March 2021 decisions news release

Medicines which can be used to treat a rare genetic disease in children and some cancer tumours with a genetic abnormality have today (Monday 8 March) been accepted by the Scottish Medicines Consortium (SMC) for use by NHSScotland.

Onasemnogene abeparvovec (Zolgensma) is a gene therapy for the treatment of spinal muscular atrophy (SMA). It is the first gene therapy SMC has accepted for use by NHSScotland. SMA is a very rare muscle wasting disease caused by a mutation in a gene that is critical to the function of the nerves that control muscles. It is one of the main genetic causes of death in infants. The most severe form of the condition, SMA Type 1, is usually diagnosed in the first six months of an infant’s life. Patients have profound muscle weakness, leading to difficulty with movement and swallowing and often need assistance to breathe. If not treated it usually leads to death before two years of age. Onasemnogene abeparvovec is given as a single intravenous infusion. It has the potential to significantly improve the length of life and may enable patients to develop motor skills which could lead to less disability over time. Onasemnogene abeparvovec may also be used in some affected patients before they develop symptoms of SMA and earlier treatment may help maximise its benefits. The medicine was considered through SMC’s Patient and Clinician Engagement (PACE) process, which is used for medicines for end of life and rare conditions. In the PACE meeting, participants highlighted this condition is devastating for families as patients need round the clock care. As well as having the potential to significantly improve the patient’s quality of life, this ‘one off’ treatment would be much less disruptive to family life compared to the ongoing hospital visits required for the other available treatment.

Entrecitinib (Rozlytrek) was accepted for the treatment of solid tumours (cancer growths) that have a rare genetic abnormality called NTRK gene fusion. It is a new type of medicine, sometimes called a tumour agnostic. These tumour agnostic medicines can be effective in tumours with specific genetic features, regardless of where the tumour is situated. In the PACE meeting, patient group representatives and clinicians spoke of how these kinds of tumours can often affect teenagers and young adults and can have significant impact on patients, family and friends, particularly as there are very few current treatment options. Entrectinib is taken orally, avoiding the need for frequent hospital trips for other potential treatments and therefore making it more convenient for both the patients and their families / carers. Patients treated with entrectinib may have better symptom control, allowing them to return to work or education. In some specific circumstances, tumour shrinkage after entrectinib may enable further treatment options, for example surgery.

SMC chairman Mark MacGregor said:

“The committee is pleased to be able to accept these medicines for use by NHSScotland.”

“Committee members heard about the devastating impact SMA has on the lives of children with this condition and their families through our PACE process. This is the first gene therapy the committee has accepted for use by NHSScotland using our process for medicines for rare conditions, which allows us greater flexibility in relation to cost-effectiveness. This medicine has the potential to be life changing for patients and their families. However, it is extremely expensive for the single dose required, even with the Patient Access Scheme discount offered by the company.”

“These are incredibly difficult decisions. Allocating resource to new innovations diverts that resource from other important needs. We expect the pharmaceutical industry will work on improving its efficiency to deliver such high cost innovations at lower cost, which is essential for the sustainability of healthcare systems around the world.”
“For patients with solid tumours with NTRK fusion who have limited treatment options, our decision on entrecitinib may allow them to continue with regular activities and possibly enable some to access further treatment options.”

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