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Groundbreaking Stem Cell Therapy Trial Shows Potential Of Treating Genetic Childhood Disease


It’s not often we’re able to trial a new treatment for a fatal childhood disease—and certainly not one as promising as stem cell gene therapy.

But today we’re moving away from the old system of medicine and healthcare, with governments, clinicians, and commissioners alike realising that the one-size-fits-all approach to treating disease has failed, and a new, targeted and personalised approach is what is required.

Researchers at the university of Manchester and Central Manchester University Hospital NHS Foundation Trust (CMFT) are spearheading this approach with a new licensing agreement with Orchard Therapeutics, a UK-based clinical-stage biotechnology company.

The partnership will take a technique developed by the researchers for treating a fatal childhood disease—Sanfilippo disease—and allow it to be tested in human trials. This move carries the hope of leading to a treatment for a disease which currently has no cure, and potentially saving many children’s lives.

How Sanfilippo Disease Affects The Nervous System

Sanfilippo disease is part of a group of genetic diseases—neuro-metabolic disease—which affect the body’s ability to produce specific enzymes. Enzymes can be described as biological catalysts—they increase the rate of chemical reactions in the body and the recycling of material in the cells. If we don’t have enough specific enzymes or they fail to work properly, material builds up in the cells and causes progressive damage to the body.

In the case of Sanfilippo disease, there is a lack of an enzyme known as SGSH which helps break down sugars in the body—particularly the brain. This problem shows signs in a child’s early years, with symptoms such as hyperactivity, behavioural problems, and delayed development, and later seizures and difficulties in walking and swallowing.

When growing older, symptoms similar to dementia appear.  With no specific treatment available, life expectancy is short and many children die around the age of 18 years. This makes it paramount to find an effective cure for the disease soon—and this stem cell trial, which addresses the problem at its root, holds much hope for these children and their families.

Pioneering Stem Cell Treatments For Genetic Disease

As Sanfilippo is a genetic disease, to be successful its treatment needs to correct the way in which the genes of a patient’s stem cells are expressed.

By correcting a patient’s own stem cells, their bodies can begin to function in a way they should, releasing the missing enzyme it needs to break down sugars in the brain and body, and restoring healthy metabolism.

Researchers at Manchester university have achieved a method of extracting a patient’s stem cells from the bone marrow, delivering the SGSH gene to the cells, and implanting them back into the bone marrow to release the missing enzyme.

The outlook is positive, as researchers have confidence from the knowledge that stem cells from donor bone marrow can deliver such enzymes effectively, and that stem cell gene therapy has already been successful in several diseases similar to Sanfilippo.

This pioneering trial not only has the potential to treat and even cure Sanfilippo disease, but opens up a method for treating a plethora of other neurological and neuro-metabolic disorders, which affect the lives of thousands of children each year. This would be a significant move forward for stem cell therapy, and one step closer to making seemingly incurable genetic diseases, curable.

Prepare for the future of personalised stem cell therapy. Contact us today to find out how we can help safeguard the health of your children by storing stem cells from milk teeth.