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ClinicalTrials.gov public records Last synced Sep 8, 2026, 8:36 PM EDT

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Showing 1–24 of 56 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Skeletal Anomalies Clear all
Completed Phase 3 Interventional Results available

Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets

NCT00417612
View directory record Official record
Conditions
Hypophosphatemia, Familial, Hyperparathyroidism
Interventions
Paricalcitol, Placebo
Drug · Other
Lead sponsor
Yale University
Other
Eligibility
9 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Mar 16, 2020 · Synced Sep 8, 2026, 8:36 PM EDT
Completed Phase 2 Interventional Results available

(-)- Epicatechin Becker Muscular Dystrophy

NCT03236662
View directory record Official record
Conditions
Becker Muscular Dystrophy
Interventions
(-)-Epicatechin
Drug
Lead sponsor
Craig McDonald, MD
Other
Eligibility
18 Years to 70 Years · Male only
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Nov 23, 2021 · Synced Sep 8, 2026, 8:36 PM EDT
Recruiting No phase listed Observational

Non-invasive Functional Assessment and Pathogenesis of Morquio A

NCT05284006
View directory record Official record
Conditions
Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA
Interventions
Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.
Diagnostic Test
Lead sponsor
Nemours Children's Clinic
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Wilmington, Delaware
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced Sep 8, 2026, 8:36 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Use of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study)

NCT01856868
View directory record Official record
Conditions
Becker Muscular Dystrophy
Interventions
(-)-epicatechin
Drug
Lead sponsor
Craig McDonald, MD
Other
Eligibility
18 Years to 60 Years · Male only
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2018
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Dec 21, 2021 · Synced Sep 8, 2026, 8:36 PM EDT
Completed No phase listed Observational

Study of Skeletal Disorders and Short Stature

NCT00001754
View directory record Official record
Conditions
Developmental Bone Disease, Dwarfism, Skeletal Dysplasias
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 8, 2026, 8:36 PM EDT
Terminated Early Phase 1 Interventional Accepts healthy volunteers

The Study of Skeletal Muscle Blood Flow in Becker Muscular Dystrophy

NCT02653833
View directory record Official record
Conditions
Muscular Dystrophy
Interventions
Tadalafil 20 MG, beetroot juice extract
Drug · Other
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
18 Years to 45 Years · Male only
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jan 13, 2020 · Synced Sep 8, 2026, 8:36 PM EDT
Terminated Early Phase 1 Interventional

A Pilot Study of Pyridostigmine in Pompe Disease

NCT02357225
View directory record Official record
Conditions
Pompe Disease
Interventions
Pyridostigmine Bromide
Drug
Lead sponsor
University of Florida
Other
Eligibility
8 Years to 60 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated May 14, 2018 · Synced Sep 8, 2026, 8:36 PM EDT
Completed No phase listed Observational

Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care

NCT01431326
View directory record Official record
Conditions
Adenovirus, Anesthesia, Anxiety, Anxiolysis, Autism, Autistic Disorder, Bacterial Meningitis, Bacterial Septicemia, Benzodiazepine, Bipolar Disorder, Bone and Joint Infections, Central Nervous System Infections, Convulsions, Cytomegalovirus Retinitis, Early-onset Schizophrenia Spectrum Disorders, Epilepsy, General Anesthesia, Gynecologic Infections, Herpes Simplex Virus, Infantile Hemangioma, Infection, Inflammation, Inflammatory Conditions, Intra-abdominal Infections, Lower Respiratory Tract Infections, Migraines, Pain, Pneumonia, Schizophrenia, Sedation, Seizures, Skeletal Muscle Spasms, Skin and Skin-structure Infections, Treatment-resistant Schizophrenia, Urinary Tract Infections, Withdrawal, Sepsis, Gram-negative Infection, Bradycardia, Cardiac Arrest, Cardiac Arrhythmia, Staphylococcal Infections, Nosocomial Pneumonia, Neuromuscular Blockade, Methicillin Resistant Staphylococcus Aureus, Endocarditis, Neutropenia, Headache, Fibrinolytic Bleeding, Pulmonary Arterial Hypertension, CMV Retinitis, Hypertension, Chronic Kidney Diseases, Hyperaldosteronism, Hypokalemia, Heart Failure, Hemophilia, Heavy Menstrual Bleeding, Insomnia
Interventions
The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:
Drug
Lead sponsor
Daniel Benjamin
Other
Eligibility
Up to 21 Years
Enrollment
3,520 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
43
States / cities
Anchorage, Alaska • Little Rock, Arkansas • La Jolla, California + 37 more
Source: ClinicalTrials.gov public record
Updated Sep 5, 2023 · Synced Sep 8, 2026, 8:36 PM EDT
Enrolling by invitation Phase 2 Interventional

Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia

NCT07393373
View directory record Official record
Conditions
Hypochondroplasia
Interventions
Infigratinib
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
3 Years to 18 Years
Enrollment
135 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
8
States / cities
Oakland, California • Aurora, Colorado • Washington D.C., District of Columbia + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Sep 8, 2026, 8:36 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Skeletal Health and Bone Marrow Composition in Adolescents With Cystic Fibrosis

NCT06216704
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Magnetic resonance relaxometry, Magnetic resonance spectroscopy, Blood Draw, DXA, pQCT
Diagnostic Test
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
13 Years to 20 Years
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2029
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 29, 2025 · Synced Sep 8, 2026, 8:36 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Evaluation and Management of Metabolic Bone Disease in Kidney Transplant Recipients

NCT03958409
View directory record Official record
Conditions
Skeletal Anomalies, Kidney Transplant; Complications
Interventions
measurements to evaluate metabolic bone disease, standard care
Diagnostic Test
Lead sponsor
Yale University
Other
Eligibility
30 Years to 65 Years
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2021
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Feb 27, 2023 · Synced Sep 8, 2026, 8:36 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 1, 2020 · Synced Sep 8, 2026, 8:36 PM EDT
Completed Phase 2 Interventional

Study of Infigratinib in Children With Achondroplasia

NCT04265651
View directory record Official record
Conditions
Achondroplasia
Interventions
Infigratinib 0.016 mg/kg, Infigratinib 0.032 mg/kg, Infigratinib 0.064 mg/kg, Infigratinib 0.128 mg/kg, Infigratinib 0.25 mg/kg
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
3 Years to 11 Years
Enrollment
84 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
5
States / cities
Oakland, California • Wilmington, Delaware • Baltimore, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 21, 2025 · Synced Sep 8, 2026, 8:36 PM EDT
Completed Not applicable Interventional Results available

Inflammatory Abnormalities in Muscle After Stroke: Effects of Exercise

NCT00387712
View directory record Official record
Conditions
Stroke, Inflammation
Interventions
Velocity based treadmill training, Duration based treadmill training
Other
Lead sponsor
VA Office of Research and Development
Federal
Eligibility
40 Years to 80 Years
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2014
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 13, 2017 · Synced Sep 8, 2026, 8:36 PM EDT
Completed No phase listed Observational

Genetic Analysis of the Chiari I Malformation

NCT00004738
View directory record Official record
Conditions
Syringomyelia, Type I Arnold Chiari Malformation
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
1 Year and older
Enrollment
152 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 7, 2026 · Synced Sep 8, 2026, 8:36 PM EDT
Completed No phase listed Observational

Studying Skeletal Muscle, Heart, and Diaphragm Imaging in Boys With Duchenne Muscular Dystrophy

NCT01451281
View directory record Official record
Conditions
Muscular Dystrophy, Muscular Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
5 Years to 17 Years · Male only
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 21, 2019 · Synced Sep 8, 2026, 8:36 PM EDT
Terminated No phase listed Observational

Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics

NCT01675674
View directory record Official record
Conditions
Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
Interventions
Dried blood spot test for MPS
Other
Lead sponsor
National MPS Society
Other
Eligibility
6 Months to 18 Years
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
2
States / cities
New Brunswick, New Jersey • New York, New York
Source: ClinicalTrials.gov public record
Updated May 23, 2013 · Synced Sep 8, 2026, 8:36 PM EDT
Terminated Phase 2 Interventional Results available

Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia

NCT05116046
View directory record Official record
Conditions
Achondroplasia
Interventions
Recifercept
Biological
Lead sponsor
Pfizer
Industry
Eligibility
15 Months to 12 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
6
States / cities
Irvine, California • Long Beach, California • Torrance, California + 2 more
Source: ClinicalTrials.gov public record
Updated Feb 7, 2024 · Synced Sep 8, 2026, 8:36 PM EDT
Completed Phase 3 Interventional Results available

A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia

NCT03197766
View directory record Official record
Conditions
Achondroplasia
Interventions
BMN 111, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
5 Years to 18 Years
Enrollment
121 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
11
States / cities
Oakland, California • Torrance, California • Wilmington, Delaware + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 1, 2022 · Synced Sep 8, 2026, 8:36 PM EDT
Withdrawn Phase 4 Interventional

The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease

NCT02528617
View directory record Official record
Conditions
Gaucher Disease Type 1, Gaucher Disease Type 3
Interventions
Velaglucerase alfa
Drug
Lead sponsor
Baylor Research Institute
Other
Eligibility
4 Years to 14 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 1, 2018 · Synced Sep 8, 2026, 8:36 PM EDT
Completed No phase listed Observational

Heart and Skeletal Muscle Problems in Neuroacanthocytosis

NCT00007228
View directory record Official record
Conditions
Choreatic Disorder
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 8, 2026, 8:36 PM EDT
Completed Not applicable Interventional Results available

Clinical Utility of Prenatal Whole Exome Sequencing

NCT03482141
View directory record Official record
Conditions
Structural Anomalies, Cardiac Anomalies, Central Nervous System Anomalies, Thorax Anomalies, Genito-urinary Anomalies, Gastrointestinal Anomalies, Skeletal Anomalies, Multiple Anomalies
Interventions
Whole Exome Sequencing (WES)
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 64 Years · Female only
Enrollment
316 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 13, 2023 · Synced Sep 8, 2026, 8:36 PM EDT
Not listed Phase 1 Interventional

Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B

NCT03882437
View directory record Official record
Conditions
Danon Disease
Interventions
RP-A501
Biological
Lead sponsor
Rocket Pharmaceuticals Inc.
Industry
Eligibility
8 Years and older · Male only
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
3
States / cities
La Jolla, California • Aurora, Colorado • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 2, 2023 · Synced Sep 8, 2026, 8:36 PM EDT
Recruiting No phase listed Observational

Advancing Integrated Therapies for Gaucher Disease

NCT07758816
View directory record Official record
Conditions
Gaucher Disease
Interventions
Not listed
Lead sponsor
Yale University
Other
Eligibility
3 Months to 75 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Aug 10, 2026 · Synced Sep 8, 2026, 8:36 PM EDT