NCT02896387

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.

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Mar 2017

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

August 29, 2016

Completed
14 days until next milestone

First Posted

Study publicly available on registry

September 12, 2016

Completed
6 months until next milestone

Study Start

First participant enrolled

March 3, 2017

Completed
4.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2022

Completed
Last Updated

May 3, 2022

Status Verified

April 1, 2022

Enrollment Period

4.8 years

First QC Date

August 29, 2016

Last Update Submit

April 27, 2022

Conditions

Ectodermal Dysplasia

Outcome Measures

Primary Outcomes (1)

  • the differentiation of corneal epithelium by histological observation

    the differentiation of corneal epithelium by histological observation

    baseline

Eligibility Criteria

Age7 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patient with genetic pathology of the ocular surface

You may qualify if:

  • Patient with genetic pathology of the ocular surface
  • Age ≥ 7 years

You may not qualify if:

  • Agonal glaucoma
  • low vision mostly related to retinal pathology
  • Pregnant or breast-feeding patient

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Fondation Opthalmologique A de Rothschild

Paris, 75019, France

Location

Hopital Necker

Paris, 75019, France

Location

MeSH Terms

Conditions

Ectodermal Dysplasia

Condition Hierarchy (Ancestors)

Abnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornSkin DiseasesSkin and Connective Tissue Diseases

Study Officials

  • Eric GABISON

    Fondation ophtalmologique de Rothschild

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
CROSS SECTIONAL
Sponsor Type
NETWORK
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 29, 2016

First Posted

September 12, 2016

Study Start

March 3, 2017

Primary Completion

January 1, 2022

Study Completion

January 1, 2022

Last Updated

May 3, 2022

Record last verified: 2022-04

Locations

FR(2)