Scientists at La Trobe University have received nearly $140,000 from charity Archie’s Embrace to investigate a genetic disorder that causes early-onset neurodegeneration in babies.
The disorder causes a deficiency of the enzyme ECHS1, leaving the body unable to digest and use specific amino and fatty acids.
Archie’s Embrace director Ros Melling said, “Gaining the science and research and strengthening knowledge on how to improve quality of life for these children is powerful. Many parents are told at the time of diagnosis that there is little hope, as there is currently no treatment. Research and data are limited, and this is what is needed to change treatment at the patient face by medical teams."
Research leader Dr Travis Johnson and postdoctoral researcher Dr Sarah Mele from the La Trobe Institute for Molecular Science (LIMS) and the School of Agriculture, Biomedicine and Environment said they aim to better understand the disorder to open avenues of research for new treatments.
“ECHS1 deficiency affects so few people, which makes it near impossible to devise and test treatments in the clinic. The ECHS1 enzyme has emerged as a critical player in several aspects of metabolism and this has made it difficult to pinpoint the precise causes of the disorder. Understanding these is critical for treatment development,” said Dr Johnson.
The project will see the research team use fruit flies, which share 75 per cent of disease-causing genes with humans, including the ECHS1 gene altered for the study.
The flies will be used to test for different drugs and synthetic diets and to find other genes that interact with the ECHS1 gene.
“Treatments that have been tried so far that would logically make sense for ECHS1 haven’t been working, and we don’t know why. We hope that this research will uncover possible new treatments as well as provide hope for those affected by ECHS1,” said Dr Mele.
ECHS1 deficiency affects less than one in 250,000 babies and children annually and is one of more than 1,400 rare Inherited Metabolic Disorders.
ECHS1 deficiency prevents the body from breaking down and using the amino acids Valine and essential fatty acids—both growth-promoting nutrients delivered to the body via food.
When the body is unable to break these nutrients down, it does not have enough energy to grow, and it also experiences a toxic build-up of Valine compounds. As a result, the structures in the body and brain begin to degenerate.
“The disorder affects all the body systems you can possibly think of that are associated with growing – feeding, movement, even mood. All these key early milestones unwind,” said Dr Mele.
Symptoms of ECHS1 deficiency often appear suddenly within the first few years of a child’s life.
For Ms Melling’s son Archie, after whom Archie’s Embrace is named, it was 13 months before symptoms of the disorder appeared.
“Archie had been getting all his milestones. He walked, he talked, he ate, he laughed – always laughing,” said Ms Melling.
“Eventually, we got to the point of needing to do genetic testing. After about a week they gave us a diagnosis of Leigh Syndrome, but it took six months to get the exact ECHS1 deficiency diagnosis,” said Ms Melling.
After connecting with other impacted families via social media, Ms Melling established Archie’s Embrace to raise funds for rare disease research.
The charity has already funded research overseas for ECHS1 deficiency. They will fully fund the upcoming project at La Trobe University, providing $138,545 to investigate possible treatments to alleviate symptoms.
“We’re very grateful to Archie’s Embrace for funding this much-needed research. It’s a fantastic start, and we hope that by shedding more light on ECHS1 deficiency, we can raise awareness both here and overseas so all possible options can be explored for these kids,” added Dr Johnson.
The research will be conducted next year, in collaboration with Professor Matthew Piper at Monash University.