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ClinicalTrials.gov public records Last synced Oct 20, 2026, 5:38 PM EDT

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Showing 1–24 of 157 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Skeletal Dysplasia Clear all
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease

NCT02504879
View directory record Official record
Conditions
Rheumatic Disease
Interventions
Not listed
Lead sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
Eligibility
18 Years to 90 Years
Enrollment
350 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Active, not recruiting Phase 3 Interventional

Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta

NCT05768854
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Bisphosphonate, Setrusumab
Drug · Biological
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
2 Years to 6 Years
Enrollment
69 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
13
States / cities
Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 10 more
Source: ClinicalTrials.gov public record
Updated Oct 20, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Completed Phase 2 Interventional Results available

Burosumab for Fibroblast Growth Factor-23 Mediated Hypophosphatemia in Fibrous Dysplasia

NCT05509595
View directory record Official record
Conditions
Fibrous Dysplasia Of Bone
Interventions
Burosumab
Drug
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
1 Year to 99 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 2, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Recruiting No phase listed Observational

Longitudinal Study of Neurodegenerative Disorders

NCT03333200
View directory record Official record
Conditions
MLD, Krabbe Disease, ALD, MPS I, MPS II, MPS III, Vanishing White Matter Disease, GM3 Gangliosidosis, PKAN, Tay-Sachs Disease, NP Deficiency, Osteopetrosis, Alpha-Mannosidosis, Sandhoff Disease, Niemann-Pick Diseases, MPS IV, Gaucher Disease, GAN, GM1 Gangliosidoses, Morquio Disease, S-Adenosylhomocysteine Hydrolase Deficiency, Batten Disease, Pelizaeus-Merzbacher Disease, Leukodystrophy, Lysosomal Storage Diseases, Purine Nucleoside Phosphorylase Deficiency, Multiple Sulfatase Deficiency Disease
Interventions
Palliative Care, Hematopoetic Stem Cell Transplantation
Other · Biological
Lead sponsor
University of Pittsburgh
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2035
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 9, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Study of Skeletal Disorders

NCT05031507
View directory record Official record
Conditions
Skeletal Disorders
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Months to 100 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 20, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Active, not recruiting Phase 2 Interventional

A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH)

NCT02724228
View directory record Official record
Conditions
Achondroplasia
Interventions
BMN 111
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
7 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2028
U.S. locations
6
States / cities
Oakland, California • Torrance, California • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Mar 13, 2026 · Synced Oct 20, 2026, 5:38 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 Oct 1, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Completed Phase 2 Interventional

Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta

NCT00131118
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Zoledronic Acid
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
1 Year to 17 Years
Enrollment
127 participants
Timeline
2004 – 2007
U.S. locations
10
States / cities
Los Angeles, California • Wilmington, Delaware • Boise, Idaho + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 1, 2017 · Synced Oct 20, 2026, 5:38 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers

NCT01590446
View directory record Official record
Conditions
Achondroplasia
Interventions
BMN 111, Normal Saline
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
22 Years to 45 Years · Male only
Enrollment
74 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012
U.S. locations
1
States / cities
Evansville, Indiana
Source: ClinicalTrials.gov public record
Updated Jun 11, 2012 · Synced Oct 20, 2026, 5:38 PM EDT
Recruiting No phase listed Observational

Rhizomelic Chondrodysplasia Punctata Registry

NCT04569162
View directory record Official record
Conditions
RCDP - Rhizomelic Chondrodysplasia Punctata, RCDP1, RCDP2, RCDP3, RCDP4, RCDP5
Interventions
Not listed
Lead sponsor
Nemours Children's Clinic
Other
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2030
U.S. locations
1
States / cities
Wilmington, Delaware
Source: ClinicalTrials.gov public record
Updated Aug 7, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Completed No phase listed Observational

Prognostic Value of Transforming Growth Factor-Beta 1 in Normal Pressure Hydrocephalus

NCT00600795
View directory record Official record
Conditions
Normal Pressure Hydrocephalus
Interventions
CSF collection
Other
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 4, 2017 · Synced Oct 20, 2026, 5:38 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Osteogenesis Imperfecta Blood Pressure Study

NCT04169568
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Manual cuff blood pressure
Procedure
Lead sponsor
Nemours Children's Clinic
Other
Eligibility
1 Year to 35 Years
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2025
U.S. locations
1
States / cities
Wilmington, Delaware
Source: ClinicalTrials.gov public record
Updated May 14, 2025 · Synced Oct 20, 2026, 5:38 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 26, 2026 · Synced Oct 20, 2026, 5:38 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 8, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Recruiting Phase 3 Interventional

Pediatric Safety Follow-up Study of Prior Treatment With Romosozumab for Osteogenesis Imperfecta

NCT07366086
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Vitamin D, Calcium
Dietary Supplement
Lead sponsor
Amgen
Industry
Eligibility
5 Years to 19 Years
Enrollment
71 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Oct 20, 2026, 5:38 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 24, 2013 · Synced Oct 20, 2026, 5:38 PM EDT
Recruiting No phase listed Observational

Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC

NCT04528355
View directory record Official record
Conditions
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias, Inflammatory Conditions
Interventions
data collection
Drug
Lead sponsor
Paul Szabolcs
Other
Eligibility
2 Months to 60 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 13, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Completed Phase 3 Interventional Results available

Pamidronate to Treat Osteogenesis Imperfecta in Children

NCT00005901
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Pamidronate (Aredia)
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Up to 16 Years
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 1, 2016 · Synced Oct 20, 2026, 5:38 PM EDT
Completed Not applicable Interventional

Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study

NCT00187018
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Bone marrow transplant
Biological
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Mar 4, 2015 · Synced Oct 20, 2026, 5:38 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care

NCT05368064
View directory record Official record
Conditions
Cleidocranial Dysostosis
Interventions
observational
Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2028
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 22, 2025 · Synced Oct 20, 2026, 5:38 PM EDT
Completed Not applicable Interventional Results available

Prevention of Post Operative Bone Loss in Children

NCT00655681
View directory record Official record
Conditions
Osteoporosis, Cerebral Palsy, Spina Bifida, Osteopenia, Osteogenesis Imperfecta
Interventions
pamidronate, saline
Drug · Other
Lead sponsor
University of New Mexico
Other
Eligibility
4 Years to 18 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2011
U.S. locations
1
States / cities
Albuquerque, New Mexico
Source: ClinicalTrials.gov public record
Updated Aug 22, 2023 · Synced Oct 20, 2026, 5:38 PM EDT
Enrolling by invitation Phase 2Phase 3 Interventional

A Clinical Trial to Investigate Long-term Safety, Tolerability, and Efficacy of Weekly Subcutaneous Doses With TransCon CNP in Children and Adolescents With Achondroplasia

NCT05929807
View directory record Official record
Conditions
Achondroplasia
Interventions
TransCon CNP
Drug
Lead sponsor
Ascendis Pharma Growth Disorders A/S
Industry
Eligibility
3 Years to 15 Years
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2039
U.S. locations
8
States / cities
Little Rock, Arkansas • Aurora, Colorado • Wilmington, Delaware + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 17, 2026 · Synced Oct 20, 2026, 5:38 PM EDT
Completed Phase 2 Interventional

Bisphosphonate Treatment of Osteogenesis Imperfecta

NCT00063479
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Zoledronic Acid
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
3 Months to 17 Years
Enrollment
158 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2007
U.S. locations
10
States / cities
Los Angeles, California • Wilmington, Delaware • Boise, Idaho + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 1, 2017 · Synced Oct 20, 2026, 5:38 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Study of Gene Modified Donor T-cells Following TCR Alpha Beta Positive Depleted Stem Cell Transplant

NCT03301168
View directory record Official record
Conditions
Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child, Lymphoma, Non-Hodgkin, Myelodysplastic Syndromes, Primary Immune Deficiency Disorder, Osteopetrosis, Cytopenia, Hemoglobinopathy in Children, Anemia, Aplastic
Interventions
BPX-501 T cells, Rimiducid
Biological · Drug
Lead sponsor
Bellicum Pharmaceuticals
Industry
Eligibility
1 Month to 26 Years
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2034
U.S. locations
10
States / cities
Los Angeles, California • Palo Alto, California • Washington D.C., District of Columbia + 7 more
Source: ClinicalTrials.gov public record
Updated Jul 12, 2022 · Synced Oct 20, 2026, 5:38 PM EDT