Feb 10, 2020: Appraisal reports have been published for THE two medicines to treat exceptionally rare conditions, voretigene neparvovec (Luxturna) and burosumab (Crysvita). These are the first drugs to be tested along the ultra-orphan pathway a new approach introduced earlier this year.
Voretigene neparvovec (Luxturna) is a onetime treatment for an extremely rare form of hereditary retinal dystrophy (an inherited eye condition) caused by a mutation (genetic modification) in the gene RPE65.
The condition causes severe loss of sight from an early age with most patients leading to complete blindness, and no cure is currently available. Voretigene neparvovec has been shown to improve vision that would have a substantial impact on the quality of life.
Burosumab (Crysvita) is a treatment for X linked pituitary hypophosphateemia,an
extremely rare,debilitating, genetic condition characterized by low blood phosphate levels. The disease results in debilitating deformities of the skeleton that occur in infancy and continues in adulthood and have a profound effect on day-to-day functioning and quality of life. Burosumab was shown to correct childhood bone defects.
This is expected to result in lifelong benefits but it is not currently known how this treatment will impact the disease’s development into adulthood.
Cemiplimab (Libtayo) was accepted for the interim use subject to ongoing evaluation and future reassessment by the SMC, used for the treatment of a type of skin cancer called advanced cutaneous squamous cell carcinoma (CSCC) in the patients who are not candidates for curative surgery or curative radiation. This treatment was considered through the Patient and Clinical Engagement (PACE) phase of SMC, which is used for drugs to treat end-of-life disorders and very unusual ones.
Also accepted through PACE was teduglutide (Revestive) for the treatment of adult patients with short bowel syndrome, a rare condition in which nutrients and fluids are not accurately absorbed by the gut. Patients are usually given nutrients as an infusion directly into 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 necessary, enabling patients and their carers in order to experience an improved quality of life.
Encorafenib (Braftovi) was established through PACE for the treatment of metastatic melanoma (advanced skin cancer). Encorafenib is used in combination with the other medicine, binimetinib (Mektovi), and is only for the patients whose cancer cells have a specific mutation (change) in the ‘BRAF’ gene. In the PACE meeting, participants emphasised that this is a severe, violent form of cancer with a poor prognosis. Encorafenib provides another efficient treatment option with a different side effect profile that may be preferable for some patients.
https://www.scottishmedicines.org.uk/about-us/latest-updates/february-2020-decisions-news-release/
