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ClinicalTrials.gov public records Last synced Oct 30, 2026, 2:53 AM EDT

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Showing 745–768 of 1,511 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Recruiting Not applicable Interventional Accepts healthy volunteers

Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria

NCT01659749
View directory record Official record
Conditions
Pregnancy, Phenylketonuria
Interventions
Metabolic camp
Behavioral
Lead sponsor
Emory University
Other
Eligibility
11 Years and older · Female only
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1995 – 2037
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated May 7, 2026 · Synced Oct 30, 2026, 2:53 AM EDT
Recruiting No phase listed Observational

A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)

NCT06192576
View directory record Official record
Conditions
Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
Interventions
Olipudase alfa
Drug
Lead sponsor
Sanofi
Industry
Eligibility
Up to 2 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
6
States / cities
Chicago, Illinois • Cincinnati, Ohio • Columbus, Ohio + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 30, 2026, 2:53 AM EDT
Recruiting No phase listed Observational

Non-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis

NCT06465810
View directory record Official record
Conditions
Transthyretin Amyloidosis, ATTR-CM, ATTRv-PN, ATTR, ATTR-Mixed, hATTR
Interventions
Treatment of transthyretin (ATTR) amyloidosis in observational study setting
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 130 Years
Enrollment
1,850 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2031
U.S. locations
33
States / cities
La Jolla, California • Los Angeles, California • San Francisco, California + 24 more
Source: ClinicalTrials.gov public record
Updated Sep 23, 2026 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

NCT02985710
View directory record Official record
Conditions
Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
Interventions
Sudoscan, Skin biopsy, QSART
Device · Procedure
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
8 Years to 70 Years
Enrollment
102 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 7, 2021 · Synced Oct 30, 2026, 2:53 AM EDT
Terminated No phase listed Observational

Natural History Clinical Study in Adult PKU

NCT04768348
View directory record Official record
Conditions
Phenylketonurias, PKU
Interventions
Not listed
Lead sponsor
Homology Medicines, Inc
Industry
Eligibility
18 Years to 55 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
8
States / cities
Los Angeles, California • Orange, California • Tampa, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 25, 2023 · Synced Oct 30, 2026, 2:53 AM EDT
Completed No phase listed Observational

Prenatal Screening For Smith-Lemli-Opitz Syndrome

NCT00070850
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome, Pregnancy
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Female only
Enrollment
1,800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2005
U.S. locations
1
States / cities
Scarborough, Maine
Source: ClinicalTrials.gov public record
Updated Jul 2, 2007 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Phase 4 Interventional Results available

Effects of Hyperuricemia Reversal on Features of the Metabolic Syndrome

NCT01654276
View directory record Official record
Conditions
Gout
Interventions
Febuxostat
Drug
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
21 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 14, 2023 · Synced Oct 30, 2026, 2:53 AM EDT
Active, not recruiting Phase 3 Interventional Results available

Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia

NCT04490915
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Crinecerfont, Placebo
Drug
Lead sponsor
Neurocrine Biosciences
Industry
Eligibility
18 Years and older
Enrollment
182 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
20
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 17 more
Source: ClinicalTrials.gov public record
Updated May 11, 2026 · Synced Oct 30, 2026, 2:53 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

US Benchmarking Clinical Study

NCT07215715
View directory record Official record
Conditions
HFpEF - Heart Failure With Preserved Ejection Fraction, HFmrEF, ATTR-CM (Transthyretin Amyloid Cardiomyopathy), Left Ventricular Hypertrophy, Cardiac Amyloidosis
Interventions
Not listed
Lead sponsor
eMyosound SAS
Industry
Eligibility
60 Years and older
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2026
U.S. locations
3
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 20, 2025 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Phase 2Phase 3 Interventional Results available

Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency

NCT01371825
View directory record Official record
Conditions
Lysosomal Acid Lipase Deficiency, Wolman Disease
Interventions
Sebelipase alfa (SBC-102)
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
Up to 24 Months
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2018
U.S. locations
1
States / cities
Irvine, California
Source: ClinicalTrials.gov public record
Updated Jan 30, 2019 · Synced Oct 30, 2026, 2:53 AM EDT
Terminated No phase listed Observational

Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population

NCT02338817
View directory record Official record
Conditions
Glycogen Storage Disease
Interventions
Diabetes Sentry
Device
Lead sponsor
University of Florida
Other
Eligibility
Up to 70 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Oct 4, 2016 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Phase 4 Interventional

Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq

NCT06780332
View directory record Official record
Conditions
Phenylketonuria, PKU
Interventions
RDD to Palynziq
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
Chevy Chase, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 1, 2026 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Phase 2 Interventional Results available

A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction

NCT00532844
View directory record Official record
Conditions
Endothelial Dysfunction
Interventions
Sapropterin Dihydrochloride, Sapropterin Dihydrochloride and Vitamin C
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 75 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
1
States / cities
Hackensack, New Jersey
Source: ClinicalTrials.gov public record
Updated May 17, 2021 · Synced Oct 30, 2026, 2:53 AM EDT
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 30, 2026, 2:53 AM EDT
Completed Phase 3 Interventional

A Treatment Protocol for the Use of Intravenous Ganciclovir in AIDS Patients With Immediately Sight-Threatening CMV Retinitis

NCT00000698
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Months and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 30, 2008 · Synced Oct 30, 2026, 2:53 AM EDT
Completed No phase listed Observational

Pompe Gene Therapy- Screening for Eligibility

NCT03285126
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 2, 2019 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Phase 3 Interventional Results available

Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU

NCT00838435
View directory record Official record
Conditions
Phenylketonuria
Interventions
sapropterin dihydrochloride
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Up to 6 Years
Enrollment
95 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2018
U.S. locations
12
States / cities
La Jolla, California • Orange, California • Tampa, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Dec 22, 2020 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen

NCT03934450
View directory record Official record
Conditions
Malaria, Glucose 6 Phosphate Dehydrogenase Deficiency
Interventions
RPQ, SPQ, Primaquine Phosphate, Placebo
Drug
Lead sponsor
University of Mississippi, Oxford
Other
Eligibility
18 Years to 65 Years
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
University, Mississippi
Source: ClinicalTrials.gov public record
Updated May 14, 2019 · Synced Oct 30, 2026, 2:53 AM EDT
Completed 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
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2025
U.S. locations
1
States / cities
West Lafayette, Indiana
Source: ClinicalTrials.gov public record
Updated Oct 20, 2026 · Synced Oct 30, 2026, 2:53 AM EDT
Completed No phase listed Observational

MRI QSM Imaging for Iron Overload

NCT04631718
View directory record Official record
Conditions
Hemochromatosis, Iron Overload
Interventions
Magnetic Resonance Imaging (MRI)-based Quantitative Susceptibility Mapping (QSM)
Radiation
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
5 Years and older
Enrollment
63 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
2
States / cities
Stanford, California • Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated May 9, 2024 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Phase 3 Interventional Results available

Study Utilizing Rilonacept in Gout Exacerbations

NCT00855920
View directory record Official record
Conditions
Acute Gout Flare
Interventions
Rilonacept, Indomethacin, Placebo (for Indomethacin), Placebo (for Rilonacept)
Drug · Other
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
18 Years to 70 Years
Enrollment
225 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
44
States / cities
Birmingham, Alabama • Huntsville, Alabama • Mesa, Arizona + 40 more
Source: ClinicalTrials.gov public record
Updated Apr 28, 2017 · Synced Oct 30, 2026, 2:53 AM EDT
Completed No phase listed Observational

Natural History of Patients With PH3 and a History of Stone Events

NCT04542590
View directory record Official record
Conditions
Primary Hyperoxaluria Type 3
Interventions
Not listed
Lead sponsor
Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Industry
Eligibility
2 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
2
States / cities
Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Dec 2, 2024 · Synced Oct 30, 2026, 2:53 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a

NCT01398774
View directory record Official record
Conditions
Pseudohypoparathyroidism Type 1A, Albright Hereditary Osteodystrophy
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
5 Years to 45 Years
Enrollment
519 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 22, 2018 · Synced Oct 30, 2026, 2:53 AM EDT
Completed Phase 2 Interventional Results available

Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease

NCT02228460
View directory record Official record
Conditions
Fabry Disease
Interventions
GZ/SAR402671
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years to 49 Years · Male only
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
3
States / cities
Atlanta, Georgia • Cincinnati, Ohio • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 30, 2026, 2:53 AM EDT