Liquid fat could change the lives of 40 young Australians
Ataxia-telangiectasia (A-T) is a rare inherited disorder that affects the nervous, immune, respiratory and other body systems. Unfortunately, this is the reality for 40 Australian children who will most likely be in a wheelchair by the time they are 10.
In the hope of improving the prognosis and quality of life for these 40 young children and others affected by A-T, a team of physicians and scientists from Wesley Medical Research and The University of Queensland has recently
discovered that a disruption in certain metabolic molecular mechanisms in patients can be targeted by a dietary fat supplement. This ground-breaking discovery will now be tested in a clinical trial made possible through financial support from Wesley Medical Research and a $2.46 million federal government Medical Research Future Fund grant.
Paediatrician at The Wesley Hospital, Professor David Coman has described the disease as a combination of “the worst parts” of cerebral palsy, muscular dystrophy and cystic fibrosis. These kids are also at a higher risk of cancer. “Younger children will begin walking, albeit wobbly, but by adolescence they will be wheelchair-bound; it’s a quick, degenerative and awful process.”
The funding has opened new doors as the theory has, until now, only been measured anecdotally in individual children’s biological markers.
“We now have the means to run a clinical trial to test if the supplement is clinically useful for treating A-T and can stimulate anaplerosis,” (a metabolic pathway that leads to increased energy availability) Professor Coman said. He added that if successful, it would be a low-cost treatment with minimal side-effects. This study will be carried out at Wesley Medical Research.
“We are also looking forward to hosting our bi-annual A-T Super Clinics again at Wesley Medical Research, which have been put on hold due to COVID-19. Having a sense of community is so important for these families and the A-T Super Clinics enable much-needed clinical care, emotional support and an overall sense of hope.” Dr Claudia Giurgiuman, General Manager, Wesley Medical Research said.