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

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

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02896387

Acronym

PRIMAculture

Enrollment

Registered

2016-09-12

Start date

2017-03-03

Completion date

2022-01-01

Last updated

2022-05-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Ectodermal Dysplasia

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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

7 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
the differentiation of corneal epithelium by histological observation	baseline	the differentiation of corneal epithelium by histological observation

Countries

France

Outcome results