World-leading trial for rare disease patient

11 February 2019

A patient at University Hospitals Birmingham NHS Foundation Trust (UHB) is one of just four people in the UK taking part in a worldwide clinical trial for Pompe disease, a rare, genetically inherited condition affecting less than 1,000 people in the UK.

Charles Power, 59, lives in Halesowen and was referred to a chest specialist at Dudley Hospital after issues with breathing.

After an initial referral to a neurologist at Dudley Guest Hospital, Charles was then referred to Inherited Metabolic Disorders at the Queen Elizabeth Hospital Birmingham (QEHB), part of UHB.

Muscle and blood tests showed Charles has a late-onset form of Pompe disease, a genetically inherited condition that causes glycogen (a type of sugar) to build up in the body, leading to muscle damage and general fatigue. The diagnosis was confirmed by a genetic blood test.

For most people, glycogen is broken down naturally by enzymes within the body, which for people with Pompe disease either work at a reduced level or not at all.

“When I was diagnosed in March 2018, it was a big shock, but I’d also known something was wrong for a while,” said Charles.

“As a builder, I’m used to physical work, but I was finding in recent years that I was getting more and more tired after a job.”

Once diagnosed, Charles was immediately offered the chance to take part in a trial that is comparing the standard enzyme replacement treatment with an investigational replacement treatment.

“We are working with a pharmaceutical company on a clinical trial to see which version of the enzyme treatment works best for patients,” said Dr Tarek Hiwot, Consultant in Inherited Metabolic Disorders at UHB.

“Charles seemed an ideal candidate to take part in the trial, as he ticked all of the eligibility criteria.

Taking part in the clinical trial involves fortnightly infusion sessions in the NIHR Clinical Research Facility, based in the Heritage Building on the QEHB site.

“The difference in how I feel compared to last year is incredible,” added Charles.

“It’s fantastic to be able to play with my grandchildren and walk around normally.”

People with Pompe disease are born with the genetic ‘glitch’ that causes the condition, though symptoms can emerge at any point from childhood to old age, with late-onset Pompe often a milder form of the disease compared to those diagnosed at a young age.

Pompe disease is a recessive condition, meaning even if both parents are carriers of the condition, there is still only a 25% chance of their children having the disease.

The trial is expected to continue until February 2022.

More information about the range of rare disease clinics available can be found on the Centre for Rare Diseases section of the UHB website.

If you would like to know more about rare diseases, please visit QEHB on Thursday 28 February 2019 to celebrate Rare Disease Day.