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Clinical trial

Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen

ID
Name
H-20027930
Description
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.
Trial arms
Trial start
2023-05-01
Estimated PCD
2024-05-31
Trial end
2024-05-31
Status
Recruiting
Treatment
Whole exome sequencing
With Next Generation Sequenzing
Arms:
Families with optic disc drusen
Size
60
Primary endpoint
Candidate gene
2023-2024
Eligibility criteria
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
Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'FAMILY_BASED', 'timePerspective': 'CROSS_SECTIONAL'}, 'enrollmentInfo': {'count': 60, 'type': 'ESTIMATED'}}
Updated at
2024-02-07

1 organization

1 product

1 indication

Organization
Copenhagen University Hospital at Herlev
Product
Whole exome sequencing
Indication
Optic Disc Drusen