Bone-joint disorders
Teams
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Laurence LEGEAI-MALLET & Valérie CORMIER-DAIRE
>> Research Lab
Molecular and physiopathological bases of osteochondrodysplasia -
Valérie CORMIER-DAIRE
>> Reference center for rare diseases
Constitutional bone diseases (MOC)
Associated with the European Reference Network (ERN) BOND -
Michel Zérah
Reference center for rare diseases
Craniosynostosis and craniofacial malformations (CRANIOST)
Filière TETE COU
Associated with the European Reference Network (ERN) Craniofacial anomalies and ENT disorders -
Michel Zérah
>> Reference center for rare diseases
Rares vertebral and spinal malformations (C-MAVEM)
Filière Neurosphinx
Associated with the European Reference Network (ERN) eUROGEN
Imagine's Offers
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Ostegenesis imperfectaGenotype Phenotype
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Cohorts
Please, contact us
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Patient samples
DNA
Targets-
In vitro models
osteoblast from patient / osteoblast from mouse
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In vivo models
B6C3Fe a/a-Col1a2oim/J mouse model
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Specific targets
COL1A1/ COL1A2/ CCDC134/ MESDC2/ LEPRE1/ FKPB10/ FAM46A/ TBXAS
Therapeutics-
Specific therapeutic approaches
Enzyme inhibitors
Clinical trials -
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Acromicric dysplasiaGenotype Phenotype
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Cohorts
Please, contact us
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Patient samples
DNA
Fibroblasts from patients
Targets-
In vitro models
Fibroblasts from patients
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In vivo models
Fbn1 knock-in mouse model
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Specific targets
FBN1/ LTBP3
TherapeuticsClinical trialsGeleophysic dysplasiaGenotype Phenotype-
Cohorts
Please, contact us
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Patient samples
DNA
Fibroblasts
Targets-
In vitro models
Fibroblasts from patients / chondrocytes from mouse
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In vivo models
Adamtsl2 knock-out mouse model
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Specific targets
FBN1/ ADAMTSL2
TherapeuticsClinical trialsWeil-Marchesani syndromeGenotype Phenotype-
Cohorts
Please, contact us
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Patient samples
DNA
Fibroblasts
Targets-
In vitro models
Fibroblasts from patients
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Specific targets
ADAMTS10/ ADAMTS17
TherapeuticsClinical trialsMyhre syndromeGenotype Phenotype-
Cohorts
Please, contact us
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Patient samples
DNA
Fibroblasts
Targets-
In vitro models
DNA
Fibroblasts form patients
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In vivo models
Smad4 knock-in mouse model
TherapeuticsClinical trials -
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Mesomelic dysplasiaGenotype Phenotype
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Cohorts
Please, contact us
TargetsTherapeuticsClinical trials -
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Desbuquois syndromeGenotype Phenotype-
Cohorts
Please, contact us
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Patient samples
DNA
Fibroblasts
Targets-
In vitro models
Fibroblasts from patients
Chondrocytes from mouse
Osteoblasts from mouse
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In vivo models
Slc10a7 knock-out mouse model
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Specific targets
XYLT1 / SLC10A7 / CANT1
TherapeuticsClinical trialsDiastrophic dysplasiaGenotype Phenotype-
Cohorts
Please, contact us
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Patient samples
DNA
Fibroblasts
Targets-
In vitro models
Fibroblasts from patients
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Specific targets
SLC26A2
TherapeuticsClinical trialsLarsen syndromeGenotype Phenotype-
Cohorts
Please, contact us
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Patient samples
DNA
Fibroblasts
Targets-
In vitro models
Fibroblasts from patients
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Specific targets
B3GAT3 / B4GALT7
TherapeuticsClinical trials -
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Short-rib polydactylyGenotype Phenotype
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Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsEllis Van Creveld syndromeGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsJeune asphyxiating thoracic dystrophyGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trials -
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Chondrodysplasia
Achondroplasia (ACH)Genotype Phenotype-
Cohorts
Pediatric
300
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Observational trials
NCT04035811: prospective cClinical assessment study in children with achondroplasia
NCT03794609: observational study investigating clinical & anthropometric characteristics of children With achondroplasia
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Patient samples
DNA
Targets-
In vitro models
Osteoblast from mice
Chondrocyte from mice
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In vivo models
C57BL/6 Fgfr3Y367C/+ mouse model
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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
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Protocols/Technics
In vitro, In vivo and Ex vivo organ culture (femur, calvaria, mandible) POC studies
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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
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Patient samples
DNA
Targets-
In vivo models
HCH mice
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Protocols/Technics
In vitro, In vivo and Ex vivo organ culture (femur, calvaria, mandible) POC studies
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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
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Patient samples
DNA
Targets-
In vitro models
Osteoblasts
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In vivo models
CAN mice
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Specific targets
FGFR3
TherapeuticsClinical trialsMuenke syndromeGenotype Phenotype-
Cohorts
Pediatric
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Patient samples
DNA
Targets-
In vitro models
Osteoblasts
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Specific targets
FGFR3
TherapeuticsClinical trials -
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Hereditary multiple exostosesGenotype Phenotype
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Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsMetachondromatosisGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsOllier-Maffucci syndromeGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsFibrodysplasia ossificans progressivaGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trials -
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BrachydactylyGenotype Phenotype
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Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsCraniostenosisGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsEctrodactylyGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsPolydactylyGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsSyndactylyGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsCornelia de Lange syndromeGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsAdams Oliver syndromeGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trials -
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Marshall-Smith syndromeGenotype Phenotype
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Cohorts
Please, contact us
TargetsTherapeuticsClinical trialsSotos syndromeGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trials -
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Non-vascular Ehlers-Danlos syndromeGenotype Phenotype
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Cohorts
Please, contact us
TargetsTherapeuticsClinical trials -
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HypercalcemiaGenotype Phenotype
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Cohorts
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TargetsTherapeuticsClinical trialsHypocalcemiaGenotype Phenotype-
Cohorts
Please, contact us
TargetsTherapeuticsClinical trials -
Contacts
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Thibaut PERCHET
Business development manager
- thibaut.perchet@institutimagine.org
- +33(0)1 42 75 42 55
