Sanfilippo Syndrome Type B (MPS IIIB) Clinical Trial Continues to Progress

According to a story from, the biopharmaceutical company Abeona Therapeutics, Inc. recently issued an announcement in regards to the company’s Phase 1/2 clinical trial, which is testing the company’s investigational gene therapy ABO-101 as a treatment for Sanfilippo syndrome type B. The trial has completed the dosing of patients belonging to the first cohort, and the first patient in the second cohort has just received the therapy for the first time. Abeona is committed to the development of cell and gene therapies for a range of serious diseases.

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 B, the mutations affect the NAGLU 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.

ABO-101 And The Clinical Trial

ABO-101 is intended as a single-use gene therapy, meaning that after a single administration the patient will experience long term clinical benefit, assuming that the therapy is effective. The therapy uses an AAV vector in order to deliver a corrected copy of the NAGLU gene into the cells that are affected by Sanfilippo syndrome type B. The clinical trial is expected to involve a total of nine patients who are at least six months of age. The two cohorts in the study are intended to test two different doses of the therapy. 

As the treatment of Sanfilippo syndrome in all of its forms remains largely supportive and symptomatic, the development of an effective gene therapy for the disorder would be a major breakthrough in treatment. Keep an eye out for the results of this trial, because they could definitely be a big deal for those affected by this rare disease.

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