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. Today's landscape now includes current and upcoming clinical trials, natural history studies, and potential therapies on the horizon. NTSAD has its finger on the pulse of all the research, studies and programs currently in development.
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.
Literature and Reviews
To view a collection of recent scientific literature, news and reviews, visit Research News and Publications