First Patient Dosed in Sanfilippo Syndrome Clinical Trial

According to a story from, the biopharmaceutical company Lysogene and the drug developer Sarepta Therapeutics, Inc., have recently announced that the first patient has been dosed in a Phase II/III clinical trial which is testing the experimental product LYS-SAF302. This investigational product is a gene therapy that is intended to treat Sanfilippo syndrome type A. 

About Sanfilippo Syndrome

Sanfilippo syndrome, which is also known as mucopolysaccharidosis III (MPS 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 LYS-SAF302

LYS-SAF302 is an experimental gene therapy that uses an adeno-associated virus (AAV) delivery system. Intended to be a single use therapy, this approach works by replacing the mutated SGSH gene with an unaltered copy so that the patient can begin producing the enzyme that is deficient in the disease on their own. Sanfilippo syndrome currently has no approved treatments that can modify the course of the disease so the success of this gene therapy would represent a major improvement in outcomes for Sanfilippo syndrome patients. 

The primary outcome for the trial is to see if the neurodevelopment of patients treated with LYS-SAF302 can stabilize or improve. This trial is expected to include 20 participants and will be administered at eight treatment sites located in the US and in Europe.

Hopefully LYS-SAF302 will be proven effective for Sanfilippo syndrome type A in this clinical trial.

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