NCT03959605

Brief Summary

Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme

Trial Health

87
On Track

Trial Health Score

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

Enrollment
48

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jan 2019

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

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

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 6, 2019

Completed
4 months until next milestone

First Submitted

Initial submission to the registry

May 18, 2019

Completed
4 days until next milestone

First Posted

Study publicly available on registry

May 22, 2019

Completed
1.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 2, 2021

Completed
8 months until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2021

Completed
Last Updated

October 21, 2021

Status Verified

October 1, 2021

Enrollment Period

2.1 years

First QC Date

May 18, 2019

Last Update Submit

October 20, 2021

Conditions

Albinism, Ocular

Outcome Measures

Primary Outcomes (1)

  • Number of genetics variants

    among the genes involved in albinism, identification of those presents in parents of children with albinism

    1 month

Interventions

blood sample for genetic testGENETIC

detection of pathogenic variants among the 19 genes known to be involved in albinism

Ophtalmological examinationDIAGNOSTIC_TEST

measurement of visual acuity, OCT and OCTA

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • children with albinism
  • father and mother of children with albinism

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Fondation A de Rothschild

Paris, 75019, France

Location

MeSH Terms

Conditions

Albinism, Ocular

Interventions

Blood Specimen CollectionGenetic Testing

Condition Hierarchy (Ancestors)

AlbinismEye Diseases, HereditaryEye DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsSkin Diseases, GeneticHypopigmentationPigmentation DisordersSkin DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative TechniquesGenetic TechniquesGenetic ServicesHealth ServicesHealth Care Facilities Workforce and ServicesDiagnostic ServicesPreventive Health Services

Study Officials

  • Martine MAUGET FAYSSE

    Fondation A. de Rothschild

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
NETWORK
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 18, 2019

First Posted

May 22, 2019

Study Start

January 6, 2019

Primary Completion

February 2, 2021

Study Completion

October 1, 2021

Last Updated

October 21, 2021

Record last verified: 2021-10

Locations

FR(1)