With support from Action, Researchers have made important findings to better understand this devastating rare disease, opening up promising new pathways towards future treatments.
Vici syndrome is a very rare and severe genetic condition that affects many different parts of the body. There is currently no cure and sadly the condition is life-limiting.
With support from Action, researchers at University College London have made important discoveries about how Vici syndrome affects cells – and how this contributes to its many serious symptoms.
Their work has shown that cells from patients have faulty mitochondria, the cell’s energy-producing structures, and problems with mitophagy, the process that removes damaged cell components. These cellular defects may contribute to muscle weakness, fatigue, neurodegeneration, inflammation, and problems affecting the heart and other organs.
Crucially, the researchers have identified multiple biological pathways that could be targeted with drugs. Early laboratory studies have found that drugs aimed at these pathways were able to restore cell function. This reveals exciting new possibilities for treatment, opening the door to future clinical trials.
Our findings have been very exciting. This work could ultimately lead to new treatments to help reduce the impact of Vici syndrome, and other related devastating diseases, on children and their families”
Helping children like Emmy in the future
Emmy, pictured below, was diagnosed with Vici syndrome at 18 months old. She is blind, tube-fed and unable to walk or talk, but her personality shines through, says mum Ellie.
From a very young age, Emmy’s family knew she faced serious health challenges. But they were ‘completely blind-sided’ by her diagnosis. “We really didn’t think there could be anything so catastrophically wrong,” says Ellie.
“We are grateful for the research teams investigating Vici syndrome and other rare and debilitating conditions. This research could be incredibly significant.”
