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Showing 1–24 of 36 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Enzyme Deficiency Clear all
Completed Phase 2 Interventional Results available

Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency

NCT01488097
View directory record Official record
Conditions
Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency
Interventions
sebelipase alfa
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2017
U.S. locations
5
States / cities
Eureka, California • Sacramento, California • San Francisco, California + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 19, 2018 · Synced Jul 22, 2026, 2:44 PM EDT
Active, not recruiting Phase 2 Interventional

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

NCT02171104
View directory record Official record
Conditions
Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders
Interventions
Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B), cALD HR-D (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D)
Biological · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
149 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 6, 2026 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Phase 1 Interventional

Intrathecal Enzyme Replacement for Hurler Syndrome

NCT00638547
View directory record Official record
Conditions
Hurler Syndrome
Interventions
IRT Laronidase
Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
6 Months to 3 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2018
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 2, 2018 · Synced Jul 22, 2026, 2:44 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Pegtibatinase As an Enzyme Therapy for Patients with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)

NCT03406611
View directory record Official record
Conditions
Homocystinuria
Interventions
Pegtibatinase, Placebo
Drug
Lead sponsor
Travere Therapeutics, Inc.
Industry
Eligibility
12 Years to 65 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
8
States / cities
Culver City, California • Aurora, Colorado • Miami, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated Nov 21, 2024 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Phase 2 Interventional Results available

Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency

NCT02112994
View directory record Official record
Conditions
Lysosomal Acid Lipase Deficiency
Interventions
Sebelipase Alfa
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
8 Months and older
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
3
States / cities
Chicago, Illinois • Shreveport, Louisiana • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 3, 2019 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Evaluation of Safety, Tolerability and Immune Responses of Ebola-S and Marburg Vaccines in Healthy Adults

NCT04723602
View directory record Official record
Conditions
Ebola Virus Disease, Marburg Virus Disease
Interventions
cAd3-Marburg, cAd3-EBO-S
Biological
Lead sponsor
Albert B. Sabin Vaccine Institute
Other
Eligibility
18 Years to 50 Years
Enrollment
32 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021
U.S. locations
1
States / cities
Oklahoma City, Oklahoma
Source: ClinicalTrials.gov public record
Updated Aug 2, 2022 · Synced Jul 22, 2026, 2:44 PM EDT
Completed No phase listed Observational

Prevalence of Hepatitis C Virus Infection in HIV-Infected Children

NCT00037076
View directory record Official record
Conditions
HIV Infections, Hepatitis C
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
1 Year to 20 Years
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 2003
U.S. locations
37
States / cities
Birmingham, Alabama • Phoenix, Arizona • Los Angeles, California + 29 more
Source: ClinicalTrials.gov public record
Updated Oct 30, 2012 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Phase 1 Interventional

Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease

NCT01554800
View directory record Official record
Conditions
Coronary Artery Disease, Atherosclerosis
Interventions
ACP-501
Drug
Lead sponsor
MedImmune LLC
Industry
Eligibility
30 Years to 85 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 13, 2019 · Synced Jul 22, 2026, 2:44 PM EDT
Recruiting Phase 3 Interventional

A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)

NCT07555483
View directory record Official record
Conditions
Alpha 1 Antitrypsin Deficiency
Interventions
Alpha-1 15%, Liquid Alpha1-PI
Drug · Other
Lead sponsor
Grifols Therapeutics LLC
Industry
Eligibility
18 Years to 80 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
10
States / cities
Birmingham, Alabama • Phoenix, Arizona • Scottsdale, Arizona + 7 more
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Jul 22, 2026, 2:44 PM EDT
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 7, 2026 · Synced Jul 22, 2026, 2:44 PM EDT
Terminated Phase 1 Interventional Results available

Drug-Drug Interaction Study of Vesatolimod in Adults With HIV-1 Who Have Very Low or Undetectable Virus Levels

NCT05458102
View directory record Official record
Conditions
Human Immunodeficiency Virus Type 1 (HIV-1) Infection
Interventions
Vesatolimod, Cobicistat, Voriconazole, Rifabutin
Drug
Lead sponsor
Gilead Sciences
Industry
Eligibility
18 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
5
States / cities
Long Beach, California • Miami, Florida • West Palm Beach, Florida + 1 more
Source: ClinicalTrials.gov public record
Updated Dec 2, 2024 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Phase 1 Interventional Results available

Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation

NCT01881984
View directory record Official record
Conditions
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Interventions
Ravicti
Drug
Lead sponsor
University of Pittsburgh
Other
Eligibility
18 Years and older
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 24, 2017 · Synced Jul 22, 2026, 2:44 PM EDT
Recruiting No phase listed Observational

Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease

NCT01665326
View directory record Official record
Conditions
Pompe Disease
Interventions
Observational
Other
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2029
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 7, 2026 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Not applicable Interventional

Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM

NCT02428660
View directory record Official record
Conditions
Cytochrome P450 CYP2D6 Enzyme Deficiency, Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant, Ultrarapid Metabolizer Due to Cytochrome P450 CYP2D6 Variant, Extensive Metabolizer Due to Cytochrome P450 CYP2D6 Variant, Cytochrome P450 CYP2C9 Enzyme Deficiency, Cytochrome P450 CYP2C19 Enzyme Deficiency, Drug Metabolism, Poor, CYP2D6-RELATED, Drug Metabolism, Poor, CYP2C19-RELATED, CYP2D6 Polymorphism
Interventions
Pharmacogenetic testing, Software-based drug & gene interaction risk analysis, MTM
Genetic · Other
Lead sponsor
Genelex Corporation
Industry
Eligibility
65 Years and older
Enrollment
341 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Feb 22, 2017 · Synced Jul 22, 2026, 2:44 PM EDT
Terminated Phase 4 Interventional Results available

Study of the Effects of Fabrazyme Treatment on Lactation and Infants

NCT00230607
View directory record Official record
Conditions
Fabry Disease, Alpha Galactosidase A Deficiency
Interventions
agalsidase beta
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2024
U.S. locations
3
States / cities
Decatur, Georgia • Fairfax, Virginia • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 9, 2024 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Phase 3 Interventional Accepts healthy volunteers

Effectiveness of AZT and Nevirapine in Preventing HIV Transmission From Ugandan Mothers to Their Newborns

NCT00006396
View directory record Official record
Conditions
HIV Infections
Interventions
Nevirapine, Zidovudine
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
1 Day and older
Enrollment
1,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Ends 2004
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Nov 3, 2021 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Drug Metabolizing Enzyme and Transporter Function in Chronic Kidney Disease

NCT02360644
View directory record Official record
Conditions
Chronic Kidney Diseases, Deficiency, Vitamin D
Interventions
Cholecalciferol
Dietary Supplement
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years to 70 Years
Enrollment
23 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
2
States / cities
Aurora, Colorado • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 29, 2021 · Synced Jul 22, 2026, 2:44 PM EDT
Completed No phase listed Observational

Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up

NCT01884220
View directory record Official record
Conditions
Wolman Disease, Cholesterol Ester Storage Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Interventions
There are no interventions in this study.
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 27, 2015 · Synced Jul 22, 2026, 2:44 PM EDT
Recruiting Phase 1 Interventional

A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease

NCT07354724
View directory record Official record
Conditions
Late-onset Pompe Disease
Interventions
DNL952
Drug
Lead sponsor
Denali Therapeutics Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
3
States / cities
Irvine, California • Durham, North Carolina • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jun 28, 2026 · Synced Jul 22, 2026, 2:44 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)

NCT04885179
View directory record Official record
Conditions
Sphingolipidoses, Enzyme Deficiency
Interventions
no intervention
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
Not listed
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Oct 23, 2025 · Synced Jul 22, 2026, 2:44 PM EDT
Completed No phase listed Observational

The Effect of Anti-HIV Treatment on Body Characteristics of HIV-Infected Children

NCT00006064
View directory record Official record
Conditions
HIV Infections, HIV Wasting Syndrome, Lipodystrophy
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
1 Month to 12 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2005
U.S. locations
2
States / cities
The Bronx, New York • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 28, 2014 · Synced Jul 22, 2026, 2:44 PM EDT
Terminated No phase listed Observational

Optimizing Antiretroviral Therapy in HIV-Infected Children and Adolescents

NCT00207948
View directory record Official record
Conditions
HIV Infections
Interventions
Dose adjustment of Kaletra
Drug
Lead sponsor
Children's National Research Institute
Other
Eligibility
4 Years to 21 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2009
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Aug 4, 2015 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency

NCT01307098
View directory record Official record
Conditions
Cholesterol Ester Storage Disease(CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency
Interventions
Sebelipase alfa 0.35 mg/kg, Sebelipase alfa 1 mg/kg, Sebelipase alfa 3 mg/kg
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
3
States / cities
Stanford, California • New York, New York • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 10, 2018 · Synced Jul 22, 2026, 2:44 PM EDT
Completed Phase 2 Interventional

A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II

NCT00051935
View directory record Official record
Conditions
Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions
Alglucosidase alfa
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003
U.S. locations
1
States / cities
New Brunswick, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 4, 2014 · Synced Jul 22, 2026, 2:44 PM EDT