Optic Disk DrusenGENODDNCT05736237
Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen Development
An observational study of Optic Disk Drusen, run by Copenhagen University Hospital at Herlev at 1 site in Denmark.
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. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Optic Disk Drusen
- What is being tested?
- Whole exome sequencing
- How many people
- 20 participants
- Where
- 1 siteDenmark
- Study dates
- 1 May 2023to 31 May 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Families with ODD
Who may be able to join
- 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
Who cannot join
- Less than 3 affected family members
- Under the age of 18 or mentally disabled
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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.
- Conditions
- Optic Disk Drusen
- Being tested
- Whole exome sequencing
- Keywords
- Optic disc drusen, Genetics
- Medical subject headings
- Optic Disk Drusen
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole exome sequencingGenetic
With Next Generation Sequenzing
| Study group | Role | What they receive |
|---|---|---|
| Families with optic disc drusen | Not described Receives: Genetic: Whole exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Candidate gene
Genetics variants shared by the families will be compared with findings in the remaining families and identical genes will undergo further analysis.
Measured: 2023-2024
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Feb 2023
- Study start1 May 2023
- Primary completion31 May 2024
- Study completion31 May 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Optic Disk DrusenStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital at Herlev
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Alvilda Steensberg, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05736237
- Sponsor's protocol ID
- H-20027930
- Acronym
- GENODD
- Status last verified
- Aug 2024
- First submitted
- 10 Feb 2023
- Last updated
- 2 Aug 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Data will only be shared with the project responsible unit
Study at a glance
From the registry record, last updated by the sponsor on 2 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen
- ClinicalTrials.gov ID
- NCT05736237
- Acronym / sponsor ID
- GENODD / H-20027930
- Conditions
- Optic Disk Drusen
- Keywords
- Optic disc drusen, Genetics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Copenhagen University Hospital at HerlevUniversity, hospital or other
- Study start
- 1 May 2023 (actual)
- Primary completion
- 31 May 2024 (actual)
- Study completion
- 31 May 2024 (actual)
- First posted
- 21 Feb 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Families with optic disc drusen | – | Genetic: Whole exome sequencing |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Families with ODD
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (2 listed)
- Less than 3 affected family members
- Under the age of 18 or mentally disabled
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole exome sequencingWith Next Generation Sequenzing | Genetic | Families with optic disc drusen |
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Aug 2024.
- Individual participant dataSharing planned: No. Data will only be shared with the project responsible unit
Related trials for Optic Disk Drusen
Not yet recruitingObservational study
Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study
Neuro-Ophthalmology, Optic Neuropathies
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Optic Disk Drusen, run by Copenhagen University Hospital at Herlev at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Candidate gene (time frame: 2023-2024). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Aug 2024.