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ClinicalTrials.gov public records Last synced Oct 29, 2026, 10:23 PM EDT

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Showing 601–624 of 2,425 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Metabolic Abnormalities Clear all
Recruiting No phase listed Observational

Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

NCT04948658
View directory record Official record
Conditions
Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia, Variations in Sex Characteristics, Differences in Sex Development
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 35 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 22, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Phase 3 Interventional Results available

ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP)

NCT03338816
View directory record Official record
Conditions
Acute Hepatic Porphyria, Acute Intermittent Porphyria, Porphyria, Acute Intermittent, Acute Porphyria, Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), ALA Dehydratase Deficient Porphyria (ADP)
Interventions
Givosiran, Placebo
Drug
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
94 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
10
States / cities
Little Rock, Arkansas • San Francisco, California • Boston, Massachusetts + 7 more
Source: ClinicalTrials.gov public record
Updated Apr 22, 2024 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Not applicable Interventional

Improving Diagnosis and Clinical Management of Familial Hypercholesterolemia Through Integrated Machine Learning, Implementation Science, and Behavioral Economics

NCT05746247
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Testing centralized referral mechanism for PCPs, Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation
Behavioral
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
610 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 20, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Completed No phase listed Observational

Study of Smith-Lemli-Opitz Syndrome

NCT00001721
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Cholesterol Suspension, CRH, Cholesterol
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 29, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Early Phase 1 Interventional

Preventing Speech and Language Disorders in Children With Classic Galactosemia

NCT03838016
View directory record Official record
Conditions
Classic Galactosemia, Speech Disorders in Children, Language Disorders in Children
Interventions
Babble Boot Camp
Behavioral
Lead sponsor
Arizona State University
Other
Eligibility
2 Months to 54 Months
Enrollment
285 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Tempe, Arizona
Source: ClinicalTrials.gov public record
Updated Jan 23, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Phase 1Phase 2 Interventional

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

NCT00730314
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 23, 2016 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Nitisinone for Type 1B Oculocutaneous Albinism

NCT01838655
View directory record Official record
Conditions
Albinism, Vision Loss
Interventions
Nitisinone
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 26, 2019 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Early Phase 1 Interventional

Rosuvastatin (Crestor) in Friedreich Ataxia

NCT02705547
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Rosuvastatin
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
18 Years to 65 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 25, 2021 · Synced Oct 29, 2026, 10:23 PM EDT
Terminated Phase 1 Interventional

Safety and Pharmacokinetic Study of Escalating Doses of SP-420, an Iron Chelator, in Patients With β-Thalassemia

NCT02274233
View directory record Official record
Conditions
Iron Overload, Beta-Thalassemia
Interventions
SP-420
Drug
Lead sponsor
Sideris Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
3
States / cities
Boston, Massachusetts • New York, New York • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 29, 2015 · Synced Oct 29, 2026, 10:23 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Heart and Muscle Metabolism in Barth Syndrome

NCT01625663
View directory record Official record
Conditions
Barth Syndrome
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
8 Years to 35 Years · Male only
Enrollment
64 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2020
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Jun 2, 2020 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Not applicable Interventional

A Randomized, Controlled Study of the Safety and Preventive Efficacy of Oral Ganciclovir When Used in Conjunction With An Intravitreal Ganciclovir Implant in the Treatment of Cytomegalovirus Retinitis

NCT00002134
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Roche Global Development
Other
Eligibility
13 Years and older
Enrollment
450 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
23
States / cities
Beverly Hills, California • Irvine, California • Los Angeles, California + 16 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Phase 1 Interventional

Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy

NCT00890747
View directory record Official record
Conditions
Accelerated Phase Chronic Myelogenous Leukemia, Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome, Acute Undifferentiated Leukemia, Adult Acute Lymphoblastic Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), Adult Grade III Lymphomatoid Granulomatosis, Adult Langerhans Cell Histiocytosis, Adult Nasal Type Extranodal NK/T-cell Lymphoma, Aggressive NK-cell Leukemia, AIDS-related Diffuse Large Cell Lymphoma, AIDS-related Diffuse Mixed Cell Lymphoma, AIDS-related Diffuse Small Cleaved Cell Lymphoma, AIDS-related Immunoblastic Large Cell Lymphoma, AIDS-related Lymphoblastic Lymphoma, AIDS-related Malignancies, AIDS-related Small Noncleaved Cell Lymphoma, Anaplastic Large Cell Lymphoma, Angioimmunoblastic T-cell Lymphoma, Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative, Chronic Eosinophilic Leukemia, Chronic Myelomonocytic Leukemia, Chronic Neutrophilic Leukemia, Chronic Phase Chronic Myelogenous Leukemia, Clear Cell Renal Cell Carcinoma, Cutaneous B-cell Non-Hodgkin Lymphoma, de Novo Myelodysplastic Syndromes, Essential Thrombocythemia, Extramedullary Plasmacytoma, Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue, Hepatosplenic T-cell Lymphoma, HIV Infection, HIV-associated Hodgkin Lymphoma, Intraocular Lymphoma, Isolated Plasmacytoma of Bone, Light Chain Deposition Disease, Mast Cell Leukemia, Myelodysplastic Syndrome With Isolated Del(5q), Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable, Myeloid/NK-cell Acute Leukemia, Nodal Marginal Zone B-cell Lymphoma, Noncutaneous Extranodal Lymphoma, Osteolytic Lesions of Multiple Myeloma, Peripheral T-cell Lymphoma, Plasma Cell Neoplasm, Polycythemia Vera, Post-transplant Lymphoproliferative Disorder, Previously Treated Myelodysplastic Syndromes, Primary Myelofibrosis, Primary Systemic Amyloidosis, Progressive Hairy Cell Leukemia, Initial Treatment, Prolymphocytic Leukemia, Recurrent Adult Acute Lymphoblastic Leukemia, Recurrent Adult Acute Myeloid Leukemia, Recurrent Adult Burkitt Lymphoma, Recurrent Adult Diffuse Large Cell Lymphoma, Recurrent Adult Diffuse Mixed Cell Lymphoma, Recurrent Adult Diffuse Small Cleaved Cell Lymphoma, Recurrent Adult Grade III Lymphomatoid Granulomatosis, Recurrent Adult Hodgkin Lymphoma, Recurrent Adult Immunoblastic Large Cell Lymphoma, Recurrent Adult Lymphoblastic Lymphoma, Recurrent Adult T-cell Leukemia/Lymphoma, Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma, Recurrent Grade 1 Follicular Lymphoma, Recurrent Grade 2 Follicular Lymphoma, Recurrent Grade 3 Follicular Lymphoma, Recurrent Mantle Cell Lymphoma, Recurrent Marginal Zone Lymphoma, Recurrent Mycosis Fungoides/Sezary Syndrome, Recurrent Renal Cell Cancer, Recurrent Small Lymphocytic Lymphoma, Refractory Chronic Lymphocytic Leukemia, Refractory Hairy Cell Leukemia, Refractory Multiple Myeloma, Relapsing Chronic Myelogenous Leukemia, Stage IV Renal Cell Cancer, T-cell Large Granular Lymphocyte Leukemia, Testicular Lymphoma, Unspecified Adult Solid Tumor, Protocol Specific, Waldenström Macroglobulinemia
Interventions
sunitinib malate, pharmacological study, laboratory biomarker analysis
Drug · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
11
States / cities
Los Angeles, California • Washington D.C., District of Columbia • Chicago, Illinois + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 17, 2014 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Comparing Intermittent Fasting, Clean Ketogenic Diet, and Their Combined Effects on Body Composition, Cardiometabolic Markers, and Metabolic Health

NCT07659093
View directory record Official record
Conditions
Healthy, Ketogen-based Therapeutic Diet, Metabolic Abnormalities
Interventions
Diet
Other
Lead sponsor
The University of Tennessee at Martin
Other
Eligibility
18 Years and older
Enrollment
79 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2025
U.S. locations
1
States / cities
Martin, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Phase 3 Interventional Results available

Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients

NCT01114737
View directory record Official record
Conditions
Phenylketonuria
Interventions
Sapropterin dihydrochloride, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
8 Years to 65 Years
Enrollment
206 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
26
States / cities
La Jolla, California • Los Angeles, California • Palo Alto, California + 23 more
Source: ClinicalTrials.gov public record
Updated Feb 1, 2016 · Synced Oct 29, 2026, 10:23 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Tissue Sample Study for Mitochondrial Disorders

NCT01803906
View directory record Official record
Conditions
Mitochondrial Disorders, Mitochondrial Disease, Melas, Kearns Sayer, NARP, MNGIE, LHON, Mitochondrial Depletion Syndrome, Leigh's Disease
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Not listed
Enrollment
6,900 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Completed No phase listed Observational

Genzyme Osteopenia/Osteoporosis Study

NCT02785744
View directory record Official record
Conditions
Gaucher Disease
Interventions
Gaucher disease DNA mutation analysis
Other
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years and older
Enrollment
76 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 23, 2021 · Synced Oct 29, 2026, 10:23 PM EDT
Recruiting No phase listed Observational

RCDP Natural History Study

NCT04031287
View directory record Official record
Conditions
Rhizomelic Chondrodysplasia Punctata
Interventions
Not listed
Lead sponsor
MED-LIFE DISCOVERIES LP
Industry
Eligibility
6 Months to 21 Years
Enrollment
75 participants
Timeline
2019 – 2027
U.S. locations
1
States / cities
Wilmington, Delaware
Source: ClinicalTrials.gov public record
Updated Oct 9, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Terminated No phase listed Observational

Kidney Information Network for Disease Research and Education

NCT03321604
View directory record Official record
Conditions
ESRD, Fabry Disease, Rare Diseases, Kidney Diseases, End Stage Renal Disease, Genetic Diseases, X-Linked
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 65 Years
Enrollment
338 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 24, 2021 · Synced Oct 29, 2026, 10:23 PM EDT
Completed No phase listed Observational

PheCheck Feasibility Study

NCT05998109
View directory record Official record
Conditions
Phenylketonurias
Interventions
PheCheck™, HPLC Amino Acid Analyzer, Dried Blood Spot Cards
Device · Diagnostic Test
Lead sponsor
Lumos Diagnostics
Industry
Eligibility
10 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 15, 2025 · Synced Oct 29, 2026, 10:23 PM EDT
Active, not recruiting Phase 3 Interventional

A Phase 3 Study of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)

NCT07037771
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
zodasiran Injection, Placebo
Drug
Lead sponsor
Arrowhead Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
4
States / cities
Park Ridge, Illinois • New York, New York • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 12, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease

NCT00976352
View directory record Official record
Conditions
Pompe Disease
Interventions
rAAV1-CMV-GAA (study agent) Administration, RMST
Drug · Other
Lead sponsor
University of Florida
Other
Eligibility
2 Years to 18 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2015
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Sep 14, 2018 · Synced Oct 29, 2026, 10:23 PM EDT
Active, not recruiting No phase listed Observational

ET1 Concentration, Metabolic Pathway Activation, and Pulmonary Blood Flow in Infants Undergoing Superior Cavo-Pulmonary Anastomosis

NCT03404258
View directory record Official record
Conditions
Single-ventricle, Pulmonary Vascular Resistance Abnormality, Superior Cavo-Pulmonary Anastomosis, Endothelin, Metabolomics
Interventions
Research Blood Sampling
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
1 Month to 2 Years
Enrollment
50 participants
Timeline
2018 – 2027
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated May 1, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Evaluation and Treatment of Patients With Connective Tissue Disease

NCT00076830
View directory record Official record
Conditions
Connective Tissue Disorders, Osteogenesis Imperfecta, Bone Diseases, Metabolic, Melorheostosis
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Up to 70 Years
Enrollment
180 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 29, 2026 · Synced Oct 29, 2026, 10:23 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Folic Acid Salt Study (FISFA Zambia)

NCT06734611
View directory record Official record
Conditions
Folate Deficiency, Neural Tube Defects
Interventions
Fortified Iodized Salt with Folic Acid (FISFA)
Dietary Supplement
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
18 Years to 45 Years · Female only
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2028
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Oct 29, 2026, 10:23 PM EDT