New therapy developed to treat lysosomal storage disease

Scientists at the University of Manchester, UK, have developed a new gene therapy that will hopefully be used to treat children with Sanfilippo, a lysosomal storage disease.

A licence deal was signed by the university with US-based biotech Phoenix Nest Inc to take the treatment to the next stage, which will involve a clinical trial on patients with Sanfilippo disease type C, a rare inherited neurodegenerative lysosomal storage disease.

The technology, developed by Professor Brian Bigger’s laboratory in collaboration with Dr Els Henckaerts’ laboratory at King’s College London, involves using a modified virus called adeno-associated viral vector (AAV), which has been specifically altered to efficiently deliver the missing HGSNAT gene to the brain to treat the disease.

Along with an international group of scientists, the research team was able to demonstrate behavioural and brain correction of Sanfilippo disease type C in mice.

What is Sanfilippo C disease?

Sanfilippo C disease affects children as early as three years of age, which can result in severe and rapidly progressive brain disease and neurological symptoms.

Currently, there is no effective treatment option for the disease as the protein is transmembrane and cannot move between cells.

This means that maximal vector distribution within the brain is critical for treatment success.

Successfully treating the condition

Bigger, a professor of cell and gene therapy at the University of Manchester, said: “This gene therapy technology recently published in the journal Brain will be used by Phoenix Nest to treat Sanfilippo syndrome Type C.

“Sanfilippo is an incredible challenge as you have to be able to treat so many cells in the brain for complete success.

“In this work, the combination of the true type vector with improved brain distribution and the method of delivery were both critical for success.”

He continued: “We were really impressed that we were able to completely correct working memory and hyperactivity in the mouse model – traits shared by children with the disease.

“Working together with Phoenix Nest Inc we hope this therapy will be successful in treating children with MPSIIIC in the next few years.”