Bone-Joint Disorders
Acromeclic dysplasia
DNA samples from patients with Weil-Marchesani syndrome
Fibroblasts from patients with Weil-Marchesani syndrome
Patient cohort
DNA from patients
Fibroblast from patients
Fibroblasts from patients
Smad4 I499V/+ mice
Patient cohort
Adamtsl2-/- mice
DNA from patients with Geleophysic dysplasia
Fibroblasts from patients with Geleophysic dysplasia
Patient cohort
Fbn1Y1696C/+ mice
Fibroblasts from patients
Patient cohort
Calcium and phosphate metabolism
X-linked hypophosphatemia zebrafish
Patient cohort
Patient cohort
Chondrodysplasia
C57BL/6 Fgfr3Y367C/+ mice
In vivo and ex vivo bone protocols (femur – calvaria – mandible – vertebrae)
A new combination therapy for the treatment of FGFR3-related skeletal disease
Antagonist of the Fibroblast Growth Factor Receptor 3 (FGFR3) for use in the treatment or the prevention of skeletal disorders linked with abnormal activition of FGFR3
Compositions for the treatment of fgfr3-related cognitive deficits with a catechin
Infigratinib for treatment of FGFR3-related skeletal diseases during pregnancy
Methods and pharmaceutical compositions for the treatment of FGFR3-related chondrodysplasias
Methods and pharmaceutical compositions for the treatment of FGFR3-related cognitive deficit
Use of analog of C-type natriuretic peptide for the treatment of FGFR-related bone repair and bone formation impairments
Use of catechin for the treatment FGFR-related bone repair and bone formation repairment
Use of FGFR3 tyrosine kinase inhibitor for the treatment of FGFR-related bone repair and bone formation impairment
NCT04265651 – Study of Infigratinib in Children With Achondroplasia
NCT05145010 – Extension Study of Infigratinib in Children With Achondroplasia (ACH)
DNA samples from patients with Hypochondroplasia
Fgfr3N534K/+ mice
In vivo and ex vivo bone protocols (femur – calvaria – mandible – vertebrae)
>100 patient cohort (pediatric)
A new combination therapy for the treatment of FGFR3-related skeletal disease
Antagonist of the Fibroblast Growth Factor Receptor 3 (FGFR3) for use in the treatment or the prevention of skeletal disorders linked with abnormal activition of FGFR3
Compositions for the treatment of fgfr3-related cognitive deficits with a catechin
Infigratinib for treatment of FGFR3-related skeletal diseases during pregnancy
Methods and pharmaceutical compositions for the treatment of FGFR3-related chondrodysplasias
Methods and pharmaceutical compositions for the treatment of FGFR3-related cognitive deficit
Use of analog of C-type natriuretic peptide for the treatment of FGFR-related bone repair and bone formation impairments
Use of catechin for the treatment FGFR-related bone repair and bone formation repairment
Use of FGFR3 tyrosine kinase inhibitor for the treatment of FGFR-related bone repair and bone formation impairment
Chondrodysplasia with multiple joint dislocations
DNA from patients with Larsen syndrome
Fibroblasts from patients
Fibroblasts from patients
Patient cohort
Chondrocytes fromSlc10a7 KO mice
DNA samples from patients
Fibroblasts from patients with Desbuquois syndrome
Osteoblasts from Slc10a7 knock-out mice
Slc10a7 KO mice
Patient cohort
DNA samples from patients with Diastrophic dysplasia
Fibroblasts from patients with Diastrophic dysplasia
Patient cohort
Craniosynostoses
DNA samples from patients with Crouzon syndrome with acanthosis nigricans
Fgfr3A385E/+ mice
Osteoblasts from patients with Crouzon syndrome with acanthosis nigricans
Patient cohort (pediatric)
Disorganized development of skeletal components
Patient cohort
NCT05039515 – A Study to Assess the Effectiveness and Safety of 2 Dosage Regimens of Oral Fidrisertib (IPN60130) for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP).
NCT05090891 – To Assess the Efficacy Safety and Tolerability of INCB000928 in Participants With Fibrodysplasia Ossificans Progressiva
NCT05027802 – A Rollover Study to Further Evaluate the Safety and Efficacy of Palovarotene Capsules in Male and Female Participants Aged ≥14 Years With Fibrodysplasia Ossificans Progressiva (FOP) Who Have Completed the Relevant Parent Studies.
Patient cohort
Patient cohort
Patient cohort
Dysostosis
Patient cohort
Patient cohort
U2OS cell line
Patient cohort
Patient cohort
Patient cohort
Patient cohort
Patient cohort
Mesolemic dysplasia
Osteogenesis
B6C3Fe a/a-Col1a2oim/J mice
Osteoblasts from B6C3Fe a/a-Col1a2oim/J mice
Osteoblasts from patients
Patient cohort
Methods for the treatment and diagnosis of bone mineral density related disease
NCT05125809 – Study to Assess Dose Efficacy and Safety of Setrusumab in Participants With Osteogenesis Imperfecta
NCT05419960 – Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta
NCT05612139 – Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric Patients
NCT05768854 – Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta
Overgrowth or tall stature syndrome
Patient cohort
Patient cohort
Skeletal Ciliopathies
Patient cohort
Patient cohort
Patient cohort
Ehlers-Danlos syndrome
Patient cohort