Interim Gene Therapy Trial Data for Two Different Forms of Sanfilippo Syndrome Holds Promise

According to a story from, the biopharmaceutical company Abeona Therapeutics, Inc., recently announced the presentation of positive interim findings from two different phase 1/2 clinical trials. These trials were testing the company’s experimental gene therapies ABO-102 and ABO-101 as treatments for Sanfilippo syndrome types A and B, respectively. If these therapies continue to be successful in the clinical setting, then they have the potential to be a major game changer in the treatment of this rare genetic disorder. 

About Sanfilippo Syndrome (MPS III)

Sanfilippo syndrome, which is also known as mucopolysaccharidosis III (MPS 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 30s. To learn more about Sanfilippo syndrome, click here.


The results so far for treatment with ABO-102 (for the type A disease variant) have been promising. Three patients treated with the highest dose continued to demonstrate cognitive development for up to two years after treatment. These patients were 12 months, 19 months, and 27 months old. Patients in all cohorts saw improvements in a number of biomarkers, such as concentration of plasma heparan sulfate (HS), cerebrospinal fluid HS, and liver volume in the same time frame.


ABO-101 for type B has also shown signs of disease modifying activity. Like ABO-102, ABO-101 brought down HS levels in the plasma and cerebrospinal fluid and reduced liver volume. Concentrations of glycosaminoglycans (GAGs) were also reduced. So far, neither gene therapy has raised serious safety concerns, which is another positive sign.

While these are still only interim results, the data is nonetheless encouraging for the future of these experimental gene therapies.


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