MacTel Project
The MacTel Project comprises more than 30 centers in Europe, North America, the Middle East, and Australia, including clinical centers; genetics, reading, and coordinating centers; and several basic science laboratories. The Scientific Executive Committee consists of Alan Bird, Emily Chew, Ian Constable, Marty Friedlander, Mark Gillies, Bob Graham, and Frank Holz.
The project encompasses a natural history observation study that identifies MacTel patients and follows the progression of their disease; a genetics study of MacTel patients and their family members designed to identify genes and genetic variants that may be associated with susceptibility for MacTel; and an eye donor program to study the histology and pathology of MacTel eyes.
A cohort of 400 participants has been enrolled and is being followed annually in order to fully characterize the nature of the condition and its progression. Relatives of the study subjects are screened for the genetic study.
The clinical research aims of the project include characterizing the clinical features and natural history of MacTel from the earliest to the vision-threatening stages; collecting genetic samples of affected individuals and their families; promoting and publicizing the disease among colleagues as an important subject for research; gathering evidence on the results of treatments that have been employed for patients with MacTel; and conducting pilot clinical trials of potential therapies for MacTel that are emerging as treatments for other retinal vascular diseases.
The laboratory research objectives of the project include producing a more detailed understanding of the pathogenetic mechanisms of MacTel in both the early and critical stages; identifying a mouse model or models for MacTel; clarifying the genetic basis for MacTel in mouse models and humans; and identifying potential novel treatments, possibly including drugs, cytokines, or human progenitor cells.
In addition to these research initiatives, project members are also involved in developing and supporting a Web site to provide information for patients with MacTel.
Read more about this topic: Macular Telangiectasia
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