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

Ectodermal Dysplasia Clinical Trial

— PRIMAculture  

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02896387
• Other study ID #: EGN_2016_14
• Status: Terminated
• Start date: March 3, 2017
• Est. completion date: January 1, 2022

Study information

• Verified date: April 2022
• Source: Fondation Ophtalmologique Adolphe de Rothschild
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 5
• Est. completion date: January 1, 2022
• Est. primary completion date: January 1, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 7 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Ectodermal Dysplasia

Locations

Country	Name	City	State
France	Fondation Opthalmologique A de Rothschild	Paris
France	Hopital Necker	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Fondation Ophtalmologique Adolphe de Rothschild	Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	the differentiation of corneal epithelium by histological observation	the differentiation of corneal epithelium by histological observation	baseline