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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Skeletal Anomalies Clear all
Enrolling by invitation Phase 2 Interventional

Extension Study of Infigratinib in Children With Achondroplasia (ACH)

NCT05145010
View directory record Official record
Conditions
Achondroplasia
Interventions
Infigratinib
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
3 Years to 18 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2032
U.S. locations
8
States / cities
Oakland, California • Aurora, Colorado • Wilmington, Delaware + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 30, 2025 · Synced Sep 28, 2026, 5:04 PM EDT
Active, not recruiting No phase listed Observational

Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

NCT01851447
View directory record Official record
Conditions
Genetic Disorder
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years to 99 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 15, 2026 · Synced Sep 28, 2026, 5:04 PM EDT
Active, not recruiting Phase 3 Interventional

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

NCT03424018
View directory record Official record
Conditions
Achondroplasia
Interventions
BMN 111
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
6 Years and older
Enrollment
119 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2031
U.S. locations
11
States / cities
Oakland, California • Torrance, California • Wilmington, Delaware + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 12, 2026 · Synced Sep 28, 2026, 5:04 PM EDT
Active, not recruiting Phase 3 Interventional

Interventional Study of Vosoritide for the Treatment of Children With Hypochondroplasia

NCT06455059
View directory record Official record
Conditions
Hypochondroplasia
Interventions
Vosoritide, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
3 Years to 17 Years
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
4
States / cities
Wilmington, Delaware • Washington D.C., District of Columbia • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Jan 19, 2026 · Synced Sep 28, 2026, 5:04 PM EDT
Recruiting Phase 2 Interventional

Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH)

NCT07169279
View directory record Official record
Conditions
Achondroplasia
Interventions
Infigratinib is provided as a single dose of minitablets for oral administration, Infigratinib is provided as sprinkle capsules for daily oral administration, Infigratinib or placebo comparator is provided as sprinkle capsules for daily oral administration
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
0 Years to 32 Months
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2032
U.S. locations
3
States / cities
Oakland, California • Baltimore, Maryland • Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Sep 28, 2026, 5:04 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 28, 2026, 5:04 PM EDT
Completed No phase listed Observational

Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)

NCT04035811
View directory record Official record
Conditions
Achondroplasia
Interventions
Not listed
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
30 Months to 17 Years
Enrollment
271 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
8
States / cities
Oakland, California • Aurora, Colorado • Wilmington, Delaware + 5 more
Source: ClinicalTrials.gov public record
Updated Apr 2, 2026 · Synced Sep 28, 2026, 5:04 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

PatientSpot Formerly Known as ArthritisPower

NCT03840928
View directory record Official record
Conditions
Rheumatoid Arthritis, Ankylosing Spondylitis, Fibromyalgia, Gout, Crohn Disease, Juvenile Idiopathic Arthritis, Lupus Erythematosus, Myositis, Osteoarthritis, Osteoporosis, Psoriasis, Psoriatic Arthritis, Scleroderma, Dermatomyositis, Inflammatory Bowel Diseases, Polymyositis, Axial Spondyloarthritis, Diffuse Idiopathic Skeletal Hyperostosis, Polymyalgia Rheumatica, Giant Cell Arteritis, Temporal Arteritis, Wegener, Relapsing Polychondritis, Undifferentiated Connective Tissue Disease, Spinal Cord Injuries, Alzheimer Disease, Amyotrophic Lateral Sclerosis, Ataxia, Bell Palsy, Brain Tumor, Cerebral Aneurysm, Epilepsy, Guillain-Barre Syndrome, Headache, Head Injury, Hydrocephalus, Lumbar Disc Disease, Meningitis, Multiple Sclerosis, Muscular Dystrophy, Neurocutaneous Syndromes, Parkinson Disease, Stroke, Cluster Headache, Tension-Type Headache, Chronic Obstructive Pulmonary Disease, Asthma, Lung Cancer, Cystic Fibrosis, Sleep Apnea, Eczema, Alopecia, Chronic Inflammation, Unstable Angina, Heart Attack, Heart Failure, Arrythmia, Valve Heart Disease, High Blood Pressure, Congenital Heart Disease, Peripheral Arterial Disease, Diabetes, Chronic Liver Disease, Obesity
Interventions
Not listed
Lead sponsor
Global Healthy Living Foundation
Other
Eligibility
19 Years and older
Enrollment
40,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2025
U.S. locations
1
States / cities
Upper Nyack, New York
Source: ClinicalTrials.gov public record
Updated Dec 12, 2023 · Synced Sep 28, 2026, 5:04 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 28, 2026, 5:04 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 28, 2026, 5:04 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 28, 2026, 5:04 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 28, 2026, 5:04 PM EDT
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 28, 2026, 5:04 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 28, 2026, 5:04 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 28, 2026, 5:04 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 Jun 14, 2026 · Synced Sep 28, 2026, 5:04 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 28, 2026, 5:04 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 28, 2026, 5:04 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 28, 2026, 5:04 PM EDT
Active, not recruiting Phase 2 Interventional

An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia

NCT03989947
View directory record Official record
Conditions
Achondroplasia
Interventions
Active BMN 111: Subcutaneous injection of recommended dose of BMN 111 based on weight-band dosing once daily.
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
15 Months and older
Enrollment
73 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2038
U.S. locations
9
States / cities
Oakland, California • Torrance, California • Wilmington, Delaware + 6 more
Source: ClinicalTrials.gov public record
Updated Mar 12, 2026 · Synced Sep 28, 2026, 5:04 PM EDT
Completed No phase listed Observational

A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)

NCT06064656
View directory record Official record
Conditions
Fibrodysplasia Ossificans Progressiva (FOP)
Interventions
Non-Interventional
Other
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
Not listed
Enrollment
131 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023
U.S. locations
1
States / cities
Tarrytown, New York
Source: ClinicalTrials.gov public record
Updated Jul 2, 2025 · Synced Sep 28, 2026, 5:04 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 28, 2026, 5:04 PM EDT
Recruiting No phase listed Observational

Prospective Clinical Assessment Study in Children With Hypochondroplasia

NCT06410976
View directory record Official record
Conditions
Hypochondroplasia
Interventions
Not listed
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
30 Months to 16 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
8
States / cities
Oakland, California • Aurora, Colorado • Washington D.C., District of Columbia + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 15, 2026 · Synced Sep 28, 2026, 5:04 PM EDT
Recruiting Phase 4 Interventional

GLP-1R Actions on Muscle and the Skeleton

NCT07154719
View directory record Official record
Conditions
Musculoskeletal Abnormalities, Obesity, Sarcopenic Obesity, Osteoporosis, Drug Effect
Interventions
Tirzepatide, Lifestyle toolkit
Drug · Behavioral
Lead sponsor
Pennington Biomedical Research Center
Other
Eligibility
18 Years to 50 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
2
States / cities
Baton Rouge, Louisiana • Scarborough, Maine
Source: ClinicalTrials.gov public record
Updated Aug 26, 2026 · Synced Sep 28, 2026, 5:04 PM EDT