Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium
Trial Snapshot
- Phase
- Not Applicable
- Status
- Terminated
- Enrollment
- 5
- Locations
- 2
- Primary Endpoint
- the differentiation of corneal epithelium by histological observation
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Other
- Time Perspective
- Cross Sectional
Eligibility Criteria
- Ages
- 7 Years to — (Child, Adult, Older Adult)
- Sex
- 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
Outcomes
Primary Outcomes
the differentiation of corneal epithelium by histological observation
Time Frame: baseline
the differentiation of corneal epithelium by histological observation
Secondary Outcomes
No secondary outcomes reported