Developmental diseases and malformations

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The database may not be exhaustive, please do not hesitate to contact us !

  • Enteric nervous system diseases

    Hirschprung Disease
    Genotype Phenotype

    • Cohorts

      > 100 patients

    Targets
    Therapeutics
    Clinical trials
    Congenital central hypoventilation syndrome (Ondine's curse)
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

    Pigmentary anomalies

    Waardenburg syndrome
    Genotype Phenotype

    • Cohorts

      35 patients

    Targets
    Therapeutics
    Clinical trials

  • CHARGE syndrome

    CHARGE Syndrome
    Genotype Phenotype

    • Cohorts

      > 100 pediatric and adult patients

    Targets
    Therapeutics
    Clinical trials

    Posterior cleft palate

    Pierre Robin syndrome
    Genotype Phenotype

    • Cohorts

      > 400 pediatric and adult patients

    Targets
    Therapeutics
    Clinical trials
    22q11 microdeletion syndrome
    Genotype Phenotype

    • Cohorts

      > 500 pediatric and adult patients

    Targets
    Therapeutics
    Clinical trials
    Congenital sucking, swallowing, and feeding disorders due to rare syndromes
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Congenital sucking, swallowing, and feeding disorders due to neurodevelopmental disorders
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Feeding behaviour disorders post traumatic or due to developmental malformations
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Feeding problems in normal populations
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Secondary velopharyngial insufficiency
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Cysts and fistulas

    Cleft lip/palate
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Cysts and fistulas of the first branchial cleft
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Cysts and fistulas of the second branchial cleft
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Cysts and fistulas of fourth branchial pouch
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Thyroglossal duct cysts
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Nasal tip and dorsum cysts and fistulas
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Dermoid cysts of all head and neck locations
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Branchial anomalies and fibrochondromas
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Atypical cysts and fistulas
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

    Primary Velopharyngeal insuffiency

    Primary Velopharyngeal insuffiency
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

    Larynx and trachea

    Hypoplasia, laryngeal atresia
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Laryngo-tracheal clefts
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Tracheal hypoplasia
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Larynx mobility anomalies
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Laryngomalacia
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Tracheoesophageal fistula
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Tracheomalacia
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Infantile hemangioma
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Recurrent respiratoryl papillomatosis
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Laryngeal-tracheal papillomatosis
    Genotype Phenotype

    • Cohorts

      Constitution of a national cohort

    Targets
    Therapeutics
    Clinical trials

    Nose sinuses and skull base

    Choanal atresia
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Congenital nasal pyriform aperture stenosis
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Congenital meningocele and meningocephalocele
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Nasolacrimal duct cyst
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

  • Transmission deafness

    Outer ear malformations
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Ossicles malformations - minor aplasia
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

    Outer ear and duct malformations

    Major aplasia
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Congenital stenosis of external auditory canals (notably 18q deletion)
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

  • Heterotaxia

    Atrio Ventricular Canal Defect (AVCD)
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Double Outlet Right Ventricle (DORV)
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Transposition of the great arteries (TGA)
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

  • Spina bifida or myelomeningocele
    Genotype Phenotype
    Targets
    Therapeutics

    • Protocols/Technics

      Endoscopic fetal surgery

    Clinical trials

    • NCT

      ENDOSPIN (NCT02390895) Prenatal Endoscopic Repair of Fetal Spina Bifida

    Aortic valve stenosis
    Genotype Phenotype
    Targets
    Therapeutics

    • Protocols/Technics

      Fetal aortic valvuloplasty

    Clinical trials
    Diaphragmatic hernia
    Genotype Phenotype
    Targets
    Therapeutics

    • Protocols/Technics

      Endotracheal foetoscopy PLUG (Plug the Lung Until it Grows) 

       

    Clinical trials
    Lower Urinary Tract Obstruction (LUTO)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Monochorionic pregnancy or twin-to-twin transfusion syndrome
    Genotype Phenotype
    Targets
    Therapeutics

    • Protocols/Technics

      Fetoscopic laser ablation of placental anastomoses

    Clinical trials
    Cytomegalovirus (CMV)
    Genotype Phenotype
    Targets
    Therapeutics

    • Specific therapeutic approaches

      Valaciclovir (ZELITREX)

    Clinical trials
    Hydrocephalus
    Genotype Phenotype
    Targets
    Therapeutics

    • Specific therapeutic approaches

      In neonates:

      - Ventriculoperitoneal shunting 

      - Ventriculocisternostomy 

      Fetal treatment:

      - Ventriculo-amniotic shunting 

      - Endoscopic ventriculocisternostomy 

    Clinical trials

    Specific technics

    Diagnostic:

    - Amniocentesis

    - Trophoblast biopsy

    - Fetal blood sampling

     

    Fetal therapy:

    - Endoscopic fetal surgery

    - Fetal aortic valvuloplasty

    - Endotracheal foetoscopy PLUG (Plug the Lung Until it Grows) 

    - Fetoscopic laser ablation of placental anastomoses

    - Ventriculo-amniotic shunting 

    - Endoscopic ventriculocisternostomy 

    - Fetal anaesthesia

    - Ex utero intrapartum treatment (EXIT procedure)

  • Brain malformations

    Joubert syndrome (JS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Meckel syndrome (MKS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Hydrolethalus syndrome (HLS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Corpus Callosum malformations
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Malformations of cortical development
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Cardiac ciliopathies

    Heterotaxia
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Situs inversus
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Renal ciliopathies

    Nephronophthisis
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Ocular ciliopathies

    Leber Congenital Amaurosis (LCA)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    X-linked retinitis pigmentosa (XLRP)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Skeletal ciliopathies

    Short-rib polydactyly
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Ellis Van Creveld syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Jeune asphyxiating thoracic dystrophy
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Spina bifida (or myelomeningocele)
    Genotype Phenotype

    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Other dysraphisms
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

Contacts

  • Thibaut Perchet

    Thibaut PERCHET

    Business development manager

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

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