RARE Daily

NICE Recommends Novartis’ Gene Therapy for SMA

March 8, 2021

Rare Daily Staff

The U.K.’s drug pricing watchdog the National Institute for Health and Care Excellence issued draft guidance that recommends $2.5 million (£1.79 million) gene therapy Zolgensma, Novartis Gene Therapies’ treatment for the rare and deadly neurodegenerative condition spinal muscular atrophy type 1.

NICE’s recommendation is for babies aged up to 12 months with type 1 SMA. The guidance also recommended Zolgensma for babies with SMA before they develop symptoms as part of a managed access arrangement while further data is collected.

SMA is a rare genetic disease caused by a mutation in the SMN1 gene, which encodes the protein critical for the maintenance and function of specialized nerve cells called motor neurons. If there is not enough functional SMN protein, then the motor neurons die, leading to debilitating and often fatal muscle weakness. Infantile-onset SMA is the most severe and most common subtype of SMA. Children with this condition have problems holding their head up, swallowing and breathing. These symptoms may be present at birth or may present by the age of six months.

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

Zolgensma is a one-and-done gene therapy designed to address the genetic root cause of spinal muscular atrophy by providing a functional copy of the human SMN gene to halt disease progression through sustained SMN protein expression. It is approved to treat patients with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene. It is also approved to treat infants who are pre-symptomatic at diagnosis.

NICE said that Zolgensma, even with its high cost, was being recommended because of 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.

“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,” said Meindert Boysen, deputy chief executive and director of the Centre for Health Technology Evaluation at NICE. “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 authorization, will also be eligible to be considered for treatment by the national multidisciplinary clinical team.

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

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