GENODD: Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen Development

Sponsor

Copenhagen University Hospital at Herlev (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05736237

Collaborator

(none)

Enrollment

Anticipated Duration (Months)

Study Details

Study Description

Brief Summary

The goal of this observational study is to learn about the genetic background for the development of optic disc drusen. The main question is:

• Can one or more candidate genes be found?

Participants will have a blood sample taken and answer a questionnaire.

Condition or Disease	Intervention/Treatment	Phase
Optic Disk Drusen	Genetic: Whole exome sequencing

Detailed Description

The study is an international collaboration between University of Utah, University of Sydney, University of Valladolid, and University of Copenhagen. Patients with Optic disc drusen from 15 known optic disc drusen-families from different countries (USA, Australia, Spain and Denmark) are participating in this study.

Blood samples are drawn from each patient and their affected and unaffected family members, and DNA will be extracted. The investigators will do an Optical coherence tomography-scan (according to ODDS Consortium guidelines), and the participant will be asked to fill out the Visual Function Questionnaire (VFQ-25) including four additional questions about optic disc drusen.

The etiology of optic disc drusen will be analyzed with a Whole Exome Sequencing (WES), with the use of Next Generation Sequencing (NGS). Prior to WES, all participants will receive genetic counseling by a consultant to ensure awareness of possible secondary genetic findings.

Study Design

Study Type:

Observational

Anticipated Enrollment :

60 participants

Observational Model:

Family-Based

Time Perspective:

Cross-Sectional

Official Title:

Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen

Anticipated Study Start Date :

Apr 1, 2023

Anticipated Primary Completion Date :

Dec 31, 2023

Anticipated Study Completion Date :

May 31, 2024

Arms and Interventions

Arm	Intervention/Treatment
Families with optic disc drusen	Genetic: Whole exome sequencing With Next Generation Sequenzing

Arm

Intervention/Treatment

Families with optic disc drusen

Genetic: Whole exome sequencing

With Next Generation Sequenzing

Outcome Measures

Primary Outcome Measures

Candidate gene [2023-2024]
Genetics variants shared by the families will be compared with findings in the remaining families and identical genes will undergo further analysis.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 100 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Adult patients over the age of 18, who are capable of giving consent
Diagnosis of optic disc drusen and a minimum of 3 optic disc drusen-affected family members

Exclusion Criteria:

Less than 3 affected family members
Under the age of 18 or mentally disabled

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

Copenhagen University Hospital at Herlev

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Alvilda Steensberg, Principal Investigator, Rigshospitalet, Denmark

ClinicalTrials.gov Identifier:

NCT05736237

Other Study ID Numbers:

H-20027930

First Posted:

Feb 21, 2023

Last Update Posted:

Feb 22, 2023

Last Verified:

Feb 1, 2023

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Alvilda Steensberg, Principal Investigator, Rigshospitalet, Denmark

Optic disc drusen

Genetics

Additional relevant MeSH terms:

Optic Disk Drusen

Study Results

No Results Posted as of Feb 22, 2023