Muscular Dystrophy UK: The first treatment for Spinal Muscular Atrophy (SMA)

Rob Burley, Director of Campaigns, Care and Support for Muscular Dystrophy UK, explains the first treatment for the genetic condition Spinal Muscular Atrophy.

In the UK, approximately 70,000 people are living with one of 60 rare, or ultra-rare, muscle-wasting conditions. These conditions cause muscles to weaken and waste away, leading to severe disability; for example some conditions affect the heart muscle and vital breathing muscles. Over the past few years, there has been a growth in the number of clinical trials for neuromuscular conditions, particularly for paediatric conditions such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy (SMA).

There is also an emerging pipeline of potential gene therapies that look to replace the underlying faulty genes that cause these devastating conditions and could transform the lives of patients. However, with this exciting pipeline of research comes the challenge of how to fund what will likely be very high cost treatments. Currently, the system in England is not able to meet this challenge and it is essential that innovative models to appraise and price these treatments are identified.

The first treatment for Spinal Muscular Atrophy

Spinraza (nusinersen) is the first treatment for the genetic condition spinal muscular atrophy. Around 1,300 people in the UK are living with spinal muscular atrophy, which causes degeneration of the lower motor neurons. This leads to progressive muscular weakness, muscle wasting and loss of movement. There are different forms of SMA and a wide spectrum of how severely children and adults are affected. The condition can affect aspects such as: crawling; walking ability; arm, hand, head and neck movement; breathing; and and swallowing. Without treatment, children with SMA Type 1 (the most severe form) rarely reach their second birthday.

Spinraza works by increasing levels of the survival of motor neuron (SMN) protein, which is critical for motor neuron function and is missing in people with SMA. Clinical trials have demonstrated that the drug has significant benefits on the outcome of affected SMA children, their health and survival. In babies with SMA Type 1, Spinraza significantly improved life expectancy and motor development. Functional improvements were also observed in children with other SMA types.

The drug was approved by the European Medicines Agency almost two years ago and is now available in 25 European countries, including Scotland. On 15 May, NICE, NHS England and Biogen announced they had reached an agreement on making the treatment available for people with SMA Types 1, 2 and 3. At the time of writing, we were waiting for this to be formalised. We need to ensure this decision is implemented as soon as possible, and made available UK-wide.

High Specialised Technology; a pathway for drug assessment

Aside from the frustration and heartache that that these delays are causing, there are fundamental challenges associated with NICE’s appraisal process that simply must be addressed. There are two pathways for assessing drugs in England: the Highly Specialised Technology (HST) route and the Single Technology Appraisal (STA) route. The decision to use the STA process for Spinraza, a route generally used for the appraisal of drugs and treatments for common conditions, was arguably misguided. A very limited number of complex treatments are appraised through the HST programme.

HSTs are referred to NICE by ministers and are selected using an arbitrary list of seven different criteria, all of which must apply. Spinraza did not meet all of the criteria, including not being organised or commissioned as a highly specialised service. It was also being assessed in line with its open licence for all SMA types (5q SMA) and therefore the population size would be considered larger than what normally is considered appropriate for HST.

However, not meeting the criteria for the HST evaluation does not make the STA route more suitable for a treatment like Spinraza. The Quality Adjusted Life Year, the measurement used to assess the quality of additional years of life gained as a result of the treatment, is inappropriate for such a devastating condition affecting infants like SMA. It does not accurately reflect the burden of the condition and subsequent benefits that patients and their carers experience in everyday life as a result of the treatment.

Furthermore, the cost of Spinraza for such a rare condition is substantially more than the threshold at which treatments are recommended for NHS use, which is used in NICE’s standard appraisal evaluations for mainstream drugs. The HST route takes a wider range of costs and benefits into account. But its arbitrary selection criteria leaves many rare diseases in the standard route meant for drugs and treatments for more common conditions.

The ultra-orphan pathway

In an effort to consider treatments for rare conditions such as SMA more fairly, the Scottish Government recently launched the ultra-orphan pathway. To qualify as an ultra-orphan medicine, a strict criteria should be met. This includes: the condition has a prevalence of one in 50,000 or less in Scotland, the medicine has an EMA orphan drug designation, the condition must be chronic and severely disabling, and the condition requires highly specialised management.

If a medicine is validated as an ultra-orphan drug and is deemed clinically effective by the Scottish Medicines Consortium (SMC) it will be made available on the NHS in Scotland for at least three years while further information on its effectiveness is gathered. Following this period, the SMC will review the evidence and make a final decision on its availability on the NHS in Scotland. This new process is more transparent and less subjective than its NICE equivalent and provides an opportunity for patients with these rare conditions to benefit from the latest treatments.

In certain cases, NICE does offer a Managed Access Agreement (MAA) for treatments so that patients can access a treatment whilst further information on its clinical effectiveness can be gathered. However, MAA’s are not normally issued for treatments on the STA route, which further underlines the inadequacy of the process for rare diseases. The NICE process was originally designed to provide consistent decisions for all technologies and populations. Yet, such an inflexible process is inappropriate and unfair to patients with rare diseases.
The high cost of these new and potentially life changing treatments is also a significant factor that is stalling access. Earlier this month, the US-based non-profit Institute for Clinical and Economic Review (ICER), which assesses the value of medical treatments, said both Biogen’s Spinraza and Novartis’ SMA gene therapy zolgensma were priced too high. It has urged drug-makers to balance innovation with affordability for health systems to ultimately significantly lower prices.

Patients deserve to benefit from new, safe and effective treatments

In a highly publicised case, Vertex Pharmaceuticals who make Orkambi (a precision medicine used to treat a mutation that affects around 50% of people with cystic fibrosis) has been criticised for failing to compromise on the cost of the drug, although it maintains it has offered NHS England “the best price in the world”. Consequently, NICE says it cannot justify recommending this treatment that could help many cystic fibrosis patients living in England.

The NHS has a finite resource and they must consider the cost versus the added benefit a new treatment brings. However, if doubts of added long-term benefit exist, despite robust data from global clinical trials, NICE should utilise other routes available more readily, such as the MAA. Furthermore, with the emergence of promising trials for gene therapies, the challenge of how to fund high cost treatments will be even more pressing and NICE must have a process that is trusted and transparent.

For people with muscle-wasting conditions, every day counts. We will continue to work with other charities to encourage policy-makers to develop appropriate pricing models and a reimbursement system that is fit for purpose. We are also working with partner organisations within the Innovative Medicines Initiative project PREFER to develop recommendations as to how health technology assessment bodies and other stakeholders can integrate patient preferences (such as benefit-risk assessments) into their decision making. In the shorter term, we will fight for flexibility from all parties involved in the process for Spinraza. Patients deserve to benefit from new, safe and effective treatments as quickly as possible.

Rob Burley
Director of Campaigns,
Care and Support
Muscular Dystrophy UK

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