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

NCT ID: NCT02896387

Last Updated: 2022-05-03

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

5 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-03-03

Study Completion Date

2022-01-01

Brief Summary

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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.

Detailed Description

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Conditions

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Ectodermal Dysplasia

Study Design

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Observational Model Type

OTHER

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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
Minimum Eligible Age

7 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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

OTHER_GOV

Sponsor Role collaborator

Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Eric GABISON

Role: PRINCIPAL_INVESTIGATOR

Fondation ophtalmologique de Rothschild

Locations

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Fondation Opthalmologique A de Rothschild

Paris, , France

Site Status

Hopital Necker

Paris, , France

Site Status

Countries

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France

Other Identifiers

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EGN_2016_14

Identifier Type: -

Identifier Source: org_study_id

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