The Scottish Medicines Consortium (SMC) has published its latest decisions on new medicines for NHS Scotland.
Assessment reports have been published for two medicines to treat extremely rare conditions, voretigene neparvovec (Luxturna) and burosumab (Crysvita). These are the first medicines to be assessed within the ultra-orphan pathway – a new approach introduced earlier this year.
Voretigene neparvovec (Luxturna) is a one-time therapy for an extremely rare type of inherited retinal dystrophy (an inherited eye condition) that is caused by a mutation in the RPE65 gene. This condition causes profound sight loss from an early age with the majority of patients progressing to total blindness, and currently there is no treatment. Voretigene neparvovec has been shown to improve vision which would have a significant impact on quality of life. Current data show that benefit is maintained to four years after treatment, however at this stage it is not known how long the treatment effect will be sustained.
Burosumab (Crysvita) is a treatment for X-linked hypophosphataemia which is an extremely rare, debilitating, hereditary disorder characterised by low levels of phosphate in the blood. The condition results in painful skeletal deformities which develop in childhood and persist into adulthood and have a profound effect on day-to-day functioning and quality of life. Burosumab has been shown to correct bone defects in children. This is expected to result in lifelong benefits, however currently it is not known how this medicine will affect progression of the disease into adulthood.
For these ultra-orphan medicines, companies are now required to provide plans describing how further data on the effects of the medicines, including those on the patient and carer lived experience, will be collected. Voretigene neparvovec and burosumab will then be available on the NHS in Scotland for a period of three years while this information is gathered. After this, SMC will review the evidence and make a decision on routine availability in NHS Scotland. Further information on the new ultra-orphan approach is available within Scottish Government guidance.
Cemiplimab (Libtayo) was accepted for interim use subject to ongoing evaluation and future reassessment by SMC. Cemiplimab can be used to treat a type of skin cancer called advanced cutaneous squamous cell carcinoma (CSCC) in patients who are not candidates for curative surgery or curative radiation. The medicine was considered through SMC’s Patient and Clinician Engagement (PACE) process, which is used for medicines to treat end of life and very rare conditions. PACE participants highlighted that advanced CSCC has a significant impact on the quality of life of patients and their carers/family and that patients have an estimated survival of less than a year. Advanced CSCC may cause painful, unsightly tumours affecting the head and neck which may lead to difficulties with eating or in social situations. The committee accepted cemiplimab on an interim basis to allow the submitting company to gather more mature data on its effectiveness prior to a reassessment by SMC. Further information on interim acceptance can be found on the SMC website.
Also accepted through PACE was teduglutide (Revestive) for the treatment of adults with short bowel syndrome, a rare condition in which nutrients and fluids are not properly absorbed by the gut. Through PACE, patient groups and clinicians spoke of the huge impact this condition can have on both patients and carers. Patients are usually given nutrients as an infusion directly into their veins (a process known as parenteral nutrition). Parenteral nutrition is administered through a tube into a vein over 10 to 14 hours at a time and for up to seven days per week. Teduglutide can reduce the level of parenteral nutrition that is required, enabling patients and their carers to experience an improved quality of life.
Encorafenib (Braftovi) was accepted through PACE for the treatment of metastatic melanoma (advanced skin cancer). Encorafenib is used in combination with binimetinib (Mektovi), and is only for patients whose cancer cells have a specific mutation in the ‘BRAF’ gene. In the PACE meeting, participants emphasised that this is a severe, aggressive form of cancer with a poor prognosis. Advanced melanoma affects a disproportionate amount of younger patients, who often have significant work and family commitments. Encorafenib provides another effective treatment option with a different side effect profile that may be preferable for some patients.
The committee was unable to accept sodium zirconium cyclosilicate (Lokelma) for the treatment of hyperkalaemia (high levels of potassium in the blood). Hyperkalaemia can particularly affect patients with chronic kidney disease, reducing quality of life. The committee was unable to accept sodium zirconium cyclosilicate as the company’s evidence about the economic benefits of the medicine was not strong enough.
SMC Chairman Dr Alan MacDonald said: “I am pleased we were able to make these medicines available for use by NHS Scotland. Voretigene neparvovec and burosumab will now move to the next stage of the ultra-orphan pathway. This new approach will allow patients with these extremely rare conditions to benefit from access to treatment while companies gather more information on clinical effectiveness. Scottish Government will announce when these medicines are available for prescribing in NHS Scotland.
“For those with advanced cutaneous squamous cell carcinoma (CSCC) who are not eligible for curative surgery or curative radiation, our decision to accept cemiplimab on an interim basis means they will be able to be treated while more mature data are gathered on the impact of this medicine. Through our PACE process, we heard how short bowel syndrome has a significant impact on the lives of both patients and carers. We hope our decision on teduglutide will be of benefit to them.
“PACE participants for encorafenib told us patients with advanced melanoma face a poor prognosis, so our decision on this medicines will increase patient choice, which we know will be welcomed.
“We were unable to accept sodium zirconium cyclosilicate for hyperkalaemia as the company’s evidence around the medicine’s benefits was not strong enough.”