Searching for a new treatment for Vici syndrome
Vici syndrome is a rare and severe genetic condition caused by faults in the EPG5 gene that leads to a wide variety of symptoms in children, including heart problems, delayed development, progressive deterioration of the nervous system, seizures, and repeated infections due to problems with their immune system.
Sadly, there are currently no effective treatments for this debilitating condition. It severely shortens children’s lives, with many not living beyond their fifth birthday. But with Action funding, researchers at University College London, hope to change this.
The researcher team, led by Professor Michael Duchen and Dr Kritarth Singh, have discovered a potential new strategy for treating Vici syndrome, after finding that patients with the condition have problems with their mitochondria, which supply the vital energy our cells need to function.
This knowledge could help identify effective new treatments that could transform the lives of children with Vici syndrome and their families.
The team will now build on their discovery and investigate whether poorly functioning mitochondria also contribute to the devastating deterioration of the nervous system and seizures that are seen in children with Vici syndrome.
The team will also test several existing medicines used for other conditions, to find out whether they can help repair or improve mitochondrial function.
The researchers hope their work will one day lead to an urgently needed new treatment to reduce the impact of this devastating condition on children and their families.
TOGETHER WE CAN HELP FIGHT THIS DISEASE
100% of your donation will support the researchers at University College London as they investigate a new way to treat Vici syndrome.