Stem cell therapy clinical trials

Orchard Therapeutic's stem cell-based gene therapy program for Sanfilippo Types A and B

Dr Brian Bigger from The University of Manchester has developed an "autologous ex-vivo gene therapy" for Sanfilippo types A and B. It works by taking the patient's own stem cells (from the blood or bone marrow) and using a virus to deliver a healthy copy of the faulty gene (SGSH for Type A or NAGLU for Type B). These cells are then transplanted back into the body.  

Bone marrow transplants have been previously tried as a treatment for Sanfilippo, but they were largely unsuccessful because the cells did not produce enough of the enzyme that is missing. This approach aims to boost the amount of enzyme produced by the transplanted cells and has the advantage that the patient’s own cells are used, lowering the risk of transplant rejection.

The University of Manchester has signed a licensing agreement with Orchard Therapeutics to bring its stem cell gene therapy program to human clinical trial.  

In May 2019 it was announced that a two-year-old boy with Sanfilippo Type A received this experimental therapy in Manchester, under what is called a “Specials” licence. Results were presented at the WORLD Conference in Orlando in February 2020 showing increase in SGSH enzyme activity in the blood and reduction of GAGs in the urine, CSF and plasma. No cognitive testing results are available yet but was reported that the boy was doing well. However, it is still too soon draw any conclusions about the effectiveness of this approach.

Orchard Therapeutics has now launched a full trial at Royal Manchester Children’s Hospital. For more information, please read the summary on

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