Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 (PRIMAculture)

Fondation Ophtalmologique Adolphe de Rothschild

Status

Terminated

Conditions

Ectodermal Dysplasia

Study type

Observational

Funder types

Other

NETWORK

Identifiers

NCT02896387

EGN_2016_14

Details and patient eligibility

About

Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly, Ectodermal dysplasia, palate Key for cleft lip and palate (EEC) and Ankyloblepharon, Ectodermal dysplasia, cleft lip and palate (AEC). Apart from symptomatic treatment, no cure is available. To understand the molecular defects associated with this disease and to identify therapeutic tools, a research team modelized the disease by reprograming EEC and AEC patient fibroblasts in pluripotent stem cells (iPSC), then induced iPSC differentiation in patients and controls epidermal (skin) and limbic (cornea) cells and demonstrated that the mutated cells can reproduce in vitro the abnormalities observed in patients.

P63 gene belongs to the family of p53 gene. The functions of the two proteins are very similar. Data suggest that molecule Prima could reactivate the p63 protein mutated in patients and thus alleviate skin defect healing and limbic regeneration.

Enrollment

5 patients

Sex

All

Ages

7+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria