Ability of a Molecule (Prima) to Restore Physiological Di... | NCT02896387

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

NCT02896387

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Status

Terminated

Last Update Posted

May 3, 2022Actual

Enrollment

5Actual

Phase

Not provided

Conditions

Ectodermal Dysplasia

Interventions

Not provided

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2022

Overall Recruitment Status or Expanded Access Status

Terminated

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Laboratory change, stem cell circuit stopped

Expanded Access Info

Start Date

Mar 3, 2017Actual

Primary Completion Date

Jan 1, 2022Actual

Completion Date

Jan 1, 2022Actual

First Submitted Date

Aug 29, 2016

First Submission Date that Met QC Criteria

Sep 6, 2016

First Posted Date

Sep 12, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 27, 2022

Last Update Posted Date

May 3, 2022Actual

Name	Class
Institut National de la Santé Et de la Recherche Médicale, France	OTHER_GOV

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

5Actual

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

7 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Patient with genetic pathology of the ocular surface

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Eric GABISON	Fondation ophtalmologique de Rothschild	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Fondation Opthalmologique A de Rothschild		Paris		75019	France
Hopital Necker

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D004476	Ectodermal Dysplasia

Ancestor Terms

ID	Term
D000015	Abnormalities, Multiple
D000013	Congenital Abnormalities
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D012868	Skin Abnormalities

Browse Leaves

Not provided

Browse Branches

Not provided