Clinical trials: Skeletal Abnormalities
Danon Disease
A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (rAAV9) vector containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B)…
- Trial name
- NCT06092034
- Testing
- RP-A501
- Where
- 6 sites in United States, Germany and 2 more
- Volunteers
- 18 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Achondroplasia
Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)
This is a long-term, multi-center, observational study in children 2.5 to <17 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications, assessments of health-related quality of life…
- Trial name
- NCT04035811
- Where
- 32 sites in United States, Argentina and 9 more
- Volunteers
- 271 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Osteoporosis
Skeletal Health of Klinefelter Patients
This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.
- Trial name
- NCT03704987
- Testing
- dual-energy X-ray absorptiometry
- Where
- Turkey (Türkiye)
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University
Diabetes Mellitus, Type 2, Cardiomyopathy, Dilated
Cross-over Study on Effect of Lipid Lowering by Acipimox on Cardiac and Skeletal Muscle Mitochondrial Function
Accumulation of lipid in skeletal and cardiac muscle has been associated with insulin resistance and diabetic cardiomyopathy. In skeletal muscle, lipotoxic damage has been suggested to lead to dysfunction of mitochondria.
- Trial name
- ACP (NCT00943059)
- Testing
- Acipimox, Cellulosum Mycrocryst
- Where
- Netherlands
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Congenital Hypothyroidism
Influence of Initial Levothyroxine Dose on Neurodevelopmental and Growth Outcomes in Congenital Hypothyroidism
The primary objective of this study is to evaluate the risk-benefit profile of long-term treatment of two different initials treatment schemes with L-T4 on the neurodevelopmental and auxological outcomes in children with…
- Trial name
- NCT05371262
- Testing
- Levothyroxin
- Volunteers
- 72 people
- Sponsor
- Federico II University
Achondroplasia
An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia
This is a Phase 2, open-label multi-center long-term extension study, with approximately 70 subjects, to evaluate the safety and efficacy of BMN111 in children with Achondroplasia until subjects reach near-adult final height.
- Trial name
- NCT03989947
- Testing
- Active BMN 111: Subcutaneous injection of recommended dose of BMN 111 based on weight-band dosing once daily.
- Where
- 16 sites in United States, Australia and 2 more
- Volunteers
- 73 people
- Sponsor
- BioMarin Pharmaceutical
Pediatric ALL, Congenital Heart Disease
Exercise MRI to Evaluate Cardiorespiratory Fitness in Children With Heart Disease
There are many barriers to heart-healthy lifestyles in pediatric patients with acquired and congenital heart disease. Investigators want to further understand how participants heart and skeletal muscles work together during…
- Conditions
- Pediatric ALL, Congenital Heart Disease, Heart Transplantation
- Trial name
- NCT06325280
- Testing
- Exercise cardiac MRI Assessment, Cardiopulmonary Exercise Test
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- University of Alberta
Barth Syndrome
Heart and Muscle Metabolism in Barth Syndrome
Barth syndrome (BTHS) is an X-linked disorder caused by abnormal cardiolipin metabolism and is characterized by skeletal and cardiomyopathy and high mortality rates.
- Trial name
- NCT01625663
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Duke University
Malocclusion, Angle Class II, Retrognathism
The Effect of Functional Treatment of Patients With Backward Positioned Chins on the Jaw Joint and Movements
Patients with class II malocclusion and retrognathic mandibles will be treated using functional appliances and asses the remodeling that is expected to occur in the temporomandibular joint (TMJ) using cone-beam computed…
- Conditions
- Malocclusion, Angle Class II, Retrognathism, TMJ
- Trial name
- NCT03645343
- Testing
- Activator, Twin Block
- Where
- Syria
- Volunteers
- 66 people
- Sponsor
- Damascus University
Glycogen Storage Disease, McArdle Disease
Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases
The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage.
- Conditions
- Glycogen Storage Disease, McArdle Disease, Pompe Disease (Late-onset)
- Trial name
- NCT04929002
- Testing
- No intervention
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Cystic Fibrosis
Skeletal Health and Bone Marrow Composition in Adolescents With Cystic Fibrosis
The investigators will be evaluating bone marrow composition via magnetic resonance imaging in adolescents diagnosed with cystic fibrosis (CF) compared to healthy, matched controls.
- Trial name
- NCT06216704
- Testing
- Magnetic resonance relaxometry, Magnetic resonance spectroscopy, Blood Draw
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Hypochondroplasia
An Interventional Study of Infigratinib in Children With Hypochondroplasia
ACCEL2/3 is a Phase 2/3 study. The purpose of the Phase 2 portion of the study (ACCEL2/3) is to evaluate the efficacy and safety of infigratinib in children with hypochondroplasia (HCH) receiving infigratinib at one of two doses…
- Trial name
- HCH (NCT06873035)
- Testing
- infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 24 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Maxillofacial Abnormalities, Jaw Abnormalities
Digital Occlusal Wafer Versus Waferless Distal Segment Repositioning for BSSO in Skeletal Mandibular Deformities
Research studies continues to attempt testing modifications to refine the treatment protocols through computer assisted design or computer-generated surgical Wafer splints, have greatly revolutionized the incorporation of digital…
- Conditions
- Maxillofacial Abnormalities, Jaw Abnormalities, Prognathism, Retrognathia
- Trial name
- NCT05151042
- Testing
- wafer-less approach, Computer Guided orthognathic surgery using occlusal wafers
- Where
- Egypt
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Cairo University
Fibrodysplasia Ossificans Progressiva (FOP)
A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)
Primary Objective(s): To describe the demographic characteristics of people living with FOP and a matched cohort of non-FOP people living in the United States (U.S.) To describe the prevalence of clinical characteristics of…
- Trial name
- NCT06064656
- Testing
- Non-Interventional
- Where
- United States
- Volunteers
- 131 people
- Sponsor
- Regeneron Pharmaceuticals
Achondroplasia
Study of Infigratinib in Children With Achondroplasia
This is a Phase 2, multicenter, open-label, dose-escalation and dose-expansion study to evaluate the safety, tolerability, and efficacy of infigratinib, a fibroblast growth factor receptor (FGFR) 1-3-selective tyrosine kinase…
- Trial name
- NCT04265651
- Testing
- Infigratinib 0.016 mg/kg, Infigratinib 0.032 mg/kg, Infigratinib 0.064 mg/kg
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 84 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Osteogenesis Imperfecta
Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta?
Osteogenesis Imperfecta(OI) is an inherited disorder characterised by extreme fragility of the bones. Bones often break from little or no apparent cause.
- Trial name
- BAMES (NCT03208582)
- Testing
- Risedronate Sodium, Calcichew tablets
- Where
- United Kingdom
- Volunteers
- 13 people
- Sponsor
- Sheffield Children's NHS Foundation Trust