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ClinicalTrials.gov public records Last synced Sep 7, 2026, 2:37 PM EDT

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Showing 1–24 of 56 matching trials from the live ClinicalTrials.gov search.
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Completed Early Phase 1 Interventional

Burosumab for CSHS

NCT03993821
Conditions
Cutaneous Skeletal Hypophosphatemia Syndrome (CSHS), Epidermal Nevus Syndrome
Interventions
Burosumab
Drug
Lead sponsor
Laura Tosi
Other
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
1
States / cities
Washington D.C., District of Columbia
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
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
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD

NCT02972580
Conditions
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Interventions
Genetic characterization
Genetic
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
18 Years and older · Female only
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2030
U.S. locations
1
States / cities
Columbus, Ohio
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
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
Not listed No phase listed Observational Accepts healthy volunteers

PatientSpot Formerly Known as ArthritisPower

NCT03840928
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
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
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
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
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
Terminated Early Phase 1 Interventional Accepts healthy volunteers

The Study of Skeletal Muscle Blood Flow in Becker Muscular Dystrophy

NCT02653833
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
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
Conditions
Achondroplasia
Interventions
BMN 111, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Up to 59 Months
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
9
States / cities
Oakland, California • Torrance, California • Wilmington, Delaware + 6 more
Conditions
Achondroplasia
Interventions
Infigratinib 0.25 mg/kg/day, Placebo Comparator 0.25 mg/kg/day
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
3 Years to 17 Years
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
7
States / cities
San Francisco, California • Aurora, Colorado • Baltimore, Maryland + 4 more
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
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
Conditions
Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions
Pre-visit prep, usual care + exome seq
Behavioral · Diagnostic Test
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
0 Years and older
Enrollment
548 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
3
States / cities
Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
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
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
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
Recruiting No phase listed Observational Accepts healthy volunteers

Skeletal Health and Bone Marrow Composition in Adolescents With Cystic Fibrosis

NCT06216704
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
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
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