An observational study in Ectodermal Dysplasia, sponsored by Fondation Ophtalmologique Adolphe de Rothschild. Terminated at 2 sites in France. Open to participants aged 7 Years and older. Per ClinicalTrials.gov, last updated 2022-05-03.
Sponsored by Fondation Ophtalmologique Adolphe de Rothschild · Observational
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.
27 studies on the registry are indexed under Ectodermal Dysplasia; 8 are open to participants now.
This study's enrollment of 5 is below the median of 65 across 22 observational studies indexed under Ectodermal Dysplasia.
Browse Ectodermal Dysplasia studies →Fondation Ophtalmologique Adolphe de Rothschild is the lead sponsor of 315 studies on the registry; 77 are open to participants now.
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Patient with genetic pathology of the ocular surface
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Exclusion Criteria:
the differentiation of corneal epithelium by histological observation
the differentiation of corneal epithelium by histological observation
Time frame: baseline
Plan to share: Undecided
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This study is terminated, as verified in Apr 2022. You cannot join it, but the record below documents what was studied.
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