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New treatment for Pompe Disease recommended by NICE

21 July 2022

Avalglucosidase alfa has been recommended as an option for treating Pompe disease in babies, children and adults.

We’re delighted to announce that a new treatment for Pompe disease has been recommended for use by NICE. MDUK played an important role in NICE’s appraisal process, as part of our commitment to increasing access to treatments for all muscle-wasting conditions.

Avalglucosidase alfa has been recommended as an option for treating Pompe disease in babies, children, young people and adults.

Pompe disease is caused by an enzyme deficiency that leads to a build-up of glyocogen in skeletal and heart muscles which causes muscle weakness. The treatment has been recommended as a long-term enzyme replacement therapy that aims to help reduce this glycogen build-up.

NHS England and commissioning groups have agreed to provide funding to implement this recommendation 30 days after publication on 21 July (or when the product becomes commercially available). This is a shorter timescale than usual because it has been available already through the Early Access to Medicines Scheme (EAMS).

Northern Ireland usually mirrors NICE recommendations, and Wales will provide funding within two months of publication of the final appraisal document. Scotland, however, has a separate system so this guidance doesn’t currently apply there.

Baroness Thomas of Winchester, a Trustee of MDUK, was a Patient Expert during the NICE appraisal of avalglucosidase alfa. She gave evidence in the committee meeting that led to NICE’s recommendation that the treatment be made available on the NHS.

“I was diagnosed with Pompe disease in early 2019, having lived with an incorrect diagnosis of a different muscle-wasting condition for over thirty years before that. Pompe disease has a huge impact on my life; I now use an electric wheelchair, and a ventilator at night and for a few hours during the day. Speech is difficult and I eat very little, relying on an overnight food supplement through a percutaneous endoscopic (PEG), a procedure in which a flexible feeding tube is placed through the abdominal wall and into the stomach. Living with Pompe disease can be very stressful and certainly has an impact on my general wellbeing,” said Baroness Thomas of Winchester.

“I am delighted that some people with Pompe disease will now have access to this new treatment and the opportunity to have a different experience from my own. As a Trustee of Muscular Dystrophy UK, I am extremely proud of the organisation’s role in both supporting people living with muscle-wasting conditions and advocating for them to have access to the growing number of treatments that are becoming available,” she added.

Rob Burley, Director of Care, Communications and Support said: “The recommendation of avalglucosidase alfa to treat Pompe disease is a remarkable step forward for people of all ages who live with the condition. We’re proud to have been part of the appraisal process and to have helped bring this treatment to people in the UK.”

This announcement is part of our on-going efforts to secure access to the support and treatment people need to live as independently as possible. We look forward to continuing to engage with NICE to seek recommendations and approvals for more treatments, until no one is limited by muscle-wasting conditions.

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