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

Optic Disk Drusen Clinical Trial

— GENODD  

Official title:

Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05736237
• Other study ID #: H-20027930
• Status: Recruiting
• Start date: May 1, 2023
• Est. completion date: May 31, 2024

Study information

• Verified date: February 2024
• Source: Copenhagen University Hospital at Herlev
• Contact: alvilda H steensberg
• Phone: 4528257051
• Email: alvilda.hemmingsen.steensberg.01[@]regionh.dk
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 60
• Est. completion date: May 31, 2024
• Est. primary completion date: May 31, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 100 Years

Eligibility

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

Related Conditions & MeSH terms

• Optic Disk Drusen

Intervention

Genetic:
• Whole exome sequencing
With Next Generation Sequenzing

Locations

Country	Name	City	State
Denmark	Department of Ophthalmology	Glostrup

Sponsors (1)

Lead Sponsor	Collaborator
Copenhagen University Hospital at Herlev

Country where clinical trial is conducted

Denmark, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Candidate gene	Genetics variants shared by the families will be compared with findings in the remaining families and identical genes will undergo further analysis.	2023-2024