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ClinicalTrials.gov public records Last synced May 21, 2026, 6:56 PM EDT

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

Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Active, not recruiting Phase 3 Interventional
View directory record Official record
Conditions
Primary Hyperoxaluria Type 1 (PH1), Primary Hyperoxaluria Type 2 (PH2), Kidney Diseases, Urologic Diseases, Genetic Disease, Primary Hyperoxaluria Type 3 (PH3)
Interventions
DCR-PHXC
Drug
Lead sponsor
Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Industry
Eligibility
Not listed
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2030
U.S. locations
4
States / cities
San Francisco, California • Boston, Massachusetts • Rochester, Minnesota + 1 more
Source: ClinicalTrials.gov public record
Updated May 29, 2025 · Synced May 21, 2026, 6:56 PM EDT
Approved For Marketing No phase listed Expanded access
View directory record Official record
Conditions
Fabry Disease
Interventions
Pegunigalsidase Alfa
Drug
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
18 Years and older
U.S. locations
11
States / cities
Birmingham, Alabama • Phoenix, Arizona • Orange, California + 8 more
Source: ClinicalTrials.gov public record
Updated Jul 30, 2024 · Synced May 21, 2026, 6:56 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Generalised Lipodystrophy, Partial Lipodystrophy
Interventions
Metreleptin
Drug
Lead sponsor
Amryt Pharma
Industry
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2031
U.S. locations
16
States / cities
Birmingham, Alabama • Duarte, California • Atlanta, Georgia + 11 more
Source: ClinicalTrials.gov public record
Updated Jan 19, 2026 · Synced May 21, 2026, 6:56 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Endocrine Disease, Adrenal Insufficiency, Congenital Adrenal Hyperplasia
Interventions
Hydrocortisone Modified Release Capsules
Drug
Lead sponsor
Neurocrine UK Limited
Industry
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 16, 2017 · Synced May 21, 2026, 6:56 PM EDT
Completed Not applicable Interventional Results available
View directory record Official record
Conditions
Hypercholesterolemia, Hypercholesterolemia, Familial, Hypercholesteremia in Children, Hyperlipidemia in Children
Interventions
Best Practice Alert, Health Maintenance Topic
Behavioral
Lead sponsor
Geisinger Clinic
Other
Eligibility
9 Years to 11 Years
Enrollment
13,340 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Danville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 6, 2023 · Synced May 21, 2026, 6:56 PM EDT
Completed Phase 1Phase 2 Interventional
View directory record Official record
Conditions
Sickle Cell Disease, Thalassemia, Anemia, Granuloma, Wiskott-Aldrich Syndrome, Chediak Higashi Syndrome, Osteopetrosis, Neutropenia, Thrombocytopenia, Hurler Disease, Niemann-Pick Disease, Fucosidosis
Interventions
Hematopoietic stem cell transplantation
Procedure
Lead sponsor
Children's Hospital Los Angeles
Other
Eligibility
Up to 21 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jun 22, 2016 · Synced May 21, 2026, 6:56 PM EDT
Recruiting Not applicable Interventional
View directory record Official record
Conditions
Pseudohypoparathyroidism Type 1A, Albright Hereditary Osteodystrophy, Pseudopseudohypoparathyroidism
Interventions
Neurocognitive and psychosocial testing
Behavioral
Lead sponsor
Connecticut Children's Medical Center
Other
Eligibility
2 Months to 89 Years
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2030
U.S. locations
1
States / cities
Hartford, Connecticut
Source: ClinicalTrials.gov public record
Updated May 27, 2025 · Synced May 21, 2026, 6:56 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional
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
11
States / cities
Los Angeles, California • Redwood City, California • Sacramento, California + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 12, 2026 · Synced May 21, 2026, 6:56 PM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
F-18 florbetapir PET
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
23 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 19, 2025 · Synced May 21, 2026, 6:56 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Phenylketonuria
Interventions
Not listed
Lead sponsor
Shoji Yano
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2010
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jan 17, 2013 · Synced May 21, 2026, 6:56 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Pompe Disease
Interventions
respiratory muscle strength training
Other
Lead sponsor
Duke University
Other
Eligibility
3 Years to 99 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2012
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated May 29, 2023 · Synced May 21, 2026, 6:56 PM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
Conditions
Arthritis, Gouty
Interventions
Indomethacin, Celecoxib
Drug
Lead sponsor
Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Industry
Eligibility
18 Years and older
Enrollment
402 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
43
States / cities
Glendale, Arizona • Mesa, Arizona • Paradise Valley, Arizona + 37 more
Source: ClinicalTrials.gov public record
Updated Feb 20, 2021 · Synced May 21, 2026, 6:56 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA
Interventions
Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.
Diagnostic Test
Lead sponsor
Nemours Children's Clinic
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Wilmington, Delaware
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced May 21, 2026, 6:56 PM EDT
Completed Phase 2 Interventional
View directory record Official record
Conditions
Gout, Hyperuricemia
Interventions
Tranilast, Allopurinol, Combination - Tranilast and Allopurinol, 400 mg Allopurinol, High dose combination
Drug
Lead sponsor
Nuon Therapeutics, Inc.
Industry
Eligibility
21 Years to 70 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010
U.S. locations
3
States / cities
Honolulu, Hawaii • Evansville, Indiana • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jan 5, 2011 · Synced May 21, 2026, 6:56 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Lafora Disease
Interventions
Not listed
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
5 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
Los Angeles, California • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Sep 27, 2022 · Synced May 21, 2026, 6:56 PM EDT
Completed Phase 1 Interventional
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Aldesleukin
Drug
Lead sponsor
Chiron Corporation
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Toledo, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 21, 2026, 6:56 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Hypophosphatasia
Interventions
asfotase alfa
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 99 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
1
States / cities
Palm Harbor, Florida
Source: ClinicalTrials.gov public record
Updated Jul 9, 2024 · Synced May 21, 2026, 6:56 PM EDT
Completed Phase 2 Interventional
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections, Gastrointestinal Diseases
Interventions
Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years and older
Enrollment
850 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1995
U.S. locations
17
States / cities
San Francisco, California • Denver, Colorado • Wilmington, Delaware + 12 more
Source: ClinicalTrials.gov public record
Updated Nov 3, 2021 · Synced May 21, 2026, 6:56 PM EDT
Active, not recruiting Phase 2 Interventional Results available
View directory record Official record
Conditions
Metachromatic Leukodystrophy (MLD)
Interventions
SHP611
Drug
Lead sponsor
Shire
Industry
Eligibility
6 Months to 72 Months
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
11
States / cities
Torrance, California • Aurora, Colorado • Atlanta, Georgia + 8 more
Source: ClinicalTrials.gov public record
Updated Apr 14, 2026 · Synced May 21, 2026, 6:56 PM EDT
Not listed No phase listed Observational
View directory record Official record
Conditions
Gaucher Disease
Interventions
Not listed
Lead sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Other
Eligibility
18 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Aug 12, 2019 · Synced May 21, 2026, 6:56 PM EDT
Recruiting Phase 3 Interventional
View directory record Official record
Conditions
Familial Partial Lipodystrophy
Interventions
Metreleptin
Drug
Lead sponsor
Amryt Pharma
Industry
Eligibility
13 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
7
States / cities
Birmingham, Alabama • Boca Raton, Florida • Boston, Massachusetts + 4 more
Source: ClinicalTrials.gov public record
Updated Feb 1, 2026 · Synced May 21, 2026, 6:56 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia (CAH), Familial Male-Limited Precocious Puberty (FMPP)
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Day to 99 Years
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2006
U.S. locations
2
States / cities
Washington D.C., District of Columbia • Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced May 21, 2026, 6:56 PM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
evinacumab, Placebo
Drug
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
6
States / cities
Boca Raton, Florida • Boston, Massachusetts • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated May 17, 2021 · Synced May 21, 2026, 6:56 PM EDT
Active, not recruiting No phase listed Observational
View directory record Official record
Conditions
Wilson Disease
Interventions
Not listed
Lead sponsor
Prime Medicine, Inc.
Industry
Eligibility
18 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
7
States / cities
Los Angeles, California • Sacramento, California • New Haven, Connecticut + 4 more
Source: ClinicalTrials.gov public record
Updated May 11, 2026 · Synced May 21, 2026, 6:56 PM EDT