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

February 6, 2024 updated by: Alvilda Steensberg, Copenhagen University Hospital at Herlev

Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 100 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Families with ODD

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Candidate gene
Time Frame: 2023-2024
Genetics variants shared by the families will be compared with findings in the remaining families and identical genes will undergo further analysis.
2023-2024

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Copenhagen University Hospital at Herlev

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 1, 2023

Primary Completion (Estimated)

May 31, 2024

Study Completion (Estimated)

May 31, 2024

Study Registration Dates

First Submitted

February 10, 2023

First Submitted That Met QC Criteria

February 10, 2023

First Posted (Actual)

February 21, 2023

Study Record Updates

Last Update Posted (Estimated)

February 7, 2024

Last Update Submitted That Met QC Criteria

February 6, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • H-20027930

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Data will only be shared with the project responsible unit

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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