2 New Treatments Approved for 500 Children with Rare Disease

By VirentaNews Staff — May 14, 2026

In a landmark decision for rare disease treatment, the National Institute for Health and Care Excellence (NICE) has approved two advanced therapies for spinal muscular atrophy (SMA), a condition that affects approximately one in 10,000 live births and is the leading genetic cause of infant mortality. Without treatment, children with the most severe form of SMA often cannot sit unaided and may not survive past their second birthday. Now, with access to nusinersen and onasemnogene abeparvovec, hundreds of children across England will have the chance to achieve motor milestones, breathe independently, and live longer lives. Families and advocacy groups have described the move as nothing short of transformative, calling it a long-overdue lifeline after years of campaigning for equitable access to these therapies.

A Turning Point in Rare Disease Care

Spinal muscular atrophy, caused by a mutation in the SMN1 gene, leads to the progressive loss of motor neurons, resulting in muscle weakness, respiratory failure, and, in severe cases, early death. Until recently, treatment options were limited to supportive care, but the advent of gene-targeting therapies has revolutionized outcomes. The approval of nusinersen, administered via spinal injection, and onasemnogene abeparvovec, a one-time gene therapy delivered intravenously, marks a pivotal shift in how SMA is managed within the NHS. The decision follows years of negotiations over cost, efficacy, and long-term benefits, with NICE previously restricting access based on clinical criteria and age thresholds. Now, the final draft guidance removes those barriers, recommending treatment for any patient—regardless of age or disease stage—who is likely to benefit, signaling a major expansion in eligibility.

What the Approval Means for Patients

The two approved therapies work through different mechanisms but share the same goal: restoring functional SMN protein, which is essential for motor neuron survival. Nusinersen, marketed as Spinraza by Biogen, modifies the SMN2 gene to increase SMN protein production and requires lifelong dosing. Onasemnogene abeparvovec, sold as Zolgensma by Novartis, delivers a functional copy of the SMN1 gene directly into cells using a viral vector, offering a potential one-time cure for younger patients. Clinical trials have shown that infants treated before symptom onset often achieve the ability to sit, crawl, or even walk—milestones previously unimaginable. The NHS estimates that around 500 patients will benefit from the expanded access, including older children and adolescents who were previously excluded. Parent advocacy groups, such as SMA UK, have welcomed the decision, emphasizing that even patients with advanced disease can experience meaningful improvements in respiratory function and quality of life.

Overcoming Cost and Access Barriers

One of the biggest hurdles to widespread adoption of these therapies has been cost. Zolgensma, in particular, is among the most expensive drugs in the world, with a list price of around £1.9 million per dose, raising concerns about sustainability within a publicly funded health system. However, confidential commercial agreements between the NHS and pharmaceutical companies have made the treatments financially viable. NICE’s decision was informed by real-world data from countries like the United States and Germany, where early treatment has reduced the need for long-term ventilatory support and hospitalizations, ultimately lowering overall healthcare costs. Experts argue that the long-term savings—from avoided ICU stays, reduced palliative care, and decreased reliance on home nursing—justify the initial investment. As Dr. Helen Boucher, a consultant in pediatric neurology, noted, “Treating SMA early doesn’t just extend life—it prevents irreversible neurological damage, reducing the lifelong burden on families and the health system.”

Impact on Families and the NHS

The implications of this decision extend far beyond individual patients. For families, access to treatment means the end of agonizing waits and uncertain futures. Parents who once faced the prospect of their child never walking or speaking can now plan for school, therapy, and developmental progress. The psychological relief is profound, with many describing a renewed sense of hope. For the NHS, the rollout presents logistical challenges, including training specialists in gene therapy administration, expanding spinal injection capacity, and ensuring equitable access across regions. However, the health service has already established specialized SMA centers to coordinate care. Moreover, the approval sets a precedent for how the NHS evaluates high-cost, high-impact treatments for rare diseases, potentially paving the way for similar decisions in conditions like Duchenne muscular dystrophy and Rett syndrome.

Expert Perspectives

While the approval is widely celebrated, some experts urge caution. Professor Andrew McKeown, a health economist at the University of Manchester, warns that “while these therapies are transformative, their long-term efficacy beyond a decade remains unknown.” Others emphasize the need for ongoing monitoring to assess durability, especially for Zolgensma. In contrast, patient advocates argue that waiting for perfect data costs lives. “Every day without treatment is a day of preventable decline,” says Sarah Rose, policy director at SMA UK. The debate underscores a broader tension in healthcare policy: balancing innovation with affordability and evidence standards.

Looking ahead, the focus will shift to implementation—ensuring that every eligible child is identified quickly and treated without delay. Newborn screening for SMA, already routine in the U.S. and parts of Europe, is under review in the UK and could further improve outcomes by enabling pre-symptomatic treatment. As gene therapies continue to evolve, this decision may be seen as a watershed moment in the NHS’s approach to rare diseases—proving that with political will and smart negotiation, even the most costly treatments can become standard care.

Source: The Guardian