Biogen says it is “optimistic” that patients in England and Wales with a rare spinal disorder will get rapid and broad access to Spinraza via the National Health Service in England and Wales.

According to the firm, the National Institute for Health and Care Excellence (NICE) has formally invited the group to submit Spinraza (nusinersen), which it notes is the first and only disease-modifying treatment for the condition, for assessment via the Single Technology Appraisal (STA) route.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular, serious, debilitating, and life-threatening rare disease, and is the leading genetic cause of death in infants.

At any one time, it is thought that there are between 650 and 1,300 children and adults in the UK living with the condition, and those with the most severe form of rarely live until two years of age.

Spinraza is an antisense oligonucleotide (ASO) designed to treat SMA caused by mutations or deletions in the SMN1 gene located in chromosome 5q that leads to SMN protein deficiency.

The therapy was cleared for use in Europe in following accelerated assessment in May 2017, based on data from two pivotal multicenter, controlled studies which showed clinically meaningful efficacy and a favourable benefit-risk profile, the company previously said.

In the ENDEAR end of study analysis, infants given Biogen’s drug demonstrated a 47 percent reduction in the risk of death or permanent ventilation, while an analysis from the CHERISH trial showed a statistically significant and clinically meaningful improvement in motor function in children with later-onset SMA, with a treatment difference of 5.9 points in the mean change from baseline to Month 15 on the Hammersmith Functional Motor Scale Expanded (HFMSE) between those treated with Spinraza and those untreated.

Since its approval last year NICE has been reviewing the best route for the appraisal of Spinraza and, thus far, the treatment has only received a green light for reimbursement in Italy and Sweden, with ongoing negotiations taking place in other EU nations.

“Whilst we have been disappointed by the delays in the NICE process so far, we have been encouraged by a recent meeting with NICE and NHS England, where the need to respond to specific STA and access challenges in appraising nusinersen was expressly acknowledged, and an immediate plan for a Managed Access Agreement that can work alongside the STA process was agreed,” said Terry O’Regan, managing director of Biogen UK and Ireland.

“Now is the time for all stakeholders to work together to ensure as many patients as possible get rapid access to this life saving medicine.”