Searching for new treatments for Vici syndrome

treatments for vici syndrome

This project is jointly funded by Sparks and charity partner Great Ormond Street Hospital Children’s Charity through the National Research Funding Call.

Vici syndrome is a rare, devastating, and poorly understood genetic condition that affects the body’s ability to recycle material inside cells. There is currently no cure and, sadly, most children with Vici syndrome lose their lives in early childhood. While there are only 100 children worldwide officially diagnosed with Vici syndrome, experts believe many more are affected.

A healthy cell will constantly recycle the material inside it – throwing out dysfunctional parts and repairing or replacing them with new ones. In children with Vici syndrome, this turnover process doesn’t work, leaving their cells crowded with waste and components that don’t work properly. When cell waste accumulates, it can cause serious problems such as poor brain development, cataracts and hearing loss, as well as life-threatening issues like heart failure and an inability to fight off infections.

What

Until we understand exactly how Vici syndrome affects the body, we cannot treat it. Professor Michael Duchen and his team at University College London, working with professor Heinz Jungbluth at King’s College London, want to tackle this problem by studying cells in the lab that were donated by children with Vici syndrome. First, they aim to work out how key damaged components inside these cells behave. Then, crucially, they will test existing drugs on the cells to see how effectively they repair the damaged components and restore the cell’s health.

Impact

Children with Vici syndrome rarely reach their teenage years. A new, effective treatment could change that, offering hope to children and their families of a longer life with fewer devastating health problems.

This project should vastly improve scientific understanding of Vici syndrome and could even identify existing medicines that would benefit children with the condition. If successful, this could reduce the effect of debilitating symptoms such as repeated infections, heart disease, hearing loss and vision problems – improving the child’s quality of life.

There are many conditions thought to be caused by poor ‘rubbish collection’ in cells. If Professor Duchen and his team can identify an approach that works for Vici syndrome, it may prove beneficial to children with other, related conditions.

Searching for new treatments for vici syndrome – a devastating condition that affects multiple body systems

Researcher: Prof Michael Duchen
Location: UCL
Grant: £194,675.00

Help fund more ground-breaking medical research for seriously ill children and their families.