Longitudinal evaluation of disease progression in MacTel Version 1.2
Research type
Research Study
Full title
A NATURAL HISTORY OBSERVATION AND REGISTRY STUDY OF MACULAR TELANGIECTASIA TYPE 2 - THE MACTEL STUDY SUB-STUDY #2 – LONGITUDINAL STUDY FOR COLLECTION OF ADDITIONAL DATA AND BIOLOGIC SPECIMENS
IRAS ID
359454
Contact name
Catherine Egan
Contact email
Sponsor organisation
Moorfields Eye Hospital NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Macular telangiectasia type 2 (MacTel) is a slowly progressive,
neurodegenerative disease of the central retina with a particular retinal and
metabolic phenotype. MacTel is considered a complex disease with a
heterogeneous genetic background, and with multiple biological mechanisms
involved.
Though disease progression in MacTel is overall slow, it may differ significantly between individuals. Different markers of disease progression, including morphological and functional alterations, have previously been proposed and evaluated. Intermediate size of ellipsoid zone loss at baseline, outer retinal hyper-reflective changes, reduced ellipsoid zone reflectivity, loss of the interdigitation zone on optical coherence tomography as well as extended depletion of macular pigment have been shown to be associated with faster progression. Whether other imaging markers, metabolic changes,
genetic variants, systemic diseases, concomitant medication or dietary supplements may impact retinal disease progression, has not yet been systematically evaluated.
We hypothesize that
(I) Disease progression in MacTel is determined by multiple factors.
To assess determinants of retinal disease progression and to evaluate novel biomarkers and clinical endpoints we will use a multi-omics approach and evaluate retinal imaging, visual
function, participant-reported outcome measures, demographics, medical history, medication and supplement intake, genomics, metabolomics, transcriptomics and proteomics.
(II) Using this approach, we can then identify novel candidate endpoints that will be chosen and assessed for reliability, responsiveness to change over time, structure-function correlation, and participant relevance.REC name
London - Surrey Borders Research Ethics Committee
REC reference
25/PR/1525
Date of REC Opinion
23 Feb 2026
REC opinion
Further Information Favourable Opinion