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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Inherited Metabolic Disorders (Inborn Errors of Metabolism) Clear all
Completed No phase listed Observational

A Prospective Clinical Study of Phenylketonuria (PKU)

NCT04452513
View directory record Official record
Conditions
Phenylketonurias
Interventions
Not listed
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
14 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
14
States / cities
Aurora, Colorado • Gainesville, Florida • Tampa, Florida + 11 more
Source: ClinicalTrials.gov public record
Updated Mar 13, 2023 · Synced Jul 23, 2026, 2:23 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity

NCT01421888
View directory record Official record
Conditions
Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency, Citrullinemia, Ornithine Carbamoyltransferase Deficiency, Hyperargininemia, N-Acetylglutamate Synthase Deficiency
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 99 Years
Enrollment
4 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 8, 2019 · Synced Jul 23, 2026, 2:23 PM EDT
Not listed Not applicable Interventional

Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

NCT01716728
View directory record Official record
Conditions
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Interventions
enzyme analysis
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 12, 2013 · Synced Jul 23, 2026, 2:23 PM EDT
Recruiting No phase listed Observational

A Prospective Sub-Study of the Global Hypophosphatasia Registry

NCT05234567
View directory record Official record
Conditions
Hypophosphatasia
Interventions
Asfotase Alfa
Biological
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
12
States / cities
Hartford, Connecticut • Chicago, Illinois • Boston, Massachusetts + 9 more
Source: ClinicalTrials.gov public record
Updated Feb 8, 2026 · Synced Jul 23, 2026, 2:23 PM EDT
Completed Phase 2 Interventional Results available

A Study of ALN-PCSSC in Participants With Homozygous Familial Hypercholesterolemia (HoFH)

NCT02963311
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
ALN-PCSSC, Standard of Care
Drug
Lead sponsor
The Medicines Company
Industry
Eligibility
12 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated May 17, 2020 · Synced Jul 23, 2026, 2:23 PM EDT
Completed No phase listed Observational

A Study to Determine Eligibility for CAH-301 (A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH) [NCT04783181])

NCT05101902
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Pre-Screening
Other
Lead sponsor
Adrenas Therapeutics Inc
Industry
Eligibility
18 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Sep 18, 2024 · Synced Jul 23, 2026, 2:23 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

PET Scans in Normal Volunteers and Patients With Fabry Disease

NCT00005111
View directory record Official record
Conditions
Fabry Disease, Healthy
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Male only
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jul 23, 2026, 2:23 PM EDT
Recruiting No phase listed Observational

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

NCT06305234
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2033
U.S. locations
11
States / cities
Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced Jul 23, 2026, 2:23 PM EDT
Completed Phase 4 Interventional Results available

A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI

NCT00299000
View directory record Official record
Conditions
Mucopolysaccharidosis VI, Maroteaux-Lamy Syndrome
Interventions
Naglazyme
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Up to 1 Year
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2009
U.S. locations
2
States / cities
Los Angeles, California • Oakland, California
Source: ClinicalTrials.gov public record
Updated Jul 21, 2011 · Synced Jul 23, 2026, 2:23 PM EDT
Not listed Phase 2 Interventional

Efficacy and Safety of Pirfenidone Treatment in HPS-ILD

NCT04193592
View directory record Official record
Conditions
Hermansky Pudlak Syndrome, Interstitial Lung Disease
Interventions
Pirfenidone
Drug
Lead sponsor
Jesse Roman
Other
Eligibility
18 Years to 75 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 9, 2019 · Synced Jul 23, 2026, 2:23 PM EDT
Completed Phase 2 Interventional Results available

Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders

NCT00551200
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
HPN-100, BUPHENYL®
Drug
Lead sponsor
Amgen
Industry
Eligibility
18 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
2
States / cities
Minneapolis, Minnesota • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 9, 2024 · Synced Jul 23, 2026, 2:23 PM EDT
Terminated Phase 4 Interventional Results available

Study of the Effects of Fabrazyme Treatment on Lactation and Infants

NCT00230607
View directory record Official record
Conditions
Fabry Disease, Alpha Galactosidase A Deficiency
Interventions
agalsidase beta
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2024
U.S. locations
3
States / cities
Decatur, Georgia • Fairfax, Virginia • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 9, 2024 · Synced Jul 23, 2026, 2:23 PM EDT
Completed Phase 2 Interventional Results available

Pharmacokinetic and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP)

NCT02797821
View directory record Official record
Conditions
Hypophosphatasia
Interventions
Asfotase alfa
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
3
States / cities
St Louis, Missouri • Durham, North Carolina • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 16, 2019 · Synced Jul 23, 2026, 2:23 PM EDT
Recruiting Phase 1Phase 2 Interventional

Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease

NCT06270316
View directory record Official record
Conditions
Fabry Disease
Interventions
AMT-191
Drug
Lead sponsor
UniQure Biopharma B.V.
Industry
Eligibility
18 Years to 50 Years · Male only
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2031
U.S. locations
8
States / cities
Birmingham, Alabama • Atlanta, Georgia • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 22, 2025 · Synced Jul 23, 2026, 2:23 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)

NCT04093349
View directory record Official record
Conditions
Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, Glycogen Storage Disease Type II, LOPD, Lysosomal Storage Diseases, Acid Maltase Deficiency
Interventions
SPK-3006
Genetic
Lead sponsor
Spark Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2032
U.S. locations
10
States / cities
Phoenix, Arizona • Orange, California • Atlanta, Georgia + 7 more
Source: ClinicalTrials.gov public record
Updated Nov 26, 2024 · Synced Jul 23, 2026, 2:23 PM EDT
Recruiting No phase listed Observational

The International Registry for Leigh Syndrome

NCT03137355
View directory record Official record
Conditions
Leigh Syndrome, Leigh Disease, Leigh's Necrotizing Encephalopathy, Subacute Necrotizing Encephalomyopathy, Subacute Necrotizing Encephalomyelopathy
Interventions
Not listed
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
0 Days to 100 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2030
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Nov 30, 2023 · Synced Jul 23, 2026, 2:23 PM EDT
Completed No phase listed Observational

Iron Overload in Stem Cell Transplant Recipients

NCT00806715
View directory record Official record
Conditions
Iron Overload
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
5 Years and older
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2010
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 25, 2018 · Synced Jul 23, 2026, 2:23 PM EDT
Completed No phase listed Observational

Adrenal Hyperplasia Among Young People With PCOS

NCT01313455
View directory record Official record
Conditions
Adrenal Hyperplasia, Polycystic Ovarian Syndrome, Oligomenorrhea, Obesity, Hyperandrogenism
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
16 Years to 29 Years · Female only
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 30, 2019 · Synced Jul 23, 2026, 2:23 PM EDT
Terminated No phase listed Observational

Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)

NCT02204904
View directory record Official record
Conditions
X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Interventions
Allo-HSCT
Genetic
Lead sponsor
Genetix Biotherapeutics Inc.
Industry
Eligibility
Up to 17 Years · Male only
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
6
States / cities
Los Angeles, California • Palo Alto, California • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated May 20, 2020 · Synced Jul 23, 2026, 2:23 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients

NCT02794649
View directory record Official record
Conditions
Oxalate, Primary Hyperoxaluria, Microbiome
Interventions
Not listed
Lead sponsor
VA New York Harbor Healthcare System
Federal
Eligibility
18 Years to 80 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2018
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 25, 2017 · Synced Jul 23, 2026, 2:23 PM EDT
Recruiting Phase 3 Interventional

Efficacy and Safety of Mibavademab in Adult and Pediatric Patients With Generalized Lipodystrophy

NCT07220785
View directory record Official record
Conditions
Generalized Lipodystrophy
Interventions
Mibavademab, Placebo
Drug
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
2 Years and older
Enrollment
28 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
2
States / cities
Ann Arbor, Michigan • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Jul 23, 2026, 2:23 PM EDT
Completed Phase 1Phase 2 Interventional

An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I (MPS I)

NCT04453085
View directory record Official record
Conditions
Mucopolysaccharidosis I
Interventions
JR-171
Drug
Lead sponsor
JCR Pharmaceuticals Co., Ltd.
Industry
Eligibility
Not listed
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Oakland, California
Source: ClinicalTrials.gov public record
Updated Aug 27, 2025 · Synced Jul 23, 2026, 2:23 PM EDT
Active, not recruiting Phase 2 Interventional

Treatment of Hemochromatosis

NCT00007150
View directory record Official record
Conditions
Hemochromatosis
Interventions
Phlebotomy
Procedure
Lead sponsor
National Institutes of Health Clinical Center (CC)
NIH
Eligibility
18 Years to 100 Years
Enrollment
622 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2026
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Jul 23, 2026, 2:23 PM EDT
Recruiting Not applicable Interventional

The ORIGIN-FH Study

NCT07470723
View directory record Official record
Conditions
Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia
Interventions
Screening for FH
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Mar 12, 2026 · Synced Jul 23, 2026, 2:23 PM EDT