Spinal Muscular Atrophy type 1: expanded access programme

All children under Great Ormond Street Hospital’s (GOSH) care diagnosed with type 1 Spinal Muscular Atrophy (SMA-1) are to be offered treatment with Nusinersen under an Expanded Access Programme. 

This new drug, which seeks to correct the faulty SMN protein expression that causes Spinal Muscular Atrophy (SMA), has been subject to a highly successful multi-centre global trial, which included GOSH. This saw striking results where the drug delivered visible improvements in motor and respiratory outcomes.

On clinical evidence and following ethical consideration, clinicians at GOSH have advocated for their patients to receive the drug immediately. To this end the hospital has been in active dialogue with the drug manufacturer Biogen, NHS England and the SMA support groups.

The drug company has agreed to provide, without cost, a lifetime supply of the drug to all children diagnosed with SMA-1 currently under GOSH’s care. It has also undertaken to provide the drug on the same basis for future children diagnosed or under the care of the neuromuscular team at GOSH. 

This arrangement stands until such time a decision is reached by the NHS about the future use of the medicine in the UK.  

This collaboration between GOSH and Biogen recognises the Hospital’s position as a leading centre of medical research that brings pioneering new treatments into practice at the earliest possible date.  

The management of children with SMA-1 is undertaken collaboratively, between the local district hospital and the regional children’s hospital. If families wish to know whether their child can be seen at GOSH, they can contact their local consultant paediatrician who will be able to advise them about the referral pathways.

For advice and support on the management of SMA, patients should contact their local paediatrician.  The following websites are additional resource:


My child has SMA, but it is NOT type 1. Can he/she be treated at GOSH?

  • No. GOSH is only able to offer Nusinersen treatment of children with SMA-1. GOSH is not in a position to offer Nusinersen to patients with SMA-2 or SMA-3. 

How will Nusinersen be administered?

  • Treatment with Nusinersen starts with three injections by lumbar puncture into the spinal fluid, carried out 15 days apart – followed by a fourth injection one month later. Patients then receive one injection every four months for life.
  • All patients will be seen by at GOSH for a baseline assessment in advance of the first treatment being administered. The child must be fit and well and able to stay overnight at GOSH after the first treatment so that any response to the drug can be monitored.  All future visits should be as day-patients.

What if I cannot take my child to the hospital on the exact dates recommended?

  • There is some flexibility as there is a two day window within which time the drug must be administered for the 1st four doses, and one week window for the subsequent  doses which are given at 4 monthly intervals.

What will happen next?

  • All parents of children with SMA-1 currently being treated at GOSH have been contacted in June 2017 and these parents have been advised of provisional start dates for their children's treatment. 

My child has already received initial doses of Nusinersen outside the UK.  Will he/she be eligible for treatment at Great Ormond Street Hospital or will we have to continue travelling abroad for treatment?

  • The drug will be available for all children who are currently patients of the GOSH neuromuscular team, regardless of whether or not they have already received initial treatment elsewhere.  

My child has already received his/her first round(s) of injections abroad. Will he/she need to stay overnight?

  • No. If medical records indicate that initial doses of the drug had gone well in another hospital, the patient would be treated as a day patient.  

What will happen if and when Nusinersen is authorised for use by the NHS?

  • Treatment for all patients will continue if the NHS authorise use of the drug.

What will happen if Nusinersen is not authorised for use by the NHS?

  • Biogen has committed to provide Nusinersen, free of charge, for life, to current SMA-1 patients under treatment at GOSH, as long as this treatment is beneficial and clinically indicated. 
  • Biogen has also committed to the provision of Nusinersen for newly diagnosed children until such time as a decision is made by the NHS about future use. 

Will GOSH and Biogen continue to treat my child if this course of treatment is not showing any actual progress or improvements?

  • If a child does not benefit as expected from receiving Nusinersen, the clinical team will discuss with the parents whether or not it would be in his or her best interests to continue with the treatment. This will very much be on a case-by-case basis.

I am not currently being treated by GOSH, can I be referred to the hospital or will I be able to receive the treatment if I move to the area or pay for the treatment? 

  • Biogen has only agreed to supply Nusinersen to GOSH for children diagnosed with SMA-1 who are already under the care of the GOSH neuromuscular team. 
  • Other families should contact their local paediatrician and regional paediatric neurologist to discuss whether they can access this treatment locally.
  • GOSH will not be offering the treatment privately.

What is the status of approval of Nusinersen?

  • The European Medicines Agency (EMA) has recommended to the European Commission that Nusinersen can be marketed and made available to patients. Nusinersen is yet to be considered by the National Institute for Health and Care Excellence (NICE) in the UK but a decision is expected to be delivered in not less than 12 months. NICE approval is required before Nusinersen can be offered as an NHS treatment.