Not applicableStudy completedNCT01625663What this trial is testingHeart and Muscle Metabolism in Barth SyndromeWho this might be right forBarth Syndrome Duke University 64
Testing effectiveness (Phase 2)Study completedNCT04265651What this trial is testingStudy of Infigratinib in Children With AchondroplasiaWho this might be right forAchondroplasia QED Therapeutics, a BridgeBio company 84
Testing effectiveness (Phase 2)Looking for participantsNCT06092034What this trial is testingA Gene Therapy Study of RP-A501 in Male Patients With Danon DiseaseWho this might be right forDanon Disease Rocket Pharmaceuticals Inc. 14
Post-approval studies (Phase 4)Looking for participantsNCT04152551What this trial is testingEffects of Bisphosphonates on OI-Related Hearing LossWho this might be right forOsteogenesis Imperfecta Hospital for Special Surgery, New York 100
Post-approval studies (Phase 4)Study completedNCT05371262What this trial is testingInfluence of Initial Levothyroxine Dose on Neurodevelopmental and Growth Outcomes in Congenital HypothyroidismWho this might be right forCongenital Hypothyroidism Federico II University 72
Not applicableStudy completedNCT02920671What this trial is testingMuscle OXPHOS and Nutrient HomeostasisWho this might be right forMitochondrial DiseasesObesity University of Pennsylvania 45
Large-scale testing (Phase 3)Study completedNCT03197766What this trial is testingEvaluate the Efficacy and Safety of BMN 111 in Children With AchondroplasiaWho this might be right forAchondroplasia BioMarin Pharmaceutical 121
Testing effectiveness (Phase 2)Study completedNCT03583697What this trial is testingA Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With AchondroplasiaWho this might be right forAchondroplasia BioMarin Pharmaceutical 75
Not applicableStudy completedNCT03548779What this trial is testingNorth Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2Who this might be right forEpilepsy; SeizureNeuromuscular DiseasesBrain Malformation+14 more University of North Carolina, Chapel Hill 548
Not applicableUnknownNCT06002373What this trial is testingAssessment of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III PatientsWho this might be right forSkeletal DysplasiaReverse Overjet Cairo University 150
Testing effectiveness (Phase 2)Study completedNCT03208582What this trial is testingDo Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta?Who this might be right forOsteogenesis Imperfecta Sheffield Children's NHS Foundation Trust 13
Not applicableStudy completedNCT05988476What this trial is testingInvestıgatıon of The Effıciency of Pulsed Electromagnetıc Field Therapy and Stretching ExercisesWho this might be right forMuscle InjuryPulsed Electromagnetic TherapyMuscle Stretching Exercise Suleyman Demirel University 64
Not applicableEnded earlyNCT01675674What this trial is testingStudy to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia ClinicsWho this might be right forMucopolysaccharidosesMucopolysaccharidosis IMucopolysaccharidosis II+2 more National MPS Society 3,000
Testing effectiveness (Phase 2)Study completedNCT01856868What this trial is testingUse of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study)Who this might be right forBecker Muscular Dystrophy Craig McDonald, MD 7
Not applicableEnded earlyNCT02762318What this trial is testingIdentification and Characterization of Bone-related Genetic Variants in FamiliesWho this might be right forSkeletal Dysplasia Weill Medical College of Cornell University 5
Testing effectiveness (Phase 2)Active Not RecruitingNCT03989947What this trial is testingAn Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With AchondroplasiaWho this might be right forAchondroplasia BioMarin Pharmaceutical 73
Not applicableNot Yet RecruitingNCT05858606What this trial is testingMultidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature PatientsWho this might be right forIdiopathic Short Stature University Hospital, Montpellier 200
Very early researchEnded earlyNCT02653833What this trial is testingThe Study of Skeletal Muscle Blood Flow in Becker Muscular DystrophyWho this might be right forMuscular Dystrophy Cedars-Sinai Medical Center 6
Not applicableLooking for participantsNCT05284006What this trial is testingNon-invasive Functional Assessment and Pathogenesis of Morquio AWho this might be right forMucopolysaccharidosis IV Type AMorquio A SyndromeMPS IVA Nemours Children's Clinic 60
Not applicableLooking for participantsNCT06216704What this trial is testingSkeletal Health and Bone Marrow Composition in Adolescents With Cystic FibrosisWho this might be right forCystic Fibrosis Massachusetts General Hospital 36