Developmental Diseases and Malformation

Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
CHARGE syndrome
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

> 100 pediatric and adult patients

Therapeutic and Diagnostic Development
Primary velopharyngeal insufficiency
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Congenital sucking and swallowing and feeding disorders due to neurodevelopment malformations
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Feeding problems in normal population
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Secondary velopharyngial insufficiency
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Pierre Robin syndrome
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

>400 patient cohort (pediatric and adult)

Therapeutic and Diagnostic Development
Feeding behaviour disorders post-traumatic or due to development malformations
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Congenital sucking and swallowing and feeding disorders due to neurodevelopment disorders
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
22q11 microdeletion syndrome
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

> 500 pediatric and adult patients

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Thyroglossal duct cysts
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Nasal tip and dorsum cysts and fistulas
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Cysts and fistulas of the first branchial cleft
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Cysts and fistulas of the fourth branchial pouch
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Cysts and fistulas of the second branchial cleft
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Dermoid cysts of all head and neck locations
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Cleft lip/palate disorders
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Atipical cysts and fistulas
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Branchial anomalies and fibrochondromas
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Ear aplasia
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Ossicles malformations – minor aplasia
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Outer ear malformations
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Major aplasia
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Congenital stenosis of external auditory canals – including 18q deletion
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Spina bifida (myelomeningocele)
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Congenital cytomegalovirus infection (CMV)
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Congenital hydrocephalus
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Low urinary tract obstruction
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Aortic valve stenosis
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Diaphragmatic hernia
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Monochorionic pregnacy or twin-to-twin transfusion syndrome
Research Models and Biological Samples
Protocols

Fetoscopic laser ablation of placental anastomoses

Clinical Resources
Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Tracheal hypoplasia
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Tracheamalacia
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Tracheoesophageal fistula
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Recurrent resporatoryl papillomatosis
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Laryngeal-tracheal papillomatosis
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Constitution of a national cohort

Therapeutic and Diagnostic Development
Laryngo-tracheal clefts
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Laryngomalacia
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Larynx mobility anomalies
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Infantile hemangioma
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Hypoplasia and laryngeal artresia
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Waardenburg syndrome
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

35 patient cohort

Therapeutic and Diagnostic Development
Hirschprung disease
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

> 100 patient cohort

Therapeutic and Diagnostic Development
Congenital central hypoventilation syndrome (Ondine syndrome)
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Nasolacrimal duct cysts
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Congenital meningocele and meningocephalocele
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Congenital nasal pyriform aperture stenosis
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Choanal atresia
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Heterotaxia
Research Models and Biological Samples
In vivo models

IFT20 cKO mice

In vivo models

IFT20 KO mice

In vivo models

Nodal inactivation mice

Clinical Resources
Therapeutic and Diagnostic Development
Situs inversus
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Atrio ventricular canal defect (AVCD)
Research Models and Biological Samples
In vivo models

Nodal inactivation (conditional KO mouse model)

Clinical Resources
Patient Cohorts

Patient cohort

Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Double outlet right ventricle (DORV)
Research Models and Biological Samples
In vivo models

Nodal inactivation (conditional KO mouse model)

Clinical Resources
Patient Cohorts

Patient cohort

Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Transposition of the great arteries (TGA)
Research Models and Biological Samples
In vivo models

Nodal inactivation (conditional KO mouse model)

Clinical Resources
Patient Cohorts

Patient cohort

Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Leber congenital amaurosis (LCA)
Research Models and Biological Samples
In vivo models

Cep290 del/del mouse model

In vivo models

Cep290 Ki mouse models

Samples

DNA and fibroblasts from LCA10 patients

In vitro models

Fibroblasts from patients

Protocols

Injection of naked 2′-O-Methyl-phosphorothioate (2’OMePS) antisense-oligonucleotides (AON) for LCA10 patients

Clinical Resources
Patient Cohorts

>700 patient cohort

Therapeutic and Diagnostic Development
Patents

Methods for the treatment of retinal dystrophies by exon6 skipping strategy

Patents

Methods for performing antisense oligonucleotide-mediated exon skipping in the retina of a subject in need thereof

Patents

Compositions and methods for the treatment of leber congenital amaurosis

Rod-cone dystrophies including X-linked retinisis pigmentosa (XLRP)
Research Models and Biological Samples
Samples

DNA samples from patients with XLRP

Clinical Resources
Patient Cohorts

300 patientscohort

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Short-rib polydactyly
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Jeune asphyxiating thoracic dystrophy
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Ellis Van Creveld syndrome
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Anorectal malformations
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Congenital sensorineural hearing loss
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
clinical trial

NCT04563884 – Validity of the French Version of Deafness Questionnaires for Children and Adolescents

clinical trial

NCT05402813 – Natural History in Children up to 10 Years With Moderate to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes

clinical trial

NCT05423548 – Analysis of Risk Factors of Neurodevelopmental Disorder in Deaf Infants Under Ten Months of Age.

Cortical development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
PIK3CA-related overgrowth spectrum (PROS)
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Pulmonary arterial hypertension
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Nephronophthisis
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

> 1500 patients with NPH

Therapeutic and Diagnostic Development
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)
Research Models and Biological Samples
Clinical Resources
Patient Cohorts

Patient cohort

Therapeutic and Diagnostic Development
clinical trial

NCT05415540 – Evolution of the Quality of Life and Experience of Young Women With Utero-vaginal Aplasia (MRKHPSY)