New medicine approved for rare inherited disorders that starve cells of energy

A new medicine for a group of rare inherited disorders that stop the body using certain fats for energy has been approved for use in the UK, for both adults and children.

The Medicines and Healthcare products Regulatory Agency (MHRA) has approved triheptanoin, sold as Dojolvi, as an oral liquid to treat long-chain fatty acid oxidation disorders, known as LC-FAOD.

A problem with the body's energy supply

LC-FAOD is a group of rare inherited conditions that can affect people of any age. People with these disorders cannot use long-chain fatty acids as a source of energy, so their bodies may struggle to produce enough of it.

That puts them at risk of serious medical crises, which can lead to frequent stays in hospital. Without enough energy, cells can break down, causing muscle breakdown, damage to the heart muscle and low blood sugar.

How the medicine works

Triheptanoin is a liquid taken by mouth every day, as part of a carefully controlled diet. It helps to prevent the energy crises in cells that cause these problems. It is only available on prescription, and patients should take it exactly as their healthcare professional directs.

The most common side effects, which may affect more than one in ten people, include stomach pain, diarrhoea and vomiting.

Julian Beach, MHRA Executive Director, Operations, said: "Enabling patient access to high quality, safe and effective medical products is important to us.

"Patients living with rare diseases often face significant barriers in accessing effective treatments and we're assured that the appropriate regulatory standards for the approval of this medicine have been met.

"As with all products, we will keep the safety of triheptanoin under close review."

A conditional approval

The medicine has been given a conditional marketing authorisation, because further evidence on its effectiveness and safety is still needed from a study in children that is under way. A full authorisation will depend on that evidence. The approval was granted on 30 October to Ultragenyx Netherlands.

Hope for rare diseases

Rare diseases are individually uncommon, but together they affect millions of people in the UK, and many have no approved treatment at all. Birmingham's hospitals include specialist services for people with inherited metabolic conditions, and every new medicine gives doctors another option for patients who have had very few.

Anyone who thinks they may be having a side effect from a medicine is encouraged to talk to their doctor, pharmacist or nurse and to report it through the MHRA's Yellow Card scheme.