Clinical trials: Skeletal Abnormalities
SEDC, Hypochondrogenesis
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
There are relatively few data available on type II collagen disorders, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disease burden over time as well…
- Conditions
- SEDC, Hypochondrogenesis, Semd, Strudwick Type, Kniest Dysplasia
- Trial name
- ROCKET (NCT05408715)
- Testing
- Natural History Study
- Where
- 2 sites in France, Spain
- Volunteers
- 60 people
- Sponsor
- Innoskel
Achondroplasia
A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia
Study 111-206 is a Phase 2 randomized, double-blind, placebo-controlled clinical trial of BMN 111 in infants and young children with a diagnosis of achondroplasia.
- Trial name
- NCT03583697
- Testing
- BMN 111
- Where
- 16 sites in United States, Australia and 2 more
- Volunteers
- 75 people
- Sponsor
- BioMarin Pharmaceutical
Hypochondroplasia
Interventional Study of Vosoritide for the Treatment of Children With Hypochondroplasia
The intent and design of this Phase 3 study is to assess vosoritide as a therapeutic option for the treatment of children with hypochondroplasia (HCH).
- Trial name
- CANOPY-HCH-3 (NCT06455059)
- Testing
- Vosoritide
- Where
- 23 sites in United States, Australia and 7 more
- Volunteers
- 80 people
- Sponsor
- BioMarin Pharmaceutical
Turner Syndrome
Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome
This is an extension study that will gather long-term data on the effect of early growth hormone (GH) treatment on adult height and other aspects of health and development in girls with Turner syndrome.
- Trial name
- NCT00266656
- Testing
- Humatrope
- Where
- 9 sites in United States
- Volunteers
- 69 people
- Sponsor
- Eli Lilly and Company
Danon Disease
Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B
This is a non-randomized open-label Phase 1 study to evaluate the safety and toxicity of gene therapy using a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2…
- Trial name
- NCT03882437
- Testing
- RP-A501
- Where
- 3 sites in United States
- Volunteers
- 7 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Achondroplasia
Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia
This is a multicenter, multinational, randomized, active-controlled, operationally seamless Phase 2/3 study of BMN 333 in treatment-naïve pediatric participants with achondroplasia (ACH).
- Trial name
- ASPEN (NCT07441876)
- Testing
- BMN 333, Vosoritide Injection [Voxzogo]
- Where
- 28 sites in United States, Australia and 7 more
- Volunteers
- 160 people
- Sponsor
- BioMarin Pharmaceutical
Hypochondroplasia
Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-treated Children
This study is conducted to describe the efficacy and safety of recombinant human growth hormone (r-hGH) treatment Saizen® on children with hypochondroplasia.
- Trial name
- NCT01111019
- Testing
- Recombinant human growth hormone (r-hGH)
- Where
- France
- Volunteers
- 19 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Achondroplasia
A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia
Approximately 63 participants will be randomized to one of three doses to receive Recifercept either Low Dose Medium Dose High Dose Participants will will attend the clinic at baseline and at Day 1, 4, 8, 15, 29 \& then Month 2…
- Trial name
- NCT04638153
- Testing
- Recifercept
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 60 people
- Sponsor
- Pfizer
Duchenne Muscular Dystrophy (DMD)
Safety and Dystrophin Expression of SPOT-03 in Duchenne Muscular Dystrophy (DMD) Patients
The primary objective of this study is to evaluate the safety and tolerability of SPOT-03 administered by intravenous (IV) infusion to DMD patients.
- Trial name
- NCT07188012
- Testing
- SPOT-03
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Shanghai Siponuoyin Biotechnology Co Ltd
Achondroplasia
Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH)
This is a Phase 2, multicenter, randomized, placebo-controlled study to evaluate the safety and efficacy of infigratinib in participants < 3 years old with ACH.
- Trial name
- NCT07169279
- Testing
- Infigratinib is provided as a single dose of minitablets for oral administration, Infigratinib is provided as sprinkle capsules for daily oral administration
- Where
- 12 sites in United States, Australia and 5 more
- Volunteers
- 77 people
- Sponsor
- QED Therapeutics, a BridgeBio company
X-Linked Hypophosphatemia
A Study to Describe the Lived Experience of XLH for Adolescents at End of Skeletal Growth
An observational, prospective, mixed-methods study involving the integration of quantitative and qualitative data exploring the lived experience of burosumab-treated adolescents with XLH at the end of skeletal growth.
- Trial name
- NCT05181839
- Testing
- Burosumab
- Where
- 14 sites in France, Germany and 3 more
- Volunteers
- 25 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Thalassemia
Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events
The evaluation of efficacy is performed by laboratory monitoring of bone density and resorption markers and clinical monitoring of bone density improvement.
- Trial name
- NCT00346242
- Testing
- Zoledronic Acid
- Where
- Greece
- Volunteers
- 60 people
- Sponsor
- Novartis Pharmaceuticals
Achondroplasia
A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia
The intent and design of this Phase 3 study is to assess BMN 111 as a therapeutic option for the treatment of children with Achondroplasia.
- Trial name
- NCT03197766
- Testing
- BMN 111
- Where
- 24 sites in United States, Australia and 5 more
- Volunteers
- 121 people
- Sponsor
- BioMarin Pharmaceutical
Gaucher Disease
Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies
Primary Objective: Evaluate long term skeletal response to eliglustat in adult participants who successfully completed one of the Phase 2 or Phase 3 eliglustat studies.
- Trial name
- EXOSKEL (NCT02536755)
- Testing
- Eliglustat, GZ385660
- Where
- 4 sites in Canada, Russia and 1 more
- Volunteers
- 31 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease Type I, Cerebroside Lipidosis Syndrome
A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.
This is a multicenter, open-label, prospective study of the efficacy of Cerezyme in treating patients with skeletal manifestations secondary to Type I Gaucher disease.
- Conditions
- Gaucher Disease Type I, Cerebroside Lipidosis Syndrome, Clucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
- Trial name
- NCT00365131
- Testing
- Cerezyme (imiglucerase for injection)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Genzyme, a Sanofi Company
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals
Hypochondroplasia
Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia
Phase 2, multicenter, OLE study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR (fibroblast growth factor receptor) 1-3-selective tyrosine kinase inhibitor, in participants with…
- Trial name
- NCT07393373
- Testing
- Infigratinib
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 135 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Achondroplasia
Extension Study of Infigratinib in Children With Achondroplasia (ACH)
This is a Phase 2, multicenter, open-label, extension (OLE) study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR 1-3-selective tyrosine kinase inhibitor, in participants with ACH who…
- Trial name
- NCT05145010
- Testing
- Infigratinib
- Where
- 31 sites in United States, Argentina and 8 more
- Volunteers
- 325 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Achondroplasia
Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia
All participants who completed the prior study to assess long-term safety, tolerability, pharmacokinetics and efficacy, and in the opinion of the investigator, continue to have a positive risk:benefit profile, will be offered to…
- Trial name
- NCT05116046
- Testing
- Recifercept
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 35 people
- Sponsor
- Pfizer
Achondroplasia
A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia
This is a Phase 3, multicenter, double-blind, randomized, placebo-controlled study to evaluate the efficacy and safety of infigratinib in children and adolescents with achondroplasia (ACH) who have completed at least 26 weeks of…
- Trial name
- PROPEL3 (NCT06164951)
- Testing
- Infigratinib 0.25 mg/kg/day
- Where
- 27 sites in United States, Argentina and 8 more
- Volunteers
- 114 people
- Sponsor
- QED Therapeutics, a BridgeBio company