dietary Supplement
Lead sponsor
Johns Hopkins University
Other
Eligibility
12 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 28, 2018 · Synced Oct 23, 2026, 10:19 PM EDT
Completed Phase 2 Interventional Results available

Stem Cell Transplant w/Laronidase for Hurler

NCT00176891
View directory record Official record
Conditions
Mucopolysaccharidosis I, Hurler Syndrome
Interventions
Stem Cell Transplant, Laronidase ERT
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 7 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2012
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 11, 2019 · Synced Oct 23, 2026, 10:19 PM EDT