Lysosomal diseases are a group of inherited metabolic disorders, most of which are fatal. They are caused by defects in proteins that are critical to the function of lysosomes, which are the organelles within cells responsible for breakdown and recycling of cellular components. When this system is not functioning properly, it leads to accumulation of non-digested material within cells, ultimately leading to dysfunction and even cell death.
SOAR (Support of Accelerated Research for NPC Disease) was created in 2008 to find a cure for one of the most devastating lysosomal diseases, Niemann Pick Type C (NPC). There is no current effective treatment or cure for NPC, which ravages the bodies and minds of its victims, who are all likely to experience seizures, psychosis, depression and hallucinations. Their speech becomes slurred; they have difficulty swallowing, often requiring a feeding tube. Their median lifespan is 16 years old.
Because it is a progressive, neurological disorder, one of NPC's primary symptoms is dementia. As a result, research into NPC also offers a profound opportunity to understand – and someday to treat and cure – more common forms of dementia such as Alzheimer's, which our parents, grandparents, and we ourselves may face.
SOAR was created by parents and scientists as a grassroots response to the absence of treatments for this terminal disease. The SOAR collaborative is comprised of internationally recognized scientists from leading institutions where NPC research is conducted, including the Albert Einstein College of Medicine, Washington University of St. Louis, Mt. Sinai School of Medicine and Oxford University. The researchers function as a tightly integrated unit allowing for free scientific exchange and have established an extensive network of scientific collaborators. Click here to learn more about SOAR.