The purpose of this protocol amendment is to meet the current and future needs of the MacTel Project’s collaborating investigators and continue meeting initial objectives. In addition, a third objective is to understand the mechanisms involved in…
ID
Source
Brief title
Condition
- Retina, choroid and vitreous haemorrhages and vascular disorders
Synonym
Research involving
Sponsors and support
Intervention
- No intervention
N.a.
Outcome measures
Primary outcome
<p>Not applicable</p>
Secondary outcome
<p>Not applicable</p>
Background summary
MacTel is a complex genetic disease, with no single gene responsible for the disease. The genetic variants identified through the MacTel Project sequencing efforts to date have been associated with increased risk of developing MacTel. These variants exhibit incomplete penetrance or are not the single factor causing disease. Because of this complex genetic landscape, no individual results can or will be provided to the site investigator or an individual participant regarding a person’s MacTel genetics.
Study objective
The purpose of this protocol amendment is to meet the current and future needs of the MacTel Project’s collaborating investigators and continue meeting initial objectives. In addition, a third objective is to understand the mechanisms involved in the disease etiology. Together, these three objectives work toward the overarching goal of finding possible causes, novel therapeutic treatments, preventions, or a definitive cure for MacTel Type 2
Study design
To accomplish these objectives, the single in-clinic study visit format will be retained. Data will be collected through updated and more detailed medical, ocular and medication histories. Imaging will be done, including additional advanced imaging procedures at sites that have the capability. Genetic sequencing will continue.
Intervention
Not applicable
Study burden and risks
neglectable risk (natural history)
FC Hartgers
Geert Grooteplein Zuid 10
Nijmegen 6525EZ
Netherlands
024-3613138
trialcentrum.ohk@radboudumc.nl
FC Hartgers
Geert Grooteplein Zuid 10
Nijmegen 6525EZ
Netherlands
024-3613138
trialcentrum.ohk@radboudumc.nl
Trial sites in the Netherlands
Listed location countries
Age
Inclusion criteria
1. Ability to review and understand the informed consent document and agree to the form’s contents. (In cases with significant visual impairment, the informed consent may be read to the participant); 2. Stated willingness to comply with all study procedures; 3. Male or female, aged >18; and 4. Diagnosed with or suspected to be affected by MacTel Type 2; OR an immediate family member of a NHOR participant with MacTel; OR a healthy volunteer (control) or a volunteer (control) affected with a disorder thought to be related to MacTel Type 2.
Exclusion criteria
1. Inability to provide informed consent or undergo required procedures; and 2. Confounding (excluding diabetic retinopathy) ocular disorder that impacts the ability of the Reading Center to analyze images.
Design
Recruitment
Medical products/devices used
IPD sharing statement
Plan description
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| Research portal | NL-009551 |