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ClinicalTrials.gov public records Last synced Oct 24, 2026, 6:45 PM EDT

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

Showing 529–552 of 1,510 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Completed Phase 2 Interventional

RDEA3170 Monotherapy in Subjects With Gout

NCT01927198
View directory record Official record
Conditions
Gout
Interventions
Placebo, RDEA3170 5 mg, RDEA3170 10 mg, RDEA3170 12.5 mg
Drug
Lead sponsor
Ardea Biosciences, Inc.
Industry
Eligibility
18 Years to 70 Years
Enrollment
172 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
49
States / cities
Birmingham, Alabama • Gulf Shores, Alabama • Mobile, Alabama + 45 more
Source: ClinicalTrials.gov public record
Updated Jul 1, 2015 · Synced Oct 24, 2026, 6:45 PM EDT
Recruiting Phase 1Phase 2 Interventional

A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)

NCT07282847
View directory record Official record
Conditions
Pompe Disease (Late-onset), Pompe Disease Late-Onset, LOPD
Interventions
AB-1009 (GAA Gene)
Genetic
Lead sponsor
AskBio Inc
Industry
Eligibility
18 Years to 65 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2032
U.S. locations
9
States / cities
Phoenix, Arizona • Irvine, California • Palo Alto, California + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 24, 2026, 6:45 PM EDT
Recruiting No phase listed Observational

Natural History Study of Parathyroid Disorders

NCT04969926
View directory record Official record
Conditions
Parathyroid Cancer, Primary Hyperparathyroidism, Pseudohypoparathyroidism, Inheritable Bone Diseases, Multiple Endocrine Neoplasia, Type 1
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
6 Months to 100 Years
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2031
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 17, 2026 · Synced Oct 24, 2026, 6:45 PM 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 24, 2026, 6:45 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease

NCT04884815
View directory record Official record
Conditions
Wilson Disease
Interventions
UX701, Standard of Care (SOC)
Genetic · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years and older
Enrollment
82 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2034
U.S. locations
12
States / cities
Los Angeles, California • Redwood City, California • Sacramento, California + 9 more
Source: ClinicalTrials.gov public record
Updated Sep 25, 2026 · Synced Oct 24, 2026, 6:45 PM EDT
Withdrawn Not applicable Interventional Accepts healthy volunteers

Calcimimetics in Hypophosphatemic Rickets

NCT00844740
View directory record Official record
Conditions
Familial Hypophosphatemic Rickets
Interventions
Cinacalcet
Drug
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
5 Years to 21 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2012
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Dec 17, 2020 · Synced Oct 24, 2026, 6:45 PM EDT
Terminated Not applicable Interventional Results available

Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome

NCT02156674
View directory record Official record
Conditions
Maroteaux-Lamy Syndrome
Interventions
Naglazyme®
Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
3 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 23, 2020 · Synced Oct 24, 2026, 6:45 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Drug Discovery for Parkinson's With Mutations in the GBA Gene

NCT05536388
View directory record Official record
Conditions
Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
Interventions
Biological Sample Collection
Other
Lead sponsor
New York Stem Cell Foundation Research Institute
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 3, 2025 · Synced Oct 24, 2026, 6:45 PM EDT
Recruiting Phase 3 Interventional

A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants

NCT06904261
View directory record Official record
Conditions
Fabry Disease
Interventions
Migalastat HCl 20 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
2 Years to 11 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
6
States / cities
Atlanta, Georgia • Minneapolis, Minnesota • Charlotte, North Carolina + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 22, 2026 · Synced Oct 24, 2026, 6:45 PM EDT
Completed No phase listed Observational

Mucopolysaccharidosis Type II Natural History

NCT03529786
View directory record Official record
Conditions
Mucopolysaccharidosis II
Interventions
Not listed
Lead sponsor
REGENXBIO Inc.
Industry
Eligibility
Male only
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 26, 2022 · Synced Oct 24, 2026, 6:45 PM EDT
Withdrawn Not applicable Interventional

Cholestanol in Humans

NCT00018694
View directory record Official record
Conditions
Cerebrotendinous Xanthomatosis
Interventions
Chenodeoxycholic Acid
Drug
Lead sponsor
US Department of Veterans Affairs
Federal
Eligibility
5 Years to 80 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2009
U.S. locations
1
States / cities
East Orange, New Jersey
Source: ClinicalTrials.gov public record
Updated Oct 14, 2013 · Synced Oct 24, 2026, 6:45 PM EDT
Completed Phase 3 Interventional Results available

Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia

NCT05063994
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Chronocort, Cortef, Placebo
Drug · Other
Lead sponsor
Neurocrine UK Limited
Industry
Eligibility
16 Years and older
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
11
States / cities
Los Angeles, California • Orange, California • Jacksonville, Florida + 8 more
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 24, 2026, 6:45 PM EDT
Active, not recruiting Phase 3 Interventional

A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease

NCT05206773
View directory record Official record
Conditions
Fabry Disease
Interventions
Venglustat (GZ402671), Placebo
Drug
Lead sponsor
Sanofi
Industry
Eligibility
16 Years and older
Enrollment
122 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
11
States / cities
Birmingham, Alabama • Los Angeles, California • Orange, California + 8 more
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 24, 2026, 6:45 PM EDT
Active, not recruiting Phase 2 Interventional

Evaluation of Efficacy and Safety of AR882 and XOI Co-administration in Uricase Treatment Failed Patients

NCT07116746
View directory record Official record
Conditions
Gout, Gouty Arthritis, Hyperuricemia, Gout Chronic, Refractory Gout, Uncontrolled Gout, Tophaceous Gout
Interventions
AR882 75 mg, XOI Low Dose, XOI High Dose
Drug
Lead sponsor
Arthrosi Therapeutics
Industry
Eligibility
18 Years to 85 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
8
States / cities
Margate, Florida • Miami, Florida • Tampa, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated May 15, 2026 · Synced Oct 24, 2026, 6:45 PM EDT
Completed Phase 2 Interventional

A Study of Persons With Gout Who Do Not Respond to or Are Allergic to Conventional Therapy

NCT00080210
View directory record Official record
Conditions
Gout
Interventions
Puricase
Drug
Lead sponsor
Savient Pharmaceuticals
Industry
Eligibility
18 Years to 90 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2005
U.S. locations
9
States / cities
Birmingham, Alabama • La Jolla, California • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 3, 2013 · Synced Oct 24, 2026, 6:45 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Korean Translation and Validation of the K-HEPI in NYC

NCT05544578
View directory record Official record
Conditions
Disaster, Vulnerable Populations
Interventions
Nurses Taking On Readiness Measures (N- TORM)
Behavioral
Lead sponsor
Hunter College of City University of New York
Other
Eligibility
18 Years and older
Enrollment
400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 15, 2024 · Synced Oct 24, 2026, 6:45 PM EDT
Withdrawn No phase listed Observational

Early Diagnosis Of Childhood Cerebral ALD

NCT02948062
View directory record Official record
Conditions
Adrenoleukodystrophy
Interventions
Not listed
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
1 Year to 5 Years · Male only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 6, 2018 · Synced Oct 24, 2026, 6:45 PM EDT
Completed Phase 2 Interventional Results available

Safety and Effect of Doxycycline in Patients With Amyloidosis

NCT01677286
View directory record Official record
Conditions
Amyloidosis
Interventions
Doxycycline 100 mg po bid x 12 months
Drug
Lead sponsor
Boston University
Other
Eligibility
18 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 1, 2017 · Synced Oct 24, 2026, 6:45 PM EDT
Completed Not applicable Interventional

The Use of Mobile Health Technology and Behavioral Economics to Encourage Adherence in Adolescents

NCT04458766
View directory record Official record
Conditions
Familial Hypercholesterolemia, Adherence, Medication
Interventions
Monetary incentives
Behavioral
Lead sponsor
Boston Children's Hospital
Other
Eligibility
12 Years to 21 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 21, 2024 · Synced Oct 24, 2026, 6:45 PM EDT
Completed Phase 3 Interventional

Masitinib in Severe Indolent or Smoldering Systemic Mastocytosis

NCT00814073
View directory record Official record
Conditions
Indolent Systemic Mastocytosis
Interventions
Masitinib, Placebo, Best Supportive Care
Drug · Other
Lead sponsor
AB Science
Industry
Eligibility
18 Years to 75 Years
Enrollment
135 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
2
States / cities
Sacramento, California • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Dec 3, 2019 · Synced Oct 24, 2026, 6:45 PM EDT
Completed Phase 2 Interventional Results available

Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease

NCT02023866
View directory record Official record
Conditions
Inherited Mitochondrial Disease, Including Leigh Syndrome
Interventions
Cysteamine Bitartrate
Drug
Lead sponsor
Amgen
Industry
Eligibility
6 Years to 17 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
5
States / cities
San Diego, California • Stanford, California • Akron, Ohio + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 27, 2024 · Synced Oct 24, 2026, 6:45 PM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of Burosumab Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With XLH

NCT02915705
View directory record Official record
Conditions
X-Linked Hypophosphatemia
Interventions
burosumab, Oral Phosphate Supplement, active vitamin D
Biological · Drug
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
1 Year to 12 Years
Enrollment
61 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
5
States / cities
Los Angeles, California • San Francisco, California • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 29, 2024 · Synced Oct 24, 2026, 6:45 PM EDT
Completed No phase listed Observational Results available

A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.

NCT04281537
View directory record Official record
Conditions
Fabry Disease
Interventions
Enzyme Replacement Therapy (ERT)
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
82 participants
Timeline
2020 – 2022
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Oct 24, 2026, 6:45 PM EDT