According to a story from Market Screener the biotechnology company Bioblast Pharma has announced a new partnership with Team Sanfilippo a nonprofit foundation which is committed to medical research related to the rare disease Sanfilippo syndrome. This partnership is intended to facilitate the testing of Bioblast’s unique protein stabilizer solution Trehalose as a treatment for the disease. If the initial results are promising, continued development and testing of Trehalose for Sanfilippo syndrome will proceed.
About Sanfilippo Syndrome
Sanfilippo syndrome, which is also known as mucopolysaccharidosis III, is 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 30s. To learn more about Sanfilippo syndrome, click here.
About The Partnership
The agreement between the two organizations will involve an open label study of Trehalose involving 20 patients with Sanfilippo syndrome. The trial was recently approved to move forward by the US Food and Drug Administration (FDA). While this study is intended as a proof-of-concept trial, Bioblast is optimistic that the treatment will have a positive impact on patients based on earlier studies and case reports.
About Trehalose
Trehalose is a type of protein stabilizer that has the capability of crossing the blood-brain barrier and is also capable of initiating autophagy, which is the normal process of the recycling of waste materials within cells. This process is affected in patients with Sanfilippo syndrome. The drug works by activating Transcription Factor EB, which could be useful therapeutic target for Sanfilippo syndrome and other forms of lysosomal storage disease. The ability to cross the blood-brain barrier is essential for Trehalose to treat the neurological manifestations of Sanfilippo syndrome.
Hopefully this trial will reveal a new potential therapeutic option for patients with this rare and ultimately lethal disease.
