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ClinicalTrials.gov public records Last synced Oct 22, 2026, 2:35 PM EDT

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Showing 1–24 of 2,411 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inherited Metabolic Disorders Clear all
Completed Phase 3 Interventional Results available

Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU

NCT01889862
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
BMN165 20mg/day, BMN165 40mg/day, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 70 Years
Enrollment
215 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2019
U.S. locations
29
States / cities
La Jolla, California • Oakland, California • Aurora, Colorado + 26 more
Source: ClinicalTrials.gov public record
Updated May 21, 2021 · Synced Oct 22, 2026, 2:35 PM EDT
Not listed No phase listed Observational

Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy

NCT02994303
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
University of Washington
Other
Eligibility
1 Day to 90 Years
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
3
States / cities
Decatur, Georgia • Minneapolis, Minnesota • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 28, 2017 · Synced Oct 22, 2026, 2:35 PM EDT
Completed No phase listed Observational

Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))

NCT01880983
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP)
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
7 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2020
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Jun 24, 2021 · Synced Oct 22, 2026, 2:35 PM EDT
Recruiting Phase 1 Interventional

A Safety and Tolerability Trial Evaluating CTX310 in Participants With Refractory Dyslipidemias

NCT07491172
View directory record Official record
Conditions
Cardiovascular, Metabolic Disease, Dyslipidemias, Lipid Disorder, Hypertriglyceridemia, Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Severe Hypertriglyceridemia (sHTG), Mixed Hyperlipemia, Hypercholesterolaemia
Interventions
CTX310
Drug
Lead sponsor
CRISPR Therapeutics AG
Industry
Eligibility
18 Years to 75 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
8
States / cities
Hialeah, Florida • Jacksonville, Florida • Orlando, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated Sep 18, 2026 · Synced Oct 22, 2026, 2:35 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Role of Acetaldehyde in the Development of Oral Cancer

NCT05973656
View directory record Official record
Conditions
Alcohol-Related Carcinoma, Fanconi Anemia, Oral Cavity Carcinoma
Interventions
Alcohol, Biospecimen Collection, Breath Test
Drug · Procedure
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
18 Years to 45 Years
Enrollment
170 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Phase 4 Interventional

Comparison of Absorption of Vitamin D in Cystic Fibrosis

NCT01880346
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Vitamin D Powder, Vitamin D Oil
Dietary Supplement
Lead sponsor
Emory University
Other
Eligibility
18 Years to 59 Years
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Nov 20, 2015 · Synced Oct 22, 2026, 2:35 PM EDT
Active, not recruiting Phase 2 Interventional

Theophylline Treatment for Pseudohypoparathyroidism

NCT03029429
View directory record Official record
Conditions
Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy
Interventions
Theophylline, Placebos
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
13 Years to 99 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 2, 2026 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Phase 3 Interventional Results available

Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI

NCT00067470
View directory record Official record
Conditions
Mucopolysaccharidosis VI
Interventions
Placebo, N-acetylgalactosamine 4-sulfatase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
7 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2004
U.S. locations
1
States / cities
Novato, California
Source: ClinicalTrials.gov public record
Updated Dec 24, 2009 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Phase 2Phase 3 Interventional

MARS - Monitored Atherosclerosis Regression Study

NCT00116870
View directory record Official record
Conditions
Atherosclerosis, Coronary Artery Disease
Interventions
lovastatin
Drug
Lead sponsor
Merck Sharp & Dohme LLC
Industry
Eligibility
21 Years to 67 Years
Enrollment
270 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1985 – 1992
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Dec 11, 2009 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Phase 2 Interventional

Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease

NCT00004488
View directory record Official record
Conditions
Gaucher's Disease, Osteopenia
Interventions
alendronate sodium, calcium carbonate, cholecalciferol
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 50 Years
Enrollment
82 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2002
U.S. locations
2
States / cities
Cincinnati, Ohio • Dayton, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Phase 1Phase 2 Interventional Results available

A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients

NCT03423186
View directory record Official record
Conditions
Sanfilippo Syndrome Type A (MPS IIIA)
Interventions
SOBI003
Drug
Lead sponsor
Swedish Orphan Biovitrum
Industry
Eligibility
12 Months to 72 Months
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
2
States / cities
Oakland, California • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Nov 19, 2021 · Synced Oct 22, 2026, 2:35 PM EDT
Not listed Not applicable Interventional

Identification of Undiagnosed Gaucher Disease

NCT01716741
View directory record Official record
Conditions
Gaucher Disease
Interventions
Enzyme analysis
Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 30, 2012 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Effects of Androgen Administration on Inflammation in Normal Women

NCT01753037
View directory record Official record
Conditions
Hyperandrogenism
Interventions
Dehydroepiandrosterone (DHEA), Placebo
Dietary Supplement · Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years to 40 Years · Female only
Enrollment
25 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2010
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 18, 2013 · Synced Oct 22, 2026, 2:35 PM EDT
Not listed No phase listed Observational

Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation

NCT04516083
View directory record Official record
Conditions
Cancer Gene Mutation, Lynch Syndrome, Endometrial Cancer, Somatic Mutation
Interventions
Mismatch repair instability somatic and germline testing
Diagnostic Test
Lead sponsor
RWJ Barnabas Health at Jersey City Medical Center
Other
Eligibility
Female only
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Jersey City, New Jersey
Source: ClinicalTrials.gov public record
Updated Aug 18, 2020 · Synced Oct 22, 2026, 2:35 PM EDT
Terminated Phase 3 Interventional Results available

Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study

NCT03563053
View directory record Official record
Conditions
Ataxia Telangiectasia, Genetic Syndrome
Interventions
EryDex System
Combination Product
Lead sponsor
Quince Therapeutics S.p.A.
Industry
Eligibility
6 Years and older
Enrollment
104 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
4
States / cities
Los Angeles, California • Baltimore, Maryland • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 8, 2024 · Synced Oct 22, 2026, 2:35 PM EDT
Withdrawn No phase listed Observational

Prospective Identification of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging

NCT02462213
View directory record Official record
Conditions
Amyloidosis, Paraproteinemias, Cardiomyopathies
Interventions
Amyloidosis, Cardiac Amyloidosis
Other
Lead sponsor
University of Cincinnati
Other
Eligibility
18 Years to 85 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 26, 2017 · Synced Oct 22, 2026, 2:35 PM EDT
Terminated No phase listed Observational

Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia

NCT05008874
View directory record Official record
Conditions
AMN, AMN Gene Mutation, X-ALD
Interventions
Natural History Observation
Other
Lead sponsor
SwanBio Therapeutics, Inc.
Industry
Eligibility
18 Years and older · Male only
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
4
States / cities
Stanford, California • Boston, Massachusetts • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 30, 2025 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Phase 2 Interventional

Study of the Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients Previously Intolerant to Statins Due to Statin-associated Myalgia (SAM)

NCT01279590
View directory record Official record
Conditions
Myalgia, Hypercholesterolemia, Hyperlipidemia
Interventions
PPD10558, Atorvastatin, Placebo
Drug
Lead sponsor
Furiex Pharmaceuticals, Inc
Industry
Eligibility
40 Years and older
Enrollment
282 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011
U.S. locations
67
States / cities
Anniston, Alabama • Phoenix, Arizona • Huntington Park, California + 60 more
Source: ClinicalTrials.gov public record
Updated Dec 22, 2011 · Synced Oct 22, 2026, 2:35 PM EDT
Not yet recruiting Phase 2 Interventional

GV101 for Friedreich's Ataxia (FA) Treatment

NCT07870590
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
GV101, Placebo
Drug
Lead sponsor
Graviton Bioscience Corporation
Industry
Eligibility
16 Years to 40 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Eatontown, New Jersey
Source: ClinicalTrials.gov public record
Updated Oct 15, 2026 · Synced Oct 22, 2026, 2:35 PM EDT
Active, not recruiting Not applicable Interventional

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

NCT01652092
View directory record Official record
Conditions
SCID, Omenn's Syndrome, Reticular Dysgenesis, Wiskott-Aldrich Syndrome, Bare Lymphocyte Syndrome, Common Variable Immunodeficiency, Chronic Granulomatous Disease, CD40 Ligand Deficiency, Hyper IgM Syndrome, X-linked Lymphoproliferative Disease, Hemophagocytic Lymphohistiocytosis, Griscelli Syndrome, Chediak-Higashi Syndrome, Langerhan's Cell Histiocytosis
Interventions
Alemtuzumab 0.3 mg, Cyclophosphamide, Busulfan, Stem Cell Transplantation, Fludarabine phosphate 40 mg, Melphalan, Alemtuzumab 0.2 mg, Fludarabine phosphate 30 mg, MESNA
Drug · Biological
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 50 Years
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2026
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 17, 2026 · Synced Oct 22, 2026, 2:35 PM EDT
Recruiting Phase 1Phase 2 Interventional

Autologous Gene Therapy for Artemis-Deficient SCID

NCT03538899
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
AProArt-CD34, CliniMACS® CD34 Reagent System cell sorter device, Busulfan
Drug · Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
2 Months and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2038
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Feb 13, 2026 · Synced Oct 22, 2026, 2:35 PM EDT
Completed No phase listed Observational

Genzyme Osteopenia/Osteoporosis Study

NCT02785744
View directory record Official record
Conditions
Gaucher Disease
Interventions
Gaucher disease DNA mutation analysis
Other
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years and older
Enrollment
76 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 23, 2021 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers Results available

Food Effect Study of Febuxostat XR in Healthy Participants

NCT02374164
View directory record Official record
Conditions
Gout
Interventions
Febuxostat XR
Drug
Lead sponsor
Takeda
Industry
Eligibility
18 Years to 55 Years
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Apr 27, 2016 · Synced Oct 22, 2026, 2:35 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency

NCT01307098
View directory record Official record
Conditions
Cholesterol Ester Storage Disease(CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency
Interventions
Sebelipase alfa 0.35 mg/kg, Sebelipase alfa 1 mg/kg, Sebelipase alfa 3 mg/kg
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
3
States / cities
Stanford, California • New York, New York • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 11, 2018 · Synced Oct 22, 2026, 2:35 PM EDT