Largest study into rare disease published with breakthrough results

Researchers have shed light on a potential new drug therapy for the rare disease, Familial Chylomicronemia Syndrome (FCS).

Dr Handrean Soran, Consultant Physician and Endocrinologist at Manchester Royal Infirmary (MRI), and Honorary Senior Lecturer at The University of Manchester, was part of an international multi-centre research group which led the APPROACH trial.

Results of APPROACH have been published in the New England Journal of Medicine (NEJM), which indicate that treatment with the drug volanesorsen – when used alongside a well-planned, very low fat diet – reduces fats (triglycerides) by 77 per cent.

The study took place at 40 centres across 12 countries. In Greater Manchester, the trial was run at the Cardiovascular Clinical Trials Unit (CVTU) and the NIHR Manchester Clinical Research Facility both within the MRI, which is part of Manchester University NHS Foundation Trust (MFT).

Dr Soran, who led the APPROACH trial at the CVTU, said:

APPROACH is the largest interventional trial ever conducted in patients with FCS and our findings are a huge step forward for people living with this rare disease, where previously no treatment options were available.

“I am proud of our team, who have worked tirelessly to recruit and care for patients on this study.

“We have been working in this field of research for a number of years and have established a national register for FCS through the CVTU.”

FCS is a rare genetic condition affecting around one to two in a million people worldwide. People living with FCS lack an enzyme called lipoprotein lipase – or one its co-factors – which prevents the body from breaking down fats, known as triglycerides. These fats will build up in the bloodstream and, over time, lead to life-threatening conditions, such as acute pancreatitis, vascular disease and diabetes – as well as causing extreme pain.

Current management of FCS includes limiting daily fat intake to less than 20 to 25 grams per day, with very limited alternative options.

The National Institute for Health and Care Excellence (NICE), which provides national guidance and advice to improve health and social care, will consider whether volanesorsen will be made available for people in the UK in 2020.

The FCS patients received treatment as part of an ‘open label study’, a type of clinical trial in which both the health providers and the patients are aware of the drug or treatment being given, at MFT’s CVTU. The participants continue to receive treatment based on the Early Access Medicines Scheme. 

The trial was funded by Ionis Pharmaceuticals and sponsored by the NIHR Clinical Research Network Eastern.

Find out more about research taking place at Manchester Royal Infirmary