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ClinicalTrials.gov public records Last synced Oct 22, 2026, 9:38 PM EDT

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

Showing 361–384 of 1,510 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Completed No phase listed Observational Accepts healthy volunteers

Fabry Screening Study

NCT01019629
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Baylor Research Institute
Other
Eligibility
18 Years and older
Enrollment
2,724 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2017
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Feb 13, 2018 · Synced Oct 22, 2026, 9:38 PM EDT
Active, not recruiting Phase 3 Interventional Results available

Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Participants With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)

NCT04806451
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Crinecerfont, Placebo
Drug
Lead sponsor
Neurocrine Biosciences
Industry
Eligibility
2 Years to 17 Years
Enrollment
103 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
22
States / cities
Birmingham, Alabama • Los Angeles, California • Orange, California + 19 more
Source: ClinicalTrials.gov public record
Updated Feb 5, 2025 · Synced Oct 22, 2026, 9:38 PM EDT
Not listed Not applicable Interventional

Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU)

NCT05174559
View directory record Official record
Conditions
Phenylketonurias
Interventions
PreKUnil® LNAA Medical Food for PKU
Other
Lead sponsor
University of Southern California
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Dec 4, 2023 · Synced Oct 22, 2026, 9:38 PM EDT
Active, not recruiting Phase 3 Interventional

ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD

NCT03911505
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
Cipaglucosidase Alfa, Miglustat
Biological · Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
0 Years to 17 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
9
States / cities
Gainesville, Florida • Jacksonville, Florida • Atlanta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Sep 17, 2026 · Synced Oct 22, 2026, 9:38 PM EDT
Recruiting No phase listed Observational

Ganciclovir Resistant/Refractory Cytomegalovirus Infection in SOT Recipients and HSCT Patients

NCT05234723
View directory record Official record
Conditions
Cytomegalovirus Infections
Interventions
Not listed
Lead sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 15, 2026 · Synced Oct 22, 2026, 9:38 PM EDT
Active, not recruiting No phase listed Observational

The REPLACE Registry for Cholbam® (Cholic Acid)

NCT03115086
View directory record Official record
Conditions
Bile Acid Synthesis Disorders
Interventions
Cholbam
Drug
Lead sponsor
Mirum Pharmaceuticals, Inc.
Industry
Eligibility
Not listed
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2039
U.S. locations
24
States / cities
Birmingham, Alabama • Palo Alto, California • San Francisco, California + 18 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2026 · Synced Oct 22, 2026, 9:38 PM EDT
Not listed Phase 3 Interventional

AT-007 in Adult Subjects With Classic Galactosemia (CG)

NCT05418829
View directory record Official record
Conditions
Classic Galactosemia
Interventions
AT-007
Drug
Lead sponsor
Applied Therapeutics, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Berlin, New Jersey
Source: ClinicalTrials.gov public record
Updated Jun 14, 2022 · Synced Oct 22, 2026, 9:38 PM EDT
Active, not recruiting No phase listed Observational

X-linked Hypophosphatemia Disease Monitoring Program

NCT03651505
View directory record Official record
Conditions
X-linked Hypophosphatemia, Hypophosphatemic Rickets
Interventions
No intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
Not listed
Enrollment
782 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2032
U.S. locations
24
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 18 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2026 · Synced Oct 22, 2026, 9:38 PM EDT
Recruiting No phase listed Observational

Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)

NCT06805695
View directory record Official record
Conditions
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
Interventions
No Intervention
Other
Lead sponsor
iECURE, Inc.
Industry
Eligibility
7 Months to 15 Months
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2041
U.S. locations
2
States / cities
Aurora, Colorado • New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Oct 22, 2026, 9:38 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Extension Study of PRX-102 for up to 60 Months

NCT01981720
View directory record Official record
Conditions
Fabry Disease
Interventions
PRX-102 (pegunigalsidase alfa)
Biological
Lead sponsor
Protalix
Industry
Eligibility
18 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2021
U.S. locations
5
States / cities
Gainesville, Florida • Iowa City, Iowa • Baltimore, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Sep 13, 2023 · Synced Oct 22, 2026, 9:38 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 22, 2026, 9:38 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 9, 2019 · Synced Oct 22, 2026, 9:38 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism

NCT01358474
View directory record Official record
Conditions
Parkinson Disease, Gaucher Disease, Idiopathic Rapid Eye Movement Sleep Disorder
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 85 Years
Enrollment
56 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2018
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 18, 2019 · Synced Oct 22, 2026, 9:38 PM EDT
Recruiting No phase listed Observational

Clinical and Neuropsychological Investigations in Batten Disease

NCT01873924
View directory record Official record
Conditions
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3, Neuronal Ceroid Lipofuscinosis CLN5, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN7, Neuronal Ceroid Lipofuscinosis CLN8, Neuronal Ceroid Lipofuscinosis CLN10, Batten Disease
Interventions
Not listed
Lead sponsor
University of Rochester
Other
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2035
U.S. locations
1
States / cities
Rochester, New York
Source: ClinicalTrials.gov public record
Updated Sep 12, 2025 · Synced Oct 22, 2026, 9:38 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Assessing the Role of the NLRP3 Inflammasome in Intercritical Gout

NCT04125459
View directory record Official record
Conditions
Gout
Interventions
Joint Biopsy
Procedure
Lead sponsor
Attune Health Research, Inc.
Industry
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
1
States / cities
Beverly Hills, California
Source: ClinicalTrials.gov public record
Updated Aug 6, 2024 · Synced Oct 22, 2026, 9:38 PM EDT
Completed Phase 2 Interventional Results available

RDEA3170 and Febuxostat Combination Study in Gout Subjects

NCT02246673
View directory record Official record
Conditions
Gout
Interventions
RDEA3170 15 mg, RDEA3170 10 mg, RDEA3170 2.5, RDEA3170 5 mg, Febuxostat 40 mg, Febuxostat 80 mg
Drug
Lead sponsor
Ardea Biosciences, Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
6
States / cities
Anaheim, California • Glendale, California • South Miami, Florida + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 27, 2017 · Synced Oct 22, 2026, 9:38 PM EDT
Completed Phase 2 Interventional Results available

Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia

NCT03525886
View directory record Official record
Conditions
CAH - Congenital Adrenal Hyperplasia
Interventions
NBI-74788
Drug
Lead sponsor
Neurocrine Biosciences
Industry
Eligibility
18 Years to 50 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
6
States / cities
Aurora, Colorado • Indianapolis, Indiana • Ann Arbor, Michigan + 3 more
Source: ClinicalTrials.gov public record
Updated May 3, 2022 · Synced Oct 22, 2026, 9:38 PM EDT
Completed No phase listed Observational

Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta

NCT01745185
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
O & O Alpan LLC
Other
Eligibility
7 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Apr 4, 2017 · Synced Oct 22, 2026, 9:38 PM EDT
Completed No phase listed Observational

Study of Smith-Lemli-Opitz Syndrome

NCT00001721
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Cholesterol Suspension, CRH, Cholesterol
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 7, 2026 · Synced Oct 22, 2026, 9:38 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I

NCT02702115
View directory record Official record
Conditions
MPS I
Interventions
SB-318
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
5 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Oakland, California
Source: ClinicalTrials.gov public record
Updated Jan 26, 2023 · Synced Oct 22, 2026, 9:38 PM EDT
Completed Phase 1 Interventional

Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I

NCT02371226
View directory record Official record
Conditions
Mucopolysaccharidosis I
Interventions
AGT-181 (HIRMAb-IDUA)
Drug
Lead sponsor
ArmaGen, Inc
Industry
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
6
States / cities
Oakland, California • Orange, California • Decatur, Georgia + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 21, 2023 · Synced Oct 22, 2026, 9:38 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study 102: Multiple Ascending Dose Study of ALLN-346 (Engineered Urate Oxidase)

NCT04829435
View directory record Official record
Conditions
Hyperuricemia, Gout
Interventions
ALLN-346, Placebo
Drug
Lead sponsor
Allena Pharmaceuticals
Industry
Eligibility
18 Years to 55 Years
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 1, 2021 · Synced Oct 22, 2026, 9:38 PM EDT
Completed No phase listed Observational

Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)

NCT01136304
View directory record Official record
Conditions
Gaucher Disease
Interventions
Imiglucerase
Drug
Lead sponsor
University Research Foundation for Lysosomal Storage Diseases, Inc.
Other
Eligibility
18 Years and older
Enrollment
173 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
2
States / cities
Beverly Hills, California • Coral Springs, Florida
Source: ClinicalTrials.gov public record
Updated Jun 1, 2015 · Synced Oct 22, 2026, 9:38 PM EDT
Enrolling by invitation Phase 2 Interventional

124I-Evuzamitide PET/CT Imaging In Patients With Lumbar Spinal Stenosis and Carpal Tunnel Syndrome

NCT06907849
View directory record Official record
Conditions
Lumbar Spinal Stenosis, Carpal Tunnel Syndrome (CTS), Cardiac Amyloidosis
Interventions
124I-evuzamitide
Drug
Lead sponsor
University of Tennessee Graduate School of Medicine
Other
Eligibility
60 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Knoxville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Oct 22, 2026, 9:38 PM EDT