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Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium (NCT02896387)

Institut National de la Santé Et de la Recherche Médicale, France
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.
Ages eligible for Study
7 Years and older
Genders eligible for Study
All
Accepts Healthy Volunteers
No
Inclusion Criteria:
  • Patient with genetic pathology of the ocular surface
  • Age ≥ 7 years
Exclusion Criteria:
  • Agonal glaucoma
  • low vision mostly related to retinal pathology
  • Pregnant or breast-feeding patient

2 locations

France (2)
  • Fondation Opthalmologique A de Rothschild
    recruiting
    Paris, France, 75019
  • Hopital Necker
    not yet recruiting
    Paris, France, 75019
Status:
recruiting
Type:
Observational
Phase:
-
Start:
02 March, 2017
Updated:
11 May, 2017
Participants:
60
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