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ClinicalTrials.gov public records Last synced Oct 17, 2026, 4:04 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 913–936 of 1,605 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Clear all
Completed Phase 2Phase 3 Interventional

Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

NCT00125879
View directory record Official record
Conditions
Glycogen Storage Disease Type II
Interventions
Myozyme
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2006
U.S. locations
6
States / cities
Birmingham, Alabama • Gainesville, Florida • Miami, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 6, 2014 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Phase 3 Interventional Results available

Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease

NCT04049760
View directory record Official record
Conditions
Fabry Disease
Interventions
migalastat HCl 150 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
12 Years to 17 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
5
States / cities
Tampa, Florida • Atlanta, Georgia • Minneapolis, Minnesota + 2 more
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Oct 17, 2026, 4:04 PM EDT
Recruiting No phase listed Observational

A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel

NCT06224413
View directory record Official record
Conditions
Cerebral Adrenoleukodystrophy (CALD)
Interventions
No Intervention
Other
Lead sponsor
Genetix Biotherapeutics Inc.
Industry
Eligibility
Male only
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2047
U.S. locations
3
States / cities
Boston, Massachusetts • Philadelphia, Pennsylvania • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jul 2, 2025 · Synced Oct 17, 2026, 4:04 PM EDT
Recruiting Phase 1Phase 2 Interventional

A Trial of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia

NCT05669950
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Lu AG13909
Drug
Lead sponsor
H. Lundbeck A/S
Industry
Eligibility
18 Years to 70 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Mar 9, 2026 · Synced Oct 17, 2026, 4:04 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Intervention and Outcomes in Duarte Galactosemia

NCT02519504
View directory record Official record
Conditions
Duarte Galactosemia
Interventions
Not listed
Lead sponsor
Emory University
Other
Eligibility
6 Years to 12 Years
Enrollment
566 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2017
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Sep 19, 2019 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Bioavailability Study of Desloratadine 5 mg Tablet of Dr. Reddy's Under Fed Conditions

NCT01314352
View directory record Official record
Conditions
Fed
Interventions
Desloratadine
Drug
Lead sponsor
Dr. Reddy's Laboratories Limited
Industry
Eligibility
18 Years to 45 Years
Enrollment
28 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2006
U.S. locations
1
States / cities
Fort Myers, Florida
Source: ClinicalTrials.gov public record
Updated Jun 8, 2011 · Synced Oct 17, 2026, 4:04 PM EDT
Recruiting Phase 1 Interventional

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

NCT04532047
View directory record Official record
Conditions
MPS I, MPS II, MPS IVA, MPS VI, Mps VII, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Pompe Disease Infantile-Onset, Wolman Disease
Interventions
Aldurazyme (laronidase)
Drug
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2032
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Mar 17, 2026 · Synced Oct 17, 2026, 4:04 PM EDT
Recruiting No phase listed Observational

Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

NCT04948658
View directory record Official record
Conditions
Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia, Variations in Sex Characteristics, Differences in Sex Development
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 35 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 17, 2026, 4:04 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Lipodystrophy Connect Patient Registry

NCT02577952
View directory record Official record
Conditions
Lipodystrophy
Interventions
Not listed
Lead sponsor
PatientCrossroads
Industry
Eligibility
Not listed
Enrollment
257 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 22, 2019 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Phase 4 Interventional Results available

Immunogenicity of Metreleptin in Patients With Generalized Lipodystrophy

NCT04026178
View directory record Official record
Conditions
Generalized Lipodystrophy
Interventions
Metreleptin
Drug
Lead sponsor
Aegerion Pharmaceuticals, Inc.
Industry
Eligibility
1 Year and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
8
States / cities
Birmingham, Alabama • New Orleans, Louisiana • Ann Arbor, Michigan + 4 more
Source: ClinicalTrials.gov public record
Updated Nov 26, 2025 · Synced Oct 17, 2026, 4:04 PM EDT
Recruiting No phase listed Observational

Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

NCT02089789
View directory record Official record
Conditions
Congenital Disorders of Glycosylation
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 80 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 17, 2026, 4:04 PM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Comparing the Adaptation of Commercial Milk and A2 Milk in Lactose Maldigesters

NCT05669274
View directory record Official record
Conditions
Lactose Intolerance
Interventions
Milk containing A1 and A2 beta-casein, Milk containing only A2 beta-casein
Other
Lead sponsor
Purdue University
Other
Eligibility
18 Years to 65 Years
Enrollment
35 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2025
U.S. locations
1
States / cities
West Lafayette, Indiana
Source: ClinicalTrials.gov public record
Updated Mar 30, 2023 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers Results available

Study of ALXN1840 on the Metabolism of a CYP2B6 Substrate in Healthy Participants

NCT04526210
View directory record Official record
Conditions
Wilson Disease
Interventions
ALXN1840, Bupropion Hydrochloride
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 50 Years
Enrollment
54 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Aug 31, 2023 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Not applicable Interventional

Lingual Muscle Training in Late-Onset Pompe Disease (LOPD)

NCT03255213
View directory record Official record
Conditions
Glycogen Storage Disease
Interventions
Lingual Muscle Training
Other
Lead sponsor
Duke University
Other
Eligibility
12 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 28, 2021 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Evaluation of GIMate Handheld Hydrogen Breath Monitor for Diagnosis of Lactose Malabsorption

NCT04754724
View directory record Official record
Conditions
Lactose Intolerance
Interventions
GIMate, H2 Check
Diagnostic Test
Lead sponsor
Vivante Health
Industry
Eligibility
18 Years to 55 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 28, 2021 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Phase 1 Interventional

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease

NCT01747135
View directory record Official record
Conditions
Niemann-Pick Disease, Type C1
Interventions
VTS-270
Drug
Lead sponsor
Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company
Industry
Eligibility
2 Years to 25 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 23, 2021 · Synced Oct 17, 2026, 4:04 PM EDT
Completed No phase listed Observational

Establishment of Biomarkers for Fabry Disease

NCT01165697
View directory record Official record
Conditions
Fabry Disease
Interventions
Fluorescein angiography
Other
Lead sponsor
Ohio State University
Other
Eligibility
18 Years and older
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 13, 2017 · Synced Oct 17, 2026, 4:04 PM EDT
Completed No phase listed Observational

Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU

NCT05356377
View directory record Official record
Conditions
Phenylketonurias
Interventions
Pegvaliase-Pqpz
Drug
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
18 Years to 55 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
2
States / cities
Boston, Massachusetts • Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Dec 29, 2025 · Synced Oct 17, 2026, 4:04 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Intracardiac Flow Assessment in Cardiac Amyloidosis

NCT05379101
View directory record Official record
Conditions
Amyloidosis Cardiac, Healthy Adults
Interventions
Cardiac magnetic resonance image (CMR), Transthoracic Echocardiogram (TTE), Six-minute Walk Test
Diagnostic Test
Lead sponsor
Mayo Clinic
Other
Eligibility
40 Years and older
Enrollment
81 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2026
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Phase 4 Interventional

Initiation of Allopurinol at First Medical Contact for Acute Attacks of Gout

NCT01310673
View directory record Official record
Conditions
Gout, Gout Acute
Interventions
Allopurinol, Placebo
Drug
Lead sponsor
White River Junction Veterans Affairs Medical Center
Federal
Eligibility
18 Years and older · Male only
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2009
U.S. locations
1
States / cities
White River Junction, Vermont
Source: ClinicalTrials.gov public record
Updated Mar 8, 2011 · Synced Oct 17, 2026, 4:04 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)

NCT00069641
View directory record Official record
Conditions
Mucopolysaccharidosis II
Interventions
iduronate-2-sulfatase enzyme replacement therapy, Placebo
Biological
Lead sponsor
Shire
Industry
Eligibility
5 Years to 25 Years · Male only
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2005
U.S. locations
4
States / cities
Oakland, California • St Louis, Missouri • Chapel Hill, North Carolina + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2021 · Synced Oct 17, 2026, 4:04 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 17, 2026, 4:04 PM EDT
Completed Phase 2Phase 3 Interventional

Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients

NCT00638703
View directory record Official record
Conditions
Primary Hyperoxaluria
Interventions
Oxalobacter formigenes, Placebo
Biological · Drug
Lead sponsor
OxThera
Industry
Eligibility
5 Years and older
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated May 15, 2013 · Synced Oct 17, 2026, 4:04 PM EDT
Recruiting Phase 1 Interventional

A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease

NCT07354724
View directory record Official record
Conditions
Late-onset Pompe Disease
Interventions
DNL952
Drug
Lead sponsor
Denali Therapeutics Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
4
States / cities
Irvine, California • St Louis, Missouri • Durham, North Carolina + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 17, 2026 · Synced Oct 17, 2026, 4:04 PM EDT