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ClinicalTrials.gov public records Last synced Sep 13, 2026, 9:26 AM EDT

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Showing 1–24 of 2,398 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Inherited Metabolic Disorder Clear all
Active, not recruiting Phase 4 Interventional

Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy

NCT05003648
View directory record Official record
Conditions
Adrenoleukodystrophy, Restless Legs Syndrome
Interventions
Pramipexole, Placebo
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 75 Years · Female only
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Sep 13, 2026, 9:26 AM EDT
Completed No phase listed Observational Results available

Neurology Measures in FA Children

NCT03418740
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
2 Years to 18 Years
Enrollment
108 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
3
States / cities
Los Angeles, California • Gainesville, Florida • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 15, 2025 · Synced Sep 13, 2026, 9:26 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

The Influence of Different Mood States and Emotions on the Physiologic, Metabolic, and Perceptual Responses to Feeding Before Exercise

NCT05217589
View directory record Official record
Conditions
Other Gastrointestinal Disorders, Cramp, Abdominal
Interventions
Funny/Amusing Video Clips, Horror/Scary Video Clips, Thrilling/Suspenseful Video Clips
Other
Lead sponsor
Old Dominion University
Other
Eligibility
18 Years to 55 Years
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
Norfolk, Virginia
Source: ClinicalTrials.gov public record
Updated Mar 19, 2025 · Synced Sep 13, 2026, 9:26 AM EDT
No Longer Available No phase listed Expanded access

Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease

NCT00962260
View directory record Official record
Conditions
Gaucher Disease
Interventions
Plant cell expressed recombinant glucocerebrosidase (prGCD)
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
U.S. locations
14
States / cities
La Jolla, California • Aurora, Colorado • Coral Springs, Florida + 11 more
Source: ClinicalTrials.gov public record
Updated Sep 6, 2018 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Phase 1 Interventional Results available

Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia

NCT01898884
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
VP 20629, Placebo
Drug
Lead sponsor
Shire
Industry
Eligibility
18 Years to 45 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
5
States / cities
Los Angeles, California • Tampa, Florida • Atlanta, Georgia + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 1, 2021 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Phase 2 Interventional Results available

Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP)

NCT01205152
View directory record Official record
Conditions
Hypophosphatasia
Interventions
asfotase alfa
Biological
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
24 Weeks to 42 Months
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2016
U.S. locations
5
States / cities
Wilmington, Delaware • Springfield, Missouri • Omaha, Nebraska + 2 more
Source: ClinicalTrials.gov public record
Updated Mar 12, 2019 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Phase 2 Interventional

A Study of Persons With Gout Who Do Not Respond to or Are Allergic to Conventional Therapy

NCT00080210
View directory record Official record
Conditions
Gout
Interventions
Puricase
Drug
Lead sponsor
Savient Pharmaceuticals
Industry
Eligibility
18 Years to 90 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2005
U.S. locations
9
States / cities
Birmingham, Alabama • La Jolla, California • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 2, 2013 · Synced Sep 13, 2026, 9:26 AM EDT
Withdrawn Phase 2 Interventional

High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease

NCT01656590
View directory record Official record
Conditions
Glycogen Storage Disease Type II
Interventions
High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
Other
Lead sponsor
Columbia University
Other
Eligibility
8 Years to 17 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 12, 2015 · Synced Sep 13, 2026, 9:26 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Quantitative Susceptibility Mapping (QSM) to Guide Iron Chelating Therapy

NCT04171635
View directory record Official record
Conditions
MRI Scans
Interventions
Quantitative Susceptibility Mapping (QSM) Magnetic Resonance Imaging (MRI), R2* Magnetic Resonance Imaging (MRI)
Radiation
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
2 Years and older
Enrollment
55 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2025
U.S. locations
2
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 26, 2026 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Phase 2 Interventional Results available

Stem Cell Transplant w/Laronidase for Hurler

NCT00176891
View directory record Official record
Conditions
Mucopolysaccharidosis I, Hurler Syndrome
Interventions
Stem Cell Transplant, Laronidase ERT
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 7 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2012
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 10, 2019 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Pregabalin and Colonic Function

NCT01094808
View directory record Official record
Conditions
Healthy
Interventions
Pregabalin, Placebo, Bowel preparation
Drug · Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years to 75 Years
Enrollment
62 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2011
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 6, 2012 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Phase 3 Interventional Results available

A Two-Period Open-label Trial Evaluating Efficacy and Safety of Dasiglucagon in Children With Congenital Hyperinsulinism

NCT03777176
View directory record Official record
Conditions
Congenital Hyperinsulinism
Interventions
Dasiglucagon, Standard of Care
Drug · Other
Lead sponsor
Zealand Pharma
Industry
Eligibility
3 Months to 12 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
3
States / cities
Aurora, Colorado • Philadelphia, Pennsylvania • Fort Worth, Texas
Source: ClinicalTrials.gov public record
Updated Dec 12, 2023 · Synced Sep 13, 2026, 9:26 AM EDT
Terminated Phase 1 Interventional Accepts healthy volunteers

Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT

NCT00586274
View directory record Official record
Conditions
FANCONI ANEMIA
Interventions
CD34 selected haploidentical PBSCT, Fludarabine, T cell infusion, Campath 1h, anti-CD45
Procedure · Drug · Biological
Lead sponsor
Baylor College of Medicine
Other
Eligibility
Up to 64 Years
Enrollment
1 participant
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2009
U.S. locations
2
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 3, 2014 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia

NCT00519818
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficiency, Adrenogenital Syndrome
Interventions
Chronocort, Cortef
Drug
Lead sponsor
Neurocrine UK Limited
Industry
Eligibility
16 Years to 60 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 25, 2022 · Synced Sep 13, 2026, 9:26 AM EDT
Recruiting Phase 2 Interventional

Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT

NCT01962415
View directory record Official record
Conditions
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias, Inflammatory Conditions, Systemic Juvenile Idiopathic Arthritis (sJIA), Juvenile Rheumatoid Arthritis (JRA)
Interventions
Hydroxyurea, Alemtuzumab, Fludarabine, Melphalan, Thiotepa
Drug
Lead sponsor
Paul Szabolcs
Other
Eligibility
2 Months to 55 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2027
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 14, 2025 · Synced Sep 13, 2026, 9:26 AM EDT
Recruiting No phase listed Observational

Natural History Study of Parathyroid Disorders

NCT04969926
View directory record Official record
Conditions
Parathyroid Cancer, Primary Hyperparathyroidism, Pseudohypoparathyroidism, Inheritable Bone Diseases, Multiple Endocrine Neoplasia, Type 1
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
6 Months to 100 Years
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2031
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 10, 2026 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Not applicable Interventional Results available

VasQ External Support for Arteriovenous Fistula

NCT03242343
View directory record Official record
Conditions
Arterio-Venous Fistula, ESRD, Steal Syndrome, Aneurysm, Renal Failure, Renal Disease, Diabetes Mellitus, Kidney Failure
Interventions
VasQ
Device
Lead sponsor
Laminate Medical Technologies
Industry
Eligibility
18 Years to 80 Years
Enrollment
144 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
15
States / cities
Birmingham, Alabama • Phoenix, Arizona • Peoria, Illinois + 11 more
Source: ClinicalTrials.gov public record
Updated May 26, 2026 · Synced Sep 13, 2026, 9:26 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy

NCT04378075
View directory record Official record
Conditions
Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome, Mitochondrial Encephalopathy (MELAS), Pontocerebellar Hypoplasia Type 6 (PCH6), Alpers Disease, Alpers Syndrome
Interventions
Vatiquinone, Placebo
Drug · Other
Lead sponsor
PTC Therapeutics
Industry
Eligibility
Up to 20 Years
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
12
States / cities
San Diego, California • Stanford, California • New Haven, Connecticut + 7 more
Source: ClinicalTrials.gov public record
Updated Mar 30, 2026 · Synced Sep 13, 2026, 9:26 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

High-Tc Susceptometer to Monitor Transfusional Iron Overload

NCT01241357
View directory record Official record
Conditions
Transfusional Iron Overload, Thalassemia Major, Sickle Cell Disease, Myelodysplastic Syndromes, Aplastic Anemia
Interventions
Hepatic biomagnetic susceptibility measurement
Device
Lead sponsor
Columbia University
Other
Eligibility
5 Years to 80 Years
Enrollment
99 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2016
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 20, 2016 · Synced Sep 13, 2026, 9:26 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Allergy and Immunology Natural History Study

NCT05584488
View directory record Official record
Conditions
Immune Deficiency, Immune Dysregulation Disorder, Allergic Inflammation
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Up to 99 Years
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 3, 2026 · Synced Sep 13, 2026, 9:26 AM EDT
Active, not recruiting No phase listed Observational

Cerliponase Alfa Observational Study in the US

NCT04476862
View directory record Official record
Conditions
Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Interventions
Cerliponase Alfa, Administration Kit
Drug · Device
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
16
States / cities
Little Rock, Arkansas • Orange, California • Aurora, Colorado + 12 more
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Sep 13, 2026, 9:26 AM EDT
Completed Early Phase 1 Interventional

Baclofen Treatment of Ataxia Telangiectasia

NCT00640003
View directory record Official record
Conditions
Ataxia Telangiectasia
Interventions
Baclofen, Placebo
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
12 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2011
U.S. locations
2
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 19, 2017 · Synced Sep 13, 2026, 9:26 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Analysis of Lumbar Spine Stenosis Specimens for Identification of Transthyretin Cardiac Amyloidosis

NCT06034405
View directory record Official record
Conditions
Lumbar Spinal Stenosis, Cardiac Amyloidosis, ATTR Amyloidosis Wild Type, ATTR Gene Mutation, ATTRV122I Amyloidosis, Cardiomyopathy, Hypertrophic
Interventions
Tc99-PYP or Tc99-HDMP Scan
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
50 Years and older
Enrollment
1,663 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2028
U.S. locations
6
States / cities
Beverly Hills, California • Boston, Massachusetts • Rochester, Minnesota + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 3, 2026 · Synced Sep 13, 2026, 9:26 AM EDT
Completed No phase listed Observational

Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products

NCT00695279
View directory record Official record
Conditions
Severe Combined Immunodeficiency, Malignancy, Hematologic, Neuroblastoma, Neoplasm, Mucopolysaccharidosis I
Interventions
Venipuncture
Procedure
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
41 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2024
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Oct 29, 2024 · Synced Sep 13, 2026, 9:26 AM EDT