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ClinicalTrials.gov public records Last synced Oct 20, 2026, 3:15 PM EDT

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Showing 25–48 of 1,509 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Inborn Errors of Metabolism Disorders Clear all
Active, not recruiting No phase listed Observational

Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

NCT04098211
View directory record Official record
Conditions
Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
Interventions
Not listed
Lead sponsor
Children's Hospital of Orange County
Other
Eligibility
4 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
1
States / cities
Orange, California
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Oct 20, 2026, 3:15 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Trial of Leptin Replacement Therapy in Patients With Lipodystrophy

NCT00896298
View directory record Official record
Conditions
Hypoleptinemia, Generalized Lipodystrophy, Partial Lipodystrophy, Insulin Resistance
Interventions
Leptin, Placebo
Drug
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
6 Years to 70 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2014
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 27, 2024 · Synced Oct 20, 2026, 3:15 PM EDT
Completed No phase listed Observational

Pompe Lactation Sub-Registry

NCT00566878
View directory record Official record
Conditions
Glycogen Storage Disease, Pompe Disease
Interventions
alglucosidase alfa
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Female only
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2024
U.S. locations
2
States / cities
Cambridge, Massachusetts • Grand Rapids, Michigan
Source: ClinicalTrials.gov public record
Updated Mar 19, 2024 · Synced Oct 20, 2026, 3:15 PM EDT
Recruiting No phase listed Observational

Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

NCT06190626
View directory record Official record
Conditions
Zellweger Spectrum Disorder
Interventions
Not listed
Lead sponsor
McGill University Health Centre/Research Institute of the McGill University Health Centre
Other
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2029
U.S. locations
1
States / cities
Rochester, New York
Source: ClinicalTrials.gov public record
Updated Jan 21, 2026 · Synced Oct 20, 2026, 3:15 PM EDT
Completed No phase listed Observational Results available

Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia

NCT03970278
View directory record Official record
Conditions
Glycogen Storage Disease Type IA, Von Gierke's Disease (GSD Type Ia)
Interventions
No intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
3
States / cities
Farmington, Connecticut • Ann Arbor, Michigan • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Oct 20, 2026, 3:15 PM EDT
Completed Phase 1 Interventional Results available

Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders

NCT00744692
View directory record Official record
Conditions
Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies, Inborn Errors of Metabolism, Sickle Cell, Thalassemia, Lysosomal Storage Disease
Interventions
Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning
Biological · Drug
Lead sponsor
Duke University
Other
Eligibility
Up to 21 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2014
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Aug 13, 2014 · Synced Oct 20, 2026, 3:15 PM EDT
Recruiting No phase listed Observational

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

NCT06305234
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2033
U.S. locations
11
States / cities
Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Oct 20, 2026, 3:15 PM EDT
Completed No phase listed Observational

Longitudinal Studies of Brain Structure and Function in MPS Disorders

NCT01870375
View directory record Official record
Conditions
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VII
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
6 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2019
U.S. locations
3
States / cities
Oakland, California • Minneapolis, Minnesota • New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 6, 2019 · Synced Oct 20, 2026, 3:15 PM EDT
Recruiting No phase listed Observational

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

NCT04199000
View directory record Official record
Conditions
Congenital Disorders of Glycosylation
Interventions
Not listed
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2030
U.S. locations
12
States / cities
San Diego, California • Aurora, Colorado • Jacksonville, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Oct 20, 2026, 3:15 PM EDT
Completed Phase 1Phase 2 Interventional

A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency

NCT02488044
View directory record Official record
Conditions
Arginase I Deficiency, Hyperargininemia
Interventions
AEB1102
Drug
Lead sponsor
Aeglea Biotherapeutics
Industry
Eligibility
2 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
6
States / cities
Stanford, California • Gainesville, Florida • Detroit, Michigan + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 12, 2019 · Synced Oct 20, 2026, 3:15 PM EDT
Not listed Not applicable Interventional

Investigation of Supplemental L-alanine in the Management of Dietary Fructose Intolerance

NCT04022434
View directory record Official record
Conditions
Fructose Intolerance
Interventions
Placedo, Alanine
Dietary Supplement
Lead sponsor
Augusta University
Other
Eligibility
18 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
1
States / cities
Augusta, Georgia
Source: ClinicalTrials.gov public record
Updated Apr 15, 2020 · Synced Oct 20, 2026, 3:15 PM EDT
Completed Phase 2 Interventional Results available

CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy

NCT02654977
View directory record Official record
Conditions
Familial Partial Lipodystrophy, Nonalcoholic Steatohepatitis, NAFLD
Interventions
Metreleptin
Drug
Lead sponsor
University of Michigan
Other
Eligibility
5 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Nov 24, 2020 · Synced Oct 20, 2026, 3:15 PM EDT
Completed No phase listed Observational Results available

A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)

NCT01419028
View directory record Official record
Conditions
Hypophosphatasia (HPP)
Interventions
Not listed
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
Not listed
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
5
States / cities
Los Angeles, California • Indianapolis, Indiana • St Louis, Missouri + 2 more
Source: ClinicalTrials.gov public record
Updated Apr 1, 2019 · Synced Oct 20, 2026, 3:15 PM EDT
Recruiting No phase listed Observational

Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing

NCT06749366
View directory record Official record
Conditions
Enchondromatosis
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 100 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 1, 2026 · Synced Oct 20, 2026, 3:15 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI

NCT03153319
View directory record Official record
Conditions
Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
Interventions
Adalimumab Injection [Humira], Saline Solution for Injection
Drug
Lead sponsor
Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Other
Eligibility
5 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
1
States / cities
Torrance, California
Source: ClinicalTrials.gov public record
Updated Feb 2, 2026 · Synced Oct 20, 2026, 3:15 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Familial Partial Lipodystrophy Study

NCT02858830
View directory record Official record
Conditions
Lipodystrophy, Familial Partial
Interventions
High fat mixed meal
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
12 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2017
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 24, 2021 · Synced Oct 20, 2026, 3:15 PM EDT
Completed Phase 3 Interventional Results available

Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)

NCT02537431
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
burosumab
Biological
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
5
States / cities
San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 18, 2024 · Synced Oct 20, 2026, 3:15 PM EDT
Not listed No phase listed Observational

Studies in Porphyria I: Characterization of Enzyme Defects

NCT00004331
View directory record Official record
Conditions
Porphyria
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1992
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 20, 2026, 3:15 PM EDT
Withdrawn Phase 2 Interventional

Alipogene Tiparvovec for the Treatment of LPLD Patients

NCT02904772
View directory record Official record
Conditions
LPL Deficiency
Interventions
alipogene tiparvovec, Prednisolone, Cyclosporins, Mycophenolate mofetil
Drug
Lead sponsor
UniQure Biopharma B.V.
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 17, 2017 · Synced Oct 20, 2026, 3:15 PM EDT
Terminated Phase 2 Interventional Results available

Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme

NCT00837824
View directory record Official record
Conditions
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Interventions
Fabrazyme (agalsidase beta)
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2003
U.S. locations
9
States / cities
Farmington, Connecticut • Coral Springs, Florida • Kansas City, Kansas + 6 more
Source: ClinicalTrials.gov public record
Updated Apr 7, 2015 · Synced Oct 20, 2026, 3:15 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria

NCT03392896
View directory record Official record
Conditions
Primary Hyperoxaluria
Interventions
DCR-PHXC, Placebo
Drug
Lead sponsor
Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Industry
Eligibility
6 Years and older
Enrollment
43 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2019
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Sep 19, 2024 · Synced Oct 20, 2026, 3:15 PM EDT
Completed Phase 1 Interventional

A Pharmacokinetic and Tolerance Study of Oral Ganciclovir in HIV-Infected Children With Asymptomatic Cytomegalovirus Infection and Low CD4 Cell Counts or Quiescent Cytomegalovirus Disease

NCT00000805
View directory record Official record
Conditions
Cytomegalovirus Infections, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
14 Days to 20 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1998
U.S. locations
18
States / cities
Los Angeles, California • Oakland, California • San Diego, California + 10 more
Source: ClinicalTrials.gov public record
Updated Nov 3, 2021 · Synced Oct 20, 2026, 3:15 PM EDT
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 20, 2026, 3:15 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Natural History of Apparent Mineralocorticoid Excess Syndrome

NCT00474942
View directory record Official record
Conditions
Apparent Mineralocorticoid Excess Syndrome
Interventions
Not listed
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
Not listed
Enrollment
130 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2013
U.S. locations
2
States / cities
New York, New York • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 11, 2015 · Synced Oct 20, 2026, 3:15 PM EDT