This project is jointly funded by Action Medical Research and Action for A-T.

How are children’s lives affected now?

Children with A-T have faults in a gene called ATM. The ATM gene carries the instructions for making a protein that helps keep cells healthy. When this protein is missing or doesn’t work properly, cells can become damaged and die – leading to a range of debilitating symptoms that affect different parts of the body.

“A-T causes progressive nerve damage in the part of the brain that controls movement and coordination. This leads to walking and balance difficulties that usually start in early childhood and get worse over time,” says Dr Kemp. “Children also have a weakened immune system, making them more vulnerable to infections and cancer.”

A haematopoietic stem cell transplant (HSCT) could potentially restore healthy immune function and reduce the risk of serious complications. The standard procedure involves wiping out the existing immune system before rebuilding it with healthy blood stem cells* from a matched donor. 

“However, this approach is considered too risky for children with A-T as they are extremely sensitive to the drugs and radiation used to prepare the body for the transplant,” says Dr Kemp. “There is an urgent need for safer alternatives.”

*Blood stem cells are cells that can grow and divide into any type of blood cell.

How could this research help?

“We’re developing a new gene therapy approach that aims to correct the root cause of A-T in the patient’s own blood stem cells,” says Dr Kemp.

The approach uses a harmless virus to deliver a working copy of the ATM gene into blood stem cells inside the patient’s body. These corrected cells can then help rebuild a healthy immune system while avoiding the risks of a standard HSCT.

“We will firstly test this gene therapy on blood stem cells from patients with A-T grown in the laboratory,” says Dr Kemp. “We will then use these cells to generate a specialised type of immune cell found in the brain – and explore whether this treatment improves their health and function.”

If the results are promising, it could potentially help accelerate the development of this innovative approach towards clinical trials.