NICE final draft guidance approves life-changing gene therapy for treating spinal muscular atrophy

A new and potentially curative one-off gene therapy for babies with the rare genetic disorder spinal muscular atrophy (SMA) is set to become the most expensive treatment ever approved by NICE.

NICE’s final  draft guidance published today (4 June 2021) recommends £1.79 million treatment Zolgensma (also called onasemnogene abeparvovec and made by Novartis Gene Therapies) for babies aged up to 12 months with type 1 SMA, This is one of the severest forms of the inherited condition and the life-expectancy of people with it is usually less than 2 years.

The draft guidance also recommends Zolgensma for babies with SMA before they develop symptoms as part of a managed access arrangement while further data is collected.

Despite the high cost of the treatment, it can be recommended for use on the NHS because of the evidence of exceptional benefit to young babies, potentially allowing them to reach normal childhood developmental milestones. Because of the limited trial data for children aged 7 to 12 months, their treatment should be discussed by a national multidisciplinary clinical team.

Meindert Boysen, deputy chief executive and director of the Centre for Health Technology Evaluation at NICE, said: “Spinal Muscular Atrophy is a very serious, debilitating and distressing condition that has very significant effects on every aspect of life of those with SMA, and their families and carers. Being able to support access to one of the most exciting recent innovations in life sciences, a one-off therapy designed to address the genetic root cause of SMA, is both humbling and rewarding.

“The committee concluded that Zolgensma represents an important development in treating SMA which could not only allow babies to gain important motor milestones such as independent sitting and walking, but for some babies who are diagnosed before they have symptoms, it might come close to being a cure.”

“As is the case with many new treatments for very rare diseases, limited evidence means there are uncertainties about the long-term benefits of Zolgensma. The collaborative effort of all involved in the evaluation has made it possible to recommend a treatment which, at its list price, is the most expensive drug NICE has ever evaluated, allowing the lives of babies who might otherwise have died before their second birthday to be transformed.”

The terms of the commercial deal negotiated by NHS England mean that children with type 1 SMA who, because of the limitations of the available evidence, currently fall outside these recommendations but fall within the scope of the drug’s marketing authorisation, will also be eligible to be considered for treatment by the national multidisciplinary clinical team.

SMA is a rare, progressive neuromuscular condition caused by a genetic mutation. It affects the nerves in the spinal cord controlling movement causing muscle weakness, progressive loss of movement, and difficulty breathing and swallowing.

NICE currently recommends the disease-modifying therapy nusinsersen for some people with pre-symptomatic SMA and types 1, 2 or 3 SMA as part of a managed access agreement. For people who can’t have nusinersen, their condition is managed through supportive care which aims to minimise the impact of disability, address complications and improve quality of life.

Around 65 babies are born each year in England with SMA, of whom about 60% are diagnosed with type 1 SMA.

NICE expects to publish its final guidance on Zolgensma in July 2021.

Being able to support access to one of the most exciting recent innovations in life sciences, a one-off therapy designed to address the genetic root cause of SMA, is both humbling and rewarding.

Meindert Boysen, deputy chief executive and director of the Centre for Health Technology Evaluation at NICE