Vici syndrome: searching for drug treatments for this rare and severe inherited condition

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, most children with Vici syndrome do not live beyond their fifth birthday. Professor Michael Duchen and Dr Kritarth Singh of University College London have recently discovered that cells from patients with this condition have problems with their mitochondria – the cell’s energy-generating powerhouses. They are now carrying out laboratory research to identify existing medicines that may help to restore mitochondrial function in patient nerve cells. This work could ultimately lead to new effective treatments to help reduce the impact of this devastating condition on children and their families.

How are children’s lives affected now?

Children with Vici syndrome experience a wide variety of symptoms affecting almost any part of the body. They will often have heart problems, delayed development, progressive deterioration of the nervous system and seizures and repeated infections due to problems with their immune system.

“Vici syndrome will profoundly affect a child’s quality of life,” says Professor Duchen. “Sadly, there are currently no effective treatments for children with this extremely debilitating condition and it will severely shorten their lives.”

Vici syndrome is caused by faults in the EPG5 gene, which carries the instructions to make a protein that plays a key role in a process that enables cells to dispose of aging or damaged materials. The team has recently discovered that the mitochondria in patient skin cells do not function properly, revealing potential new strategies for treating the disease.

How could this research help?

“Our ultimate aim is to identify medicines that are already used to treat other diseases that could be repurposed for patients with Vici syndrome,” says Professor Duchen.

The researchers will now investigate whether poorly functioning mitochondria also contribute to the deterioration of the nervous system and seizures that affect children with Vici syndrome.

“We will carry out a series of laboratory experiments to study the effects of the faulty EPG5 gene on patient-derived nerve cells, with a focus on mitochondrial function,” says Professor Duchen.

The team will test several existing drugs to find out whether they can help to restore mitochondrial function in patient-derived nerve cells in the laboratory.

“We hope this will one day lead to treatments that might benefit not only children with Vici syndrome but that might also benefit people with several other conditions in which similar processes are involved and for which no effective treatments are yet available,” says Professor Duchen.

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP.