First treatment recommended for rare blood disorder
Following new draft guidance from the National Institute for Health and Care Excellence (NICE), midostaurin (Rydapt, Novartis) has been recommended for the treatment of advanced systemic mastocytosis in adults.
Mastocytosis is a rare condition caused by an excess number of specific blood cells called mast cells, which play a key role in the immune system by triggering inflammation in the body. Advanced systemic mastocytosis is a severe form of the disease where mast cells gather in body tissues, such as the skin, internal organs and bones.
There are three diverse subtypes of the condition:
- Aggressive systemic mastocytosis
- Systemic mastocytosis with associated haematological neoplasms
- Mast cell leukaemia
- Symptoms are varied and often differ, including frequent and unexpected diarrhoea and vomiting to anaphylaxis.
There is no current standard treatment for advanced systemic mastocytosis. Instead, treatment is based on symptoms, and can include a variety of therapies.
New draft guidance from NICE means that around 170 patients with the condition will now be eligible for treatment with midostaurin, which will be the first targeted therapy for advanced systemic mastocytosis available on the NHS. The treatment is taken orally twice a day and works by blocking multiple enzymes involved in the condition.
Evidence from clinical trial suggest that midostaurin improves the overall survival of people with advanced systemic mastocytosis compared to several comparator treatments. Trials also showed a significant improvement in the quality of life for patients with the condition. However, evidence around its effectiveness is uncertain.
Therefore, midostaurin is considered a cost-effective use of NHS resources and is recommended for routine use on the NHS.
Meindert Boysen, deputy chief executive and director of the Centre for Health Technology Evaluation at NICE, said: ‘We are pleased to be able to recommend midostaurin as a treatment option for people with advanced systemic mastocytosis, despite the limitations in the clinical and comparative effectiveness evidence. The symptoms experienced by patients with this rare disease can be devastating and limiting. By recognising that patients with advanced systemic mastocytosis have a limited life expectancy without midostaurin, and by working closely with the company, we can support access to this innovative treatment’.
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NICE has issued final guidance, which now recommends sapropetrin as an option for treating phenylketonuria (PKU) in pregnant women until they give birth as well as for treating the condition in people until they turn 22.
Usually diagnosed in children, PKU is a rare, inherited, chronic and life-long metabolic condition. PKU is caused by the deficiency of an enzyme that breaks down phenylalanine, a compound that occurs naturally in protein-rich foods such as milk, eggs and meat. Phenylalanine in high concentrations is toxic to the central nervous system. The goal of treatment with sapropterin is to reduce blood phenylalanine levels and relax the protein-restricted diet as much as possible.
Following public consultation on NICE's previous draft guidance which recommended sapropterin for children up to 18 years old, the committee agreed that PKU is a particular concern if poorly controlled during pregnancy because it can cause severe congenital defects in unborn children. Currently, only pregnant women with PKU who can't control their condition through diet alone are able to access sapropterin on the NHS. This new recommendation could allow women to have sapropterin earlier in their pregnancy with potentially better outcomes for their unborn children. The NICE committee also acknowledged that sapropterin could prevent long-term irreversible brain damage in children, because childhood is the most critical period for brain development. Sapropterin is now also recommended for people aged from 18 until they turn 22. The committee felt people would benefit if treatment with sapropterin could be continued for as long as possible during final brain development and transition into adulthood. However, sapropterin is only cost effective in this group if they continue to take sapropterin at the dose they were having when they were under 18.