Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63
- Conditions
- Ectodermal Dysplasia
- Registration Number
- NCT02896387
- Lead Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- TERMINATED
- Sex
- All
- Target Recruitment
- 5
- Patient with genetic pathology of the ocular surface
- Age ≥ 7 years
- Agonal glaucoma
- low vision mostly related to retinal pathology
- Pregnant or breast-feeding patient
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method the differentiation of corneal epithelium by histological observation baseline the differentiation of corneal epithelium by histological observation
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (2)
Fondation Opthalmologique A de Rothschild
🇫🇷Paris, France
Hopital Necker
🇫🇷Paris, France