Bone-Joint Disorders

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

X-linked hypophosphatemia zebrafish

Patient cohort

Patient cohort

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

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 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)

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

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 FGFR3 tyrosine kinase inhibitor for the treatment of FGFR-related bone repair and bone formation impairment

>100 patient cohort (pediatric)

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

DNA samples from patients with Crouzon syndrome with acanthosis nigricans

Fgfr3A385E/+ mice

Osteoblasts from patients with Crouzon syndrome with acanthosis nigricans

Patient cohort (pediatric)

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

Patient cohort

Patient cohort

U2OS cell line

Patient cohort

Patient cohort

Patient cohort

Patient cohort

Patient cohort

B6C3Fe a/a-Col1a2oim/J mice

Osteoblasts from B6C3Fe a/a-Col1a2oim/J mice

Osteoblasts from patients

Enzyme inhibitors (OI)

Methods for the treatment and diagnosis of bone mineral density related disease

Patient cohort

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

Patient cohort

Patient cohort

Patient cohort

Patient cohort

Patient cohort

Patient cohort