Where are we?
There are so many exciting efforts going into Tay-Sachs, Canavan, GM1, Sandhoff and allied disease research it would be impossible to name them all here. The following pages serve as a summary of the recent research efforts and progress in the development of clinical trials.
Various natural history studies have been completed in individuals with these diseases, and we thank the families of all of those who have participated. These studies have been essential in helping to determine what each disease looks like clinically. They also provide definitive biological data, including MRI images of the brain, blood markers and saliva markers. These specific markers will provide comparison which can then be used determine how well a treatment works when there are drug therapies in clinical trials.
There have also been investigations into the different types of genetic mutations in different populations which cause these diseases. This also provides data which can help with early and efficient identification of new patients. It could also provide future predictive measures of the severity of the disease and personalized treatment opportunities.
A study is also underway in Canada to investigate the efficacy of an online educational model, which is being shown to individuals of Ashkenazi Jewish descent prior to carrier screening. Learn more at ClinicalTrials.gov.
Literature and Reviews
To view a collection of recent scientific literature, news and reviews, visit Research News and Publications