Bone-joint disorders

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The database may not be exhaustive, please do not hesitate to contact us !
  • Ostegenesis imperfecta
    Genotype Phenotype
    • Cohorts

      Please, contact us

    • Patient samples

      DNA

    Targets
    • In vitro models

      osteoblast from patient / osteoblast from mouse

    • In vivo models

      B6C3Fe a/a-Col1a2oim/J mouse model

    • Specific targets

      COL1A1/ COL1A2/ CCDC134/ MESDC2/ LEPRE1/ FKPB10/ FAM46A/ TBXAS

    Therapeutics
    • Specific therapeutic approaches

      Enzyme inhibitors

    Clinical trials
  • Acromicric dysplasia
    Genotype Phenotype
    • Cohorts

      Please, contact us

    • Patient samples

      DNA

      Fibroblasts from patients

    Targets
    • In vitro models

      Fibroblasts from patients

    • In vivo models

      Fbn1 knock-in mouse model

    • Specific targets

      FBN1/ LTBP3

    Therapeutics
    Clinical trials
    Geleophysic dysplasia
    Genotype Phenotype
    • Cohorts

      Please, contact us

    • Patient samples

      DNA

      Fibroblasts

    Targets
    • In vitro models

      Fibroblasts from patients / chondrocytes from mouse

    • In vivo models

      Adamtsl2 knock-out mouse model

    • Specific targets

      FBN1/ ADAMTSL2

    Therapeutics
    Clinical trials
    Weil-Marchesani syndrome
    Genotype Phenotype
    • Cohorts

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    • Patient samples

      DNA

      Fibroblasts

    Targets
    • In vitro models

      Fibroblasts from patients

    • Specific targets

      ADAMTS10/ ADAMTS17

    Therapeutics
    Clinical trials
    Myhre syndrome
    Genotype Phenotype
    • Cohorts

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    • Patient samples

      DNA

      Fibroblasts

    Targets
    • In vitro models

      DNA

      Fibroblasts form patients

    • In vivo models

      Smad4 knock-in mouse model

    Therapeutics
    Clinical trials
  • Mesomelic dysplasia
    Genotype Phenotype
    • Cohorts

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    Targets
    Therapeutics
    Clinical trials

  •  

    Desbuquois syndrome
    Genotype Phenotype
    • Cohorts

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    • Patient samples

      DNA

      Fibroblasts

    Targets
    • In vitro models

      Fibroblasts from patients

      Chondrocytes from mouse

      Osteoblasts from mouse

    • In vivo models

      Slc10a7 knock-out mouse model

    • Specific targets

      XYLT1 / SLC10A7 / CANT1

    Therapeutics
    Clinical trials
    Diastrophic dysplasia
    Genotype Phenotype
    • Cohorts

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    • Patient samples

      DNA

      Fibroblasts

    Targets
    • In vitro models

      Fibroblasts from patients

    • Specific targets

      SLC26A2

    Therapeutics
    Clinical trials
    Larsen syndrome
    Genotype Phenotype
    • Cohorts

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    • Patient samples

      DNA

      Fibroblasts

    Targets
    • In vitro models

      Fibroblasts from patients

    • Specific targets

      B3GAT3 / B4GALT7

    Therapeutics
    Clinical trials
  • Short-rib polydactyly
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Ellis Van Creveld syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Jeune asphyxiating thoracic dystrophy
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
  • Chondrodysplasia

    Achondroplasia (ACH)
    Genotype Phenotype
    • Cohorts

      Pediatric

      300

    • Observational trials

      NCT04035811: prospective cClinical assessment study in children with achondroplasia

      NCT03794609: observational study investigating clinical & anthropometric characteristics of children With achondroplasia

    • Patient samples

      DNA

    Targets
    • In vitro models

      Osteoblast from mice

      Chondrocyte from mice

    • In vivo models

      C57BL/6 Fgfr3Y367C/+ mouse model

    • Specific targets

      FGFR3

    Therapeutics
    • Patents

      WO/2019/145356: Methods and pharmaceutical compositions for the treatment of FGFR3-related chondrodysplasias

      WO/2013/088191: Antagonist of the Fibroblast Growth Factor Receptor 3 (FGFR3) for use in the treatment or the prevention of skeletal disorders linked with abnormal activation of FGFR3

    • Protocols/Technics

      In vitro, In vivo and Ex vivo organ culture (femur, calvaria, mandible) POC studies

    • Specific therapeutic approaches

      Small molecule

    Clinical trials
    • NCT

      NCT02055157/NCT02724228 : phase II study to evaluate long-term safety, tolerability, & efficacy of BMN 111 in children with Achondroplasia

    Hypochondroplasia (HCH)
    Genotype Phenotype
    • Cohorts

      Pediatric

      100

    • Patient samples

      DNA

    Targets
    • In vivo models

      HCH mice

    • Protocols/Technics

      In vitro, In vivo and Ex vivo organ culture (femur, calvaria, mandible) POC studies

    • Specific targets

      FGFR3

    Therapeutics
    • Patents

      WO/2019/145356: Methods and pharmaceutical compositions for the treatment of FGFR3-related chondrodysplasias

    Clinical trials
    • NCT

      NCT01111019: phase II

      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

    Craniosynostoses

    Crouzon with Acanthosis Nigricans (CAN)
    Genotype Phenotype
    • Cohorts

      Pediatric

    • Patient samples

      DNA

    Targets
    • In vitro models

      Osteoblasts

    • In vivo models

      CAN mice

    • Specific targets

      FGFR3

    Therapeutics
    Clinical trials
    Muenke syndrome
    Genotype Phenotype
    • Cohorts

      Pediatric

    • Patient samples

      DNA

    Targets
    • In vitro models

      Osteoblasts

    • Specific targets

      FGFR3

    Therapeutics
    Clinical trials
  • Hereditary multiple exostoses
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Metachondromatosis
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Ollier-Maffucci syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Fibrodysplasia ossificans progressiva
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
  • Brachydactyly
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Craniostenosis
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Ectrodactyly
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Polydactyly
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Syndactyly
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Cornelia de Lange syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Adams Oliver syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
  • Marshall-Smith syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Sotos syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
  • Non-vascular Ehlers-Danlos syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
  • Hypercalcemia
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Hypocalcemia
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

Contacts

  • Marion Pilorge

    Marion PILORGE

    Business development manager

    • marion.pilorge@institutimagine.org
    • +33 1 42 75 45 65
  • Nicolas Doulet

    Nicolas DOULET

    Business development manager

    • nicolas.doulet@institutimagine.org
    • +33(0)1 42 75 42 55

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