Perhaps you’d like to be unusual. Would this be interesting, spark conversations? It is perhaps different when we are talking about a rare disease. In Europe, a disease is defined as rare when it affects fewer than one in 2,000 people. Most rare diseases have few treatment options. They can cause serious symptoms that impact on quality of life and are often life-limiting. As health professionals, we don’t come across patients with these conditions often, so they can take longer to diagnose and we may be unfamiliar with how best to manage them.
Medicines to treat rare diseases are called ‘orphan’ or ‘ultra-orphan’ drugs. The term is used because previously there was little interest in developing medicines for these conditions due to the cost of bringing them to market.
Over 80 per cent of rare diseases are genetic. Advances in genetics have led to a new era of personalised medicine – innovative new medicines that target the underlying cause of the disease in an individual. Unfortunately, these medicines can cost hundreds of thousands of pounds to treat a single patient annually. There are also often high levels of uncertainty about their long-term benefits. These medicines can be labelled as not cost effective, resulting in them not being recommended for routine use in NHS Scotland by the Scottish Medicines Consortium (SMC).
We have now implemented a new approach, intended to bring promising new medicines for extremely rare conditions more quickly to patients in Scotland, with an emphasis on finding out how well they work in the Scottish population. Known as the ‘ultra-orphan pathway’, these medicines will be available for three years while data is collected on their effectiveness. The SMC will undertake an initial assessment of the medicine, highlighting the uncertainties about its benefits and any gaps in the evidence. This will inform the collection of clinical data over the three years. In return, pharmaceutical companies must offer a discounted price. After three years, the SMC will review the evidence and make a decision on whether the medicine should continue to be used.
Next week the first medicine to become available through the pathway is for the neurological condition spinal muscular atrophy (SMA). SMA destroys nerve cells, leading to severe disability.
Nusinersen (Spinraza®) was the first treatment to be licensed in Europe for this devastating condition. Last year, Scotland was the first country in the UK to make it available for newborn babies with type 1 SMA. Before then as many as 90 per cent of type 1 SMA babies didn’t survive a year. However, whilst the evidence was compelling for improvement for babies with type 1 SMA, the SMC was unable to recommend its use in types 2 and 3 because the evidence wasn’t strong enough to justify its high cost. Doctors will now be able to prescribe nusinersen for patients with types 2 and 3. They will adopt a phased approach, starting with children before moving to adults. This phasing means that services can be safely configured to support the care associated with administering this medicine.
As well as nusinersen, other medicines to treat a range of serious conditions should become available this year. Timely access to innovative treatments should allow patients a better quality of, and potentially longer, life. I am hopeful that our new approach sets Scotland on a path to achieving better clinical outcomes for people living with extremely rare diseases.
Catherine Calderwood is grateful to Alison Strath, principal pharmaceutical officer, Julia McCombie, Scottish Government, and Anne Lee from the Scottish Medicine Consortium, for their contribution to this article.