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

NCT02896387 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 5

Last updated 2022-05-03

No results posted yet for this study

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.

Conditions

  • Ectodermal Dysplasia

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    collaborator OTHER_GOV

  • Fondation Ophtalmologique Adolphe de Rothschild

    lead NETWORK

Principal Investigators

  • Eric GABISON · Fondation ophtalmologique de Rothschild

Eligibility

Min Age
7 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-03-03
Primary Completion
2022-01-01
Completion
2022-01-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02896387 on ClinicalTrials.gov