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Results for “Genetic Skeletal Diseases”

84 trials

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Showing 20 of 84 results

Large-scale testing (Phase 3)Active Not RecruitingNCT03424018
What this trial is testing

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

Who this might be right for
Achondroplasia
BioMarin Pharmaceutical 119
Not applicableStudy completedNCT01431326
What this trial is testing

Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care

Who this might be right for
AdenovirusAnesthesiaAnxiety+56 more
Daniel Benjamin 3,520
Not applicableLooking for participantsNCT07388966
What this trial is testing

Prospective Longitudinal Monocentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia

Who this might be right for
AchondroplasiaHypochondroplasia
SYSNAV 40
Large-scale testing (Phase 3)Not Yet RecruitingNCT07441876
What this trial is testing

Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia

Who this might be right for
Achondroplasia
BioMarin Pharmaceutical 160
Large-scale testing (Phase 3)UnknownNCT05848830
What this trial is testing

Home-based Training and Supplementation in DM1 Patients

Who this might be right for
Myotonic Dystrophy 1
McMaster University 60
Not applicableLooking for participantsNCT05876416
What this trial is testing

Decoding the Genetic Landscape of Skeletal Diseases

Who this might be right for
Genetic Skeletal DiseasesSkeletal DysplasiaMolecular Causes+1 more
Karolinska Institutet 450
Not applicableActive Not RecruitingNCT01851447
What this trial is testing

Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

Who this might be right for
Genetic Disorder
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 11
Not applicableLooking for participantsNCT07362875
What this trial is testing

Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy

Who this might be right for
Myotonic Dystrophy
Wake Forest University Health Sciences 75
Not applicableStudy completedNCT00943059
What this trial is testing

Cross-over Study on Effect of Lipid Lowering by Acipimox on Cardiac and Skeletal Muscle Mitochondrial Function

Who this might be right for
Diabetes Mellitus, Type 2Cardiomyopathy, Dilated
Maastricht University Medical Center 31
Very early researchEnded earlyNCT02357225
What this trial is testing

A Pilot Study of Pyridostigmine in Pompe Disease

Who this might be right for
Pompe Disease
University of Florida 2
Not applicableUnknownNCT06002373
What this trial is testing

Assessment of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients

Who this might be right for
Skeletal DysplasiaReverse Overjet
Cairo University 150
Not applicableWithdrawnNCT02298699
What this trial is testing

Biomarker for Sly Disease (MPS VII) (BioSly)

Who this might be right for
Developmental DelaySkeletal AbnormalitiesHepatomegaly+1 more
CENTOGENE GmbH Rostock
Not applicableStudy completedNCT00001754
What this trial is testing

Study of Skeletal Disorders and Short Stature

Who this might be right for
Developmental Bone DiseaseDwarfismSkeletal Dysplasias
National Human Genome Research Institute (NHGRI) 600
Large-scale testing (Phase 3)Study completedNCT06164951
What this trial is testing

Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia

Who this might be right for
Achondroplasia
QED Therapeutics, a BridgeBio company 114
Large-scale testing (Phase 3)Study completedNCT03197766
What this trial is testing

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

Who this might be right for
Achondroplasia
BioMarin Pharmaceutical 121
Not applicableActive Not RecruitingNCT05991609
What this trial is testing

Extreme Morphology and Metabolic Health

Who this might be right for
Skeletal Dysplasia
University of Bath 102
Not applicableLooking for participantsNCT06216704
What this trial is testing

Skeletal Health and Bone Marrow Composition in Adolescents With Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
Massachusetts General Hospital 36
Not applicableLooking for participantsNCT06749366
What this trial is testing

Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing

Who this might be right for
Enchondromatosis
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 100
Not applicableStudy completedNCT00001871
What this trial is testing

Study of Muscle Abnormalities in Patients With Specific Genetic Mutations

Who this might be right for
Cardiomyopathy, HypertrophicMuscular Dystrophy, Oculopharyngeal
National Heart, Lung, and Blood Institute (NHLBI) 80
Not applicableStudy completedNCT03704987
What this trial is testing

Skeletal Health of Klinefelter Patients

Who this might be right for
Osteoporosis
TC Erciyes University 247
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