Genetic Determinant of Foveolar Hypoplasia in Parents of... | NCT03959605

Studies
Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

NCT03959605

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Status

Completed

Last Update Posted

Oct 21, 2021Actual

Enrollment

48Actual

Phase

Not provided

Conditions

Albinism, Ocular

Interventions

blood sample for genetic test
Ophtalmological examination

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

Oct 2021

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 6, 2019Actual

Primary Completion Date

Feb 2, 2021Actual

Completion Date

Oct 1, 2021Actual

First Submitted Date

May 18, 2019

First Submission Date that Met QC Criteria

May 21, 2019

First Posted Date

May 22, 2019Actual

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

Oct 20, 2021

Last Update Posted Date

Oct 21, 2021Actual

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

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

48Actual

Arms/Interventions Module

Arm Groups

Not provided

Interventions

Name	Type	Description	Arm Group Labels	Other Names
blood sample for genetic test	Genetic	detection of pathogenic variants among the 19 genes known to be involved in albinism
Ophtalmological examination	Diagnostic Test	measurement of visual acuity, OCT and OCTA

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Number of genetics variants	among the genes involved in albinism, identification of those presents in parents of children with albinism	1 month

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

children with albinism
father and mother of children with albinism

Exclusion Criteria:

sign of albinism except fovea plana in father or mother of children with albinism
ophthalmological abnormalities making access to the fundus with OCT impossible

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

parents without symptom of albinism (except fovea plana) of children with albinism

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Martine MAUGET FAYSSE	Fondation A. de Rothschild	Principal Investigator

Locations

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

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
D016117	Albinism, Ocular

Ancestor Terms

ID	Term
D000417	Albinism
D015785	Eye Diseases, Hereditary
D005128	Eye Diseases
D030342	Genetic Diseases, Inborn

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D001800	Blood Specimen Collection
D005820	Genetic Testing

Ancestor Terms

ID	Term
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis

Browse Leaves

Not provided

Browse Branches

Not provided