Pompe disease is a chronic, rare, genetic, progressive metabolic disease which results in severe disability and reduces life expectancy. It is caused by mutations in the gene that encodes the acid alpha glucosidase (GAA), which is needed to break down glycogen into glucose. In Pompe disease, there is reduced or no GAA activity, so lysosomal glycogen accumulates in muscle cells and causes irreversible muscle damage.

The standard treatment for late-onset Pompe disease is enzyme replacement therapy (ERT). To date, treatment has been provided using alglucosidase alfa (ALGLU) or avalglucosidase alfa (AVAL). These two treatments are now joined by CIPA plus miglustat.

NICE heard evidence from clinical trials that although the long-term effects of CIPA plus miglustat are uncertain, in the short term it seems to improve walking and breathing compared with ALGLU. CIPA plus miglustat has only been compared indirectly with AVAL. It appears to be as effective, but this is uncertain.

There has been some uncertainties around the cost effectiveness of CIPA plus miglustat but NICE has concluded that the overall health benefit for those with Pompe disease will be increased with it being available as a treatment option.

CIPA plus miglustat will become a treatment option for those who have and haven’t had ERT treatment previously. Clinicians supporting adults with late-onset Pompe disease will consider a number of factors when making a decision about the most appropriate treatment for an individual.

We worked in partnership with the Association of Glycogen Storage Diseases throughout the NICE appraisal process to ensure the experiences of adults living with late-onset Pompe disease were fully understood and taken into account.

As CIPA plus miglustat has been available through the early access to medicines scheme (EAMS), NHS England and integrated care boards (ICBs) have agreed to provide funding to implement this guidance 30 days after publication. When a NICE highly specialised technologies guidance recommends the use of a drug or treatment, or other technology,  NHS Wales must usually provide funding and resources for it within two months of the publication of the final draft guidance. Northern Ireland usually follow NICE guidance; there is a separate treatment appraisal process in Scotland.

Full information on the recommendation is available on the NICE website here

Newborn babies in the UK are currently screened for nine – soon to be ten – rare, but serious, conditions. Newborn blood spot screening (also known as the heel-prick test) is vital for early diagnosis of these conditions. However, the UK screens for fewer rare conditions in newborn babies than other countries in Europe and the US.  

With advances in more recent years in accessing treatments and other health and care support for some rare conditions, the importance of early diagnosis via newborn screening has become increasingly critical. Despite this, some of these conditions are still not tested for as part of newborn screening in the UK – including spinal muscular atrophy (SMA), for which there are available treatments that are shown to have more benefit if accessed prior to symptoms starting.  

For a condition to be included for newborn screening, it must first be assessed by the UK National Screening Committee (the UK NSC), and there must be evidence that it meets a certain UK NSC criteria. Many conditions that could be added are so rare that there is less information available compared to more common conditions. This means the assessment process can take a long time, and that there still may not be sufficient evidence to meet the assessment criteria.  

The newly published report is based on findings from an inquiry into newborn screening for rare conditions by the All-Party Parliamentary Group for Muscular Dystrophy, chaired by Mary Glindon MP, with support from Muscular Dystrophy UK and the APPG for Rare, Genetic and Undiagnosed Conditions, chaired by Liz Twist MP.

The inquiry heard powerful testimonies about the importance of newborn screening from the parents of children living with rare conditions, patient organisations, clinicians, and other stakeholders. Inquiry participants made recommendations for changes to the current UK NSC approach to assessing rare conditions so that they can be included in the UK newborn screening programme.

Whilst the inquiry looked at newborn screening for rare conditions overall, there was a specific focus on spinal muscular atrophy (SMA), given the announcement in November 2022 by the UK NSC that it has started reviewing whether SMA should be a condition for which newborn babies are tested.  

MDUK works in partnership with SMA UK to manage the UK SMA Newborn Screening Alliance. We hope that by highlighting these recommendations to UK NSC and other key decision makers, we can find a way to move past the situation whereby we have a newborn screening assessment process that is not meeting the needs of people with rare conditions, and the UK can come move into line with other comparable countries when it comes to newborn screening. 

UPDATE: On 24 May 2023, Roche published an update in which they stated that the FDA's final decision on accelerated approval of Sarepta Therapeutics' SRP-9001 gene therapy for Duchenne muscular dystrophy has been postponed from 29 May 2023 to 22 June 2023. See Roche's community letter for details.

The FDA advisory committee met on 12 May to discuss potentially accelerating approval of SRP-9001 (also known as delandistrogene moxeparvovec) gene therapy for the treatment of boys, who can still walk, with Duchenne muscular dystrophy (DMD). In a non-binding vote, the committee voted eight to six in favour of the accelerated approval of the gene therapy. A final decision will be made by the FDA by the end of the month, with consideration of the advisory committee vote.

While this doesn’t affect those with DMD in the UK or Europe, where the FDA does not have jurisdiction, the FDA’s decision might influence the next steps for the potential global approval of SRP-9001 in the future. Muscular Dystrophy UK has reached out to Roche for more information, and they have said that they will share as much detail as they can following the FDA’s final decision at the end of the month. We will share this information with our community as soon as we can.

Duchenne muscular dystrophy is a rare neuromuscular condition that mainly affects boys and men. People with DMD lack a protein called dystrophin, which is required to maintain the strength of muscles. SRP-9001 is a gene therapy for DMD developed by Sarepta Therapeutics. It is based on the delivery of micro-dystrophin (a smaller, but functional, version of dystrophin protein) into muscle cells via adeno-associated virus (AAV) vector. In 2019, Sarepta partnered with Roche to increase the global reach and facilitate accelerated access to SRP-9001 gene therapy to people with DMD living outside of the US.

Throughout Sarepta’s clinical trials for SRP-9001, the NorthStar Ambulatory Assessment (NSAA) has been used as an important and meaningful tool to measure the effect of the gene therapy. The NSAA data collected from the trials provided vital evidence to the assessment committee. This assessment tool was developed by the NorthStar network team and is now being used in over 60 clinical trials across the world. Muscular Dystrophy UK has been funding the work of the NorthStar network for almost two decades and has supported the development of the NSAA.