NCT05736237

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 2023

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 10, 2023

Completed
11 days until next milestone

First Posted

Study publicly available on registry

February 21, 2023

Completed
2 months until next milestone

Study Start

First participant enrolled

May 1, 2023

Completed
1.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 31, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 31, 2024

Completed
Last Updated

August 2, 2024

Status Verified

August 1, 2024

Enrollment Period

1.1 years

First QC Date

February 10, 2023

Last Update Submit

August 1, 2024

Conditions

Optic Disk Drusen

Keywords

Optic disc drusenGenetics

Outcome Measures

Primary Outcomes (1)

  • 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

Study Arms (1)

Families with optic disc drusen

Genetic: Whole exome sequencing

Interventions

Whole exome sequencingGENETIC

With Next Generation Sequenzing

Families with optic disc drusen

Eligibility Criteria

Age18 Years - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Families with ODD

You may qualify if:

  • 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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Department of Ophthalmology

Glostrup Municipality, 2600, Denmark

Location

MeSH Terms

Conditions

Optic Disk Drusen

Interventions

Exome Sequencing

Condition Hierarchy (Ancestors)

Optic Nerve DiseasesCranial Nerve DiseasesNervous System DiseasesEye Diseases

Intervention Hierarchy (Ancestors)

Whole Genome SequencingSequence Analysis, DNASequence AnalysisGenetic TechniquesInvestigative Techniques

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

February 10, 2023

First Posted

February 21, 2023

Study Start

May 1, 2023

Primary Completion

May 31, 2024

Study Completion

May 31, 2024

Last Updated

August 2, 2024

Record last verified: 2024-08

Data Sharing

IPD Sharing
Will not share

Data will only be shared with the project responsible unit

Locations

DK(1)