Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children (ALAFOR)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03959605
Recruitment Status : Not yet recruiting
First Posted : May 22, 2019
Last Update Posted : December 11, 2019
Sponsor:
Information provided by (Responsible Party):
Fondation Ophtalmologique Adolphe de Rothschild

Study Description
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Brief Summary:
Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme

Condition or disease Intervention/treatment
Albinism, Ocular Genetic: blood sample for genetic test Diagnostic Test: Ophtalmological examination

Study Design
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Layout table for study information
Study Type : Observational
Estimated Enrollment : 72 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
Estimated Study Start Date : February 2020
Estimated Primary Completion Date : February 2021
Estimated Study Completion Date : February 2021

Resource links provided by the National Library of Medicine


Groups and Cohorts
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Intervention Details:
  • Genetic: blood sample for genetic test
    detection of pathogenic variants among the 19 genes known to be involved in albinism
  • Diagnostic Test: Ophtalmological examination
    measurement of visual acuity, OCT and OCTA

Outcome Measures
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :
  1. Number of genetics variants [ Time Frame: 1 month ]
    among the genes involved in albinism, identification of those presents in parents of children with albinism


Eligibility Criteria
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
parents without symptom of albinism (except fovea plana) of children with albinism
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
Contacts and Locations
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03959605


Contacts
Layout table for location contacts
Contact: Martine MAUGET FAYSSE 0148036437 ext +33 mmfaysse@for.paris
Contact: Vivien VASSEUR vvasseur@for.paris

Locations
Layout table for location information
France
Fondation A de Rothschild
Paris, France, 75019
Contact: Martine MAUGET FAYSSE       mmfaysse@for.paris   
Sponsors and Collaborators
Fondation Ophtalmologique Adolphe de Rothschild
Investigators
Layout table for investigator information
Principal Investigator: Martine MAUGET FAYSSE Fondation A. de Rothschild
More Information
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Layout table for additonal information
Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov Identifier: NCT03959605    
Other Study ID Numbers: MMT_2019_2
First Posted: May 22, 2019    Key Record Dates
Last Update Posted: December 11, 2019
Last Verified: December 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Albinism
Albinism, Ocular
Eye Diseases, Hereditary
Eye Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
 Metabolism, Inborn Errors
Skin Diseases, Genetic
Hypopigmentation
Pigmentation Disorders
Skin Diseases
Metabolic Diseases