Posted: September 3, 2024
La Trobe University scientists have received nearly $140,000 from rare disease charity Archie’s Embrace to investigate an unresearched genetic disorder that causes premature neurodegeneration in babies.
This disorder, which causes a deficiency of the ECHS1 enzyme, enables the body to digest and use certain amino acids and fatty acids—important nutrients that provide the body with the energy it needs to grow.
Ross Melling, director of Archie’s Hugs, hopes the research will open up new ways to improve symptoms, reduce suffering and extend the lives of children with ECHS1 deficiency.
Acquiring science and research and strengthening knowledge about how to improve the quality of life for these children is very powerful. Many parents are told at the time of diagnosis that there is little hope, as there is currently no cure. “Research and data are limited, and that’s what medical teams need to change treatment on the patient’s face.” said Mrs. Melling.
Research leader Dr Travis Johnson and postdoctoral researcher Dr Sarah Mell, from the La Trobe Institute for Molecular Sciences (LIMS) and the School of Agriculture, Biomedicine and the Environment, said they aimed to gain a better understanding of the disorder rather than ways to Open the investigation. for new treatments
ECHS1 deficiency affects a small number of people, making it nearly impossible to devise and test a treatment in the clinic. The ECHS1 enzyme has emerged as an important player in several aspects of metabolism, making it difficult to pinpoint the causes of the disorder. Dr. Johnson said understanding these is critical to developing treatments.
In this project, the research team uses fruit flies, which share 75 percent of disease-causing genes with humans, including the ECHS1 gene, which was modified for the study.
The flies will be used to test different drugs and artificial diets and to find other genes that interact with the ECHS1 gene.
“Treatments that have been tried so far that make sense for ECHS1 have not worked, and we don’t know why. “We hope this research will uncover possible new treatments and also provide hope for those affected by ECHS1.” Dr. Mele said.
ECHS1 deficiency affects fewer than 1 in 250,000 infants and children annually and is one of more than 1,400 inherited metabolic disorders (IMDs).
ECHS1 deficiency, caused by genetic mutations passed down from the baby’s parents, prevents the body from breaking down and using the amino acid valine and essential fatty acids — both growth-promoting nutrients that come from food.
When the body cannot break down these nutrients, not only does it not have enough energy to grow, it also suffers. Toxic accumulation of valine compounds begins as a result of body and brain structures degenerate
The disorder affects every body system you can possibly think of that is related to growth—nutrition, movement, even mood. “All these key early milestones are unfolding,” Dr Mel said.
Symptoms of ECHS1 deficiency often appear suddenly in the first few years of a child’s life.
It took 13 months for Ms Melling’s son Archie, after whom Archie’s Hugs is named, to develop symptoms of the disorder.
Archie had achieved all his milestones. “He was walking, talking, eating, laughing — always laughing.”
It was a stomach attack that caused the disorder, which had been dormant until then. After having trouble breathing during the night, he collapsed and was rushed to the hospital.
After ruling out other causes, the medical team began investigating metabolic and genetic causes of his illness.
Eventually, we got to the point where we had to do genetic testing. “After about a week, they gave us a diagnosis of Leigh syndrome, but it took six months to make an accurate diagnosis of ECHS1 deficiency.” said Mrs. Melling.
Archie is now eight years old. He’s still a happy, bubbly baby, but he’s quadriplegic, non-verbal, suffers from severe muscle spasms and has to be fed a specialized diet through a tube.
She also takes several medications and vitamins to ease the symptoms of ECHS1 deficiency, but a lack of research means there is no cure for the disorder and limited resources to help families learn and manage it.
After connecting with other affected families through social media, Ms Melling set up Archie’s Embrace to raise funds for rare disease research.
The charity has already funded overseas research into ECHS1 deficiency. They are fully funding the upcoming project at La Trobe University, providing $138,545 to investigate possible treatments to reduce symptoms.
We are very grateful to Archie’s Embrace for funding this much needed research. “This is a great start, and we hope that by shedding more light on ECHS1 deficiency, we can raise awareness both here and abroad so that all possible options are explored for these children.” Dr. Johnson said.
This research will be carried out next year in collaboration with Professor Matthew Piper at Monash University.
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