News stories

A patient, who is one of only two people in the UK to have an extremely rare inherited disease, visited his care team yesterday at the Centre for Rare Diseases (CfRD) on Rare Diseases Day (28 February) to say thank you.  

CfRD is hosted at Queen Elizabeth Hospital Birmingham and has cared for 12,000 patients since it opened in 2015.

It was created to care for patients with rare, often genetic, disorders that affect multiple parts of the body. It hosts clinical services for many rare diseases, in 90 specialty clinics. 

Many conditions they treat are ultra-rare with a prevalence of less than 1 in 50,000 of the population. The centre is supported by 15 clinical teams, often working together to provide a one stop care model for patients with rare diseases.

One of these patients is Adil Khaliq, aged 24, and from Stoke-on-Trent. Adil is only one of two patients in the UK and fewer than 100 in the world with Tangier Disease. Tangier Disease is a very rare inherited disease, which disrupts how our bodies normally use cholesterol. This leads to fat deposition in the arteries, tonsils, heart and nerves and this can cause heart disease. It can cause the nervous system to stop working properly, leading to loss of strength and patients are often left unable to walk. 

Adil was very young when he was diagnosed with Tangier Disease, after doctors found fatty deposits on his tonsils. As he has grown older, he has experienced weakness in his hands and legs and has frequent falls. He also has to eat a low-fat diet, as high cholesterol can cause fat deposits to build up in his body and cause damage to his organs. Since he has been taking Miglustat, his dexterity has improved and he no longer falls over.

Until recently, the only way to treat Tangier disease has been a low-fat diet, but this is not a cure, and patients often still develop disability. Adil has been on a clinical research trial for two years, trialling a drug called Miglustat, which has slowed the progress of the disease. 

Professor Tarekegn Hiwot, Consultant in Inherited Metabolic Disorders, explained: 

“Adil was enrolled onto a National Institute for Health and Care Research (NIHR) funded clinical trial to repurpose an existing drug. Miglustat is currently used to treat Niemann-Pick type C, another rare disease that causes cholesterol and other fats to accumulate in the organs, but we wanted to see if it would be effective for Tangier Disease. The NIHR funded study was designed for just one patient, Adil – which is the first of its kind. Adil was treated for six months on Miglustat and then six months off for two years, effectively being his own ‘control’ in the research trial.” 

Adil says: 

“It’s made a huge difference in my day-to-day life. Before I started to take Miglustat, I struggled to pick up heavy objects, eat with a knife and fork and once I came home from college and couldn’t turn my key in the door. My dad had to come home and let me in. The weakness would often move around, so just as one hand was regaining some dexterity, one of my legs would get weak.

“My quality of life is much improved now and I am so grateful for all the team at the Centre for Rare Diseases who have supported me.”