An observational study in Optic Disk Drusen, sponsored by Copenhagen University Hospital at Herlev. Completed at 1 site in Denmark. Open to participants aged 18 Years to 100 Years. Per ClinicalTrials.gov, last updated 2024-08-02.
Sponsored by Copenhagen University Hospital at Herlev · Observational
The goal of this observational study is to learn about the genetic background for the development of optic disc drusen. The main question is:
Participants will have a blood sample taken and answer a questionnaire.
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.
Copenhagen University Hospital at Herlev is the lead sponsor of 76 studies on the registry; 10 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Families with ODD
Exclusion Criteria:
Genetic: Whole exome sequencing
With Next Generation Sequenzing
Candidate gene
Genetics variants shared by the families will be compared with findings in the remaining families and identical genes will undergo further analysis.
Time frame: 2023-2024
Plan to share: No — Data will only be shared with the project responsible unit
No publications or documents are linked to this record.
This study is completed, as verified in Aug 2024. You cannot join it, but the record below documents what was studied.
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Optic Disk Drusen
Copenhagen University Hospital at Herlev