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

April 27, 2022 updated by: Fondation Ophtalmologique Adolphe de Rothschild

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

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.

Study Overview

Status

Terminated

Conditions

Study Type

Observational

Enrollment (Actual)

5

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75019
        • Fondation Opthalmologique A de Rothschild
      • Paris, France, 75019
        • Hopital Necker

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

7 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patient with genetic pathology of the ocular surface

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
the differentiation of corneal epithelium by histological observation
Time Frame: baseline
the differentiation of corneal epithelium by histological observation
baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Collaborators

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

Investigators

  • Principal Investigator: Eric GABISON, Fondation Ophtalmologique de Rothschild

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 3, 2017

Primary Completion (Actual)

January 1, 2022

Study Completion (Actual)

January 1, 2022

Study Registration Dates

First Submitted

August 29, 2016

First Submitted That Met QC Criteria

September 6, 2016

First Posted (Estimate)

September 12, 2016

Study Record Updates

Last Update Posted (Actual)

May 3, 2022

Last Update Submitted That Met QC Criteria

April 27, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • EGN_2016_14

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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