According to a story from Sanfilippo News, the healthcare tech company RDMD has recently announced that it has raised $14 million in Series A financing that will be dedicated towards rare disease research and drug development. Diseases that will be focused upon include Sanfilippo syndrome, a rare lysosomal storage disorder. RDMD is developing a patient-oriented technology platform in order to improve the efficiency of rare disease research and drug development.
About Sanfilippo Syndrome
Sanfilippo syndrome, which is also known as mucopolysaccharidosis III, is a rare genetic lysosomal storage disease. It is linked to a deficiency in the enzyme responsible for the breakdown of heparan sulfate. There are four different types of Sanfilippo syndrome and each one is caused by a different genetic mutation. In type A, the mutation affects the SGSH gene. The mutation caused is the only defining characteristic of the different types, which otherwise present similarly. Symptoms include behavioral abnormalities, dementia, sleep disturbances, difficulty speaking, developmental delays, deafness, and loss of movement. There are currently no disease modifying therapies available for this disorder. However, bone marrow replacement can be useful if implemented early. Most patients do not survive beyond their teenage years, but some can survive into their 30’s. To learn more about Sanfilippo syndrome, click here.
Currently, the platform has the capacity to operate in 12 different disease states and conditions, but with the new funding, RDMD aims to expand capacity to 20 diseases in total over the next year. From there, research studies will be initiated on each disease. RDMD works closely with academic and patient organizations as part of the platform. The company has partnered with the Cure Sanfilippo Foundation as part of its research into Sanfilippo syndrome, for example. Learn more about this organization here.
To develop the platform, RDMD has gathered relevant patient data from over 1,500 different hospitals in the US. The company ultimately aims to expand its operations into Europe and it has also recently been making inroads into Canada. RDMD has also created an app for patients that allows them to safely participate in research online.
Curious in getting involved in RDMD’s Sanfilippo syndrome research? Click here.