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ClinicalTrials.gov public records Last synced Oct 23, 2026, 6:50 PM EDT

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Showing 145–168 of 2,421 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolic Abnormalities Clear all
Completed No phase listed Observational

Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients

NCT04041102
View directory record Official record
Conditions
GM1 Gangliosidosis
Interventions
Not listed
Lead sponsor
University of Pennsylvania
Other
Eligibility
Not listed
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
2
States / cities
Oakland, California • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 24, 2025 · Synced Oct 23, 2026, 6:50 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 23, 2026, 6:50 PM EDT
Terminated Phase 2 Interventional Results available

A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia

NCT04638153
View directory record Official record
Conditions
Achondroplasia
Interventions
Recifercept
Biological
Lead sponsor
Pfizer
Industry
Eligibility
3 Months to 10 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
6
States / cities
Aliso Viejo, California • Irvine, California • Long Beach, California + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 15, 2024 · Synced Oct 23, 2026, 6:50 PM EDT
Recruiting Phase 1 Interventional

Repeat PET/CT Imaging in People With CAPS and Anakinra-Induced Amyloidosis Using an Amyloid-Reactive Peptide to Measure Changes in Organ-Specific Amyloid Load

NCT06974877
View directory record Official record
Conditions
Cryopyrin-Associated Periodic Syndromes, Amyloidosis
Interventions
124I AT-01
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 120 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2032
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 19, 2026 · Synced Oct 23, 2026, 6:50 PM EDT
Active, not recruiting Phase 3 Interventional

Phase 3 Study of ALXN1850 in Pediatric Participants With HPP Previously Treated With Asfotase Alfa

NCT06079372
View directory record Official record
Conditions
Hypophosphatasia
Interventions
ALXN1850, asfotase alfa
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 11 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
6
States / cities
Hartford, Connecticut • Baltimore, Maryland • Minneapolis, Minnesota + 3 more
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Oct 23, 2026, 6:50 PM EDT
Terminated Phase 3 Interventional Results available

An Extension Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria

NCT03938272
View directory record Official record
Conditions
Hyperoxaluria, Primary
Interventions
Oxabact OC5 - Oxalobacter formigenes Strain HC-1
Biological
Lead sponsor
OxThera
Industry
Eligibility
3 Years and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Dec 8, 2021 · Synced Oct 23, 2026, 6:50 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Menstrual Cup for Early Endometrial Cancer Detection in Lynch Syndrome

NCT07220239
View directory record Official record
Conditions
Endometrial Cancer, Lynch Syndrome, Screening, Early Detection of Cancer
Interventions
Menstrual cup use
Device
Lead sponsor
Jessica D. St. Laurent, MD
Other
Eligibility
18 Years and older · Female only
Enrollment
25 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Oct 23, 2026, 6:50 PM EDT
Terminated Phase 1 Interventional Accepts healthy volunteers

A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia

NCT04836494
View directory record Official record
Conditions
Healthy Volunteers, Propionic Acidemia, Methylmalonic Acidemia, Organic Acidemia
Interventions
BBP-671, Placebo
Drug
Lead sponsor
CoA Therapeutics, Inc., a BridgeBio company
Industry
Eligibility
15 Years to 55 Years
Enrollment
79 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2023
U.S. locations
3
States / cities
Topeka, Indiana • Pittsburgh, Pennsylvania • Austin, Texas
Source: ClinicalTrials.gov public record
Updated Dec 21, 2023 · Synced Oct 23, 2026, 6:50 PM EDT
Completed Not applicable Interventional

A Study of AZT Plus Ganciclovir in Patients With AIDS and Cytomegalovirus (CMV) Infection

NCT00000995
View directory record Official record
Conditions
Cytomegalovirus Infections, HIV Infections
Interventions
Zidovudine, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1990
U.S. locations
3
States / cities
San Diego, California • New York, New York • Rochester, New York
Source: ClinicalTrials.gov public record
Updated Nov 4, 2021 · Synced Oct 23, 2026, 6:50 PM EDT
Suspended No phase listed Observational

Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)

NCT00571272
View directory record Official record
Conditions
Liver Diseases, Alagille Syndrome, Alpha 1-Antitrypsin Deficiency
Interventions
Not listed
Lead sponsor
Arbor Research Collaborative for Health
Other
Eligibility
Up to 25 Years
Enrollment
1,675 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2029
U.S. locations
16
States / cities
Los Angeles, California • San Francisco, California • Aurora, Colorado + 12 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2026 · Synced Oct 23, 2026, 6:50 PM EDT
Active, not recruiting Phase 2 Interventional

Theophylline Treatment for Pseudohypoparathyroidism - Children 2-12 Years Old

NCT04551170
View directory record Official record
Conditions
Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy, Pseudohypoparathyroidism Type 1a
Interventions
Theophylline, Placebo
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
2 Years to 12 Years
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 29, 2026 · Synced Oct 23, 2026, 6:50 PM EDT
Completed Phase 3 Interventional Results available

Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I

NCT00912925
View directory record Official record
Conditions
Mucopolysaccharidosis I, Hurlers Syndrome, Hurler-Scheie Syndrome
Interventions
rhIDU (recombinant human-Alpha-L-Iduronidase), Placebo
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
5 Years and older
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2001
U.S. locations
2
States / cities
New York, New York • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 7, 2015 · Synced Oct 23, 2026, 6:50 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

The PREFORM Study: Rotational Fractional Resection for Submental Contouring

NCT03966924
View directory record Official record
Conditions
Skin Laxity, Lipodystrophy
Interventions
Rotational fractional resection (1.5mm Diameter Device)
Device
Lead sponsor
Recros Medica, Inc.
Industry
Eligibility
30 Years and older
Enrollment
2 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019
U.S. locations
1
States / cities
Newport Beach, California
Source: ClinicalTrials.gov public record
Updated May 11, 2021 · Synced Oct 23, 2026, 6:50 PM EDT
Completed No phase listed Observational

Farber Disease Natural History Study

NCT03233841
View directory record Official record
Conditions
Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency, Ceramidase Deficiency, N-Laurylsphingosine Deacylase Deficiency, ASAH1 Mutation
Interventions
Not listed
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
2
States / cities
Oakland, California • Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 18, 2020 · Synced Oct 23, 2026, 6:50 PM EDT
Approved For Marketing No phase listed Expanded access

BMN 110 US Expanded Access Program

NCT01858103
View directory record Official record
Conditions
Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
Interventions
BMN 110
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
U.S. locations
24
States / cities
Birmingham, Alabama • Little Rock, Arkansas • Oakland, California + 21 more
Source: ClinicalTrials.gov public record
Updated Apr 2, 2014 · Synced Oct 23, 2026, 6:50 PM EDT
Completed Phase 3 Interventional Results available

A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)

NCT01275066
View directory record Official record
Conditions
MPS IV A
Interventions
BMN 110 Weekly, Placebo, BMN 110 Every Other Week
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
5 Years and older
Enrollment
177 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
6
States / cities
Oakland, California • Wilmington, Delaware • Washington D.C., District of Columbia + 3 more
Source: ClinicalTrials.gov public record
Updated Jul 7, 2014 · Synced Oct 23, 2026, 6:50 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Functional Evaluation in Patients With Urea Cycle Disorders (UCD) During a Driving Task

NCT07701694
View directory record Official record
Conditions
Urea Cycle Disorder
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
16 Years to 40 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2032
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 31, 2026 · Synced Oct 23, 2026, 6:50 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 23, 2026, 6:50 PM EDT
Active, not recruiting Phase 2 Interventional Results available

Eltrombopag for Fanconi Anemia

NCT03206086
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Eltrombopag
Drug
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
6 Years to 99 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2028
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 23, 2026, 6:50 PM EDT
Not yet recruiting Not applicable Interventional

Whole Gut Motility Abnormalities Following GLP-1 Receptor Agonist (GLP-1RA) Initiation

NCT07784127
View directory record Official record
Conditions
Diabetes
Interventions
Gut motility quantification using a capsule after initiating GLP-1RA therapy
Procedure
Lead sponsor
The Cleveland Clinic
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Oct 23, 2026, 6:50 PM EDT
Completed Phase 2 Interventional Results available

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

NCT02004704
View directory record Official record
Conditions
Sphingomyelin Lipidosis
Interventions
GZ402665
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 3, 2024 · Synced Oct 23, 2026, 6:50 PM EDT
Recruiting Phase 2 Interventional

18FluoroLDOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism

NCT04205604
View directory record Official record
Conditions
Congenital Hyperinsulinism
Interventions
18F-Fluoro Dopa Imaging
Drug
Lead sponsor
Miguel Pampaloni
Other
Eligibility
0 Days to 18 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated May 1, 2026 · Synced Oct 23, 2026, 6:50 PM EDT
Completed Phase 1 Interventional

Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria

NCT00634660
View directory record Official record
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 50 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
8
States / cities
Chicago, Illinois • Minneapolis, Minnesota • St Louis, Missouri + 5 more
Source: ClinicalTrials.gov public record
Updated Feb 1, 2017 · Synced Oct 23, 2026, 6:50 PM EDT
Active, not recruiting Phase 3 Interventional

Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP

NCT06079359
View directory record Official record
Conditions
Hypophosphatasia
Interventions
ALXN1850, Placebo
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 11 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
3
States / cities
Baltimore, Maryland • Kansas City, Missouri • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated May 28, 2026 · Synced Oct 23, 2026, 6:50 PM EDT