Nusinersen for Spinal Muscular Atrophy SMA: update

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

Nusinersen is a drug that seeks to correct the faulty SMN protein expression that causes Spinal Muscular Atrophy (SMA), and 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.Children with SMA Type-1 have had access to this treatment since 2017.

On the 26th of June 2019 NICE now announced that their guidance on access to nusinersen published on 26th June 2019 see announcement here. This guidance also makes Nusinersen available for children with SMA Type 2 and Type 3. In July 2019 NHS England published a Managed Access Agreement (MAA) that outlines the eligibility criteria for patients receiving this treatment. The MAA can be viewed here . It is important to note that access will be subject to the starting criteria outlined in the MAA – including, most importantly, patients must not be permanently ventilated and there must be full consultation between the family and the treating clinician

All Children with SMA Type 1. previously given treatment on the EAP will continue to have access to treatment.

Following the release of the NICE Guidance and the MAA, The Neuromuscular Team have been working very hard to plan to implement Nusinersen treatment for Children with SMA Type 2 and Type 3. The additional work is a huge additional workload so has required careful planning. We appreciate your understanding and patience during this time. We are pleased to say that we will being providing this treatment to eligible patients from November 2019.

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

• SMA UK
• Treat NMD

• All patients will be seen by at GOSH for a baseline assessment in advance of the first treatment being administered. The treatment is given as a day-case in most circumstances. Your Consultant will let you know if they think your child will require an overnight stay. When they receive their treatment your child must be fit and well on the day to receive their treatment.
• 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.

• 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.

• For children who meet the criteria for treatment we will start providing treatment in November. You should have received a letter asking you to phone the Neuromuscular Department to arrange an appointment to conduct the baseline tests
• There are some patients who have severe scoliosis, or who have spinal fusion surgery, both of which can can impact on the ability of clinicians to undertake the lumbar puncture required for Nusinersen treatment. For this reason, an individual assessment of each such patient will be undertaken in the next two months involving a multidisciplinary team. Following this assessment, we will contact you to discuss the potential for providing intrathecal Nusinersen treatment for your child.

• 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.  

• 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.

• All UK neuromuscular paediatric centres will be able to offer Nusinersen treatment. If you are not currently a patient of GOSH please contact your local paediatrician and/or  regional paediatric neurologist to discuss whether the arrangements for providing treatment at your nearest UK Neuromuscular Paediatric Centre
• Please note that GOSH will not be offering the treatment privately.

Dr Giovanni Baranello, Consultant, Isobel Steane, Specialist Paediatric Dietitian, and Natalie Smith, Neuromuscular Nurse Specialist, at GOSH said:

“We are aware some of our patients with Spinal Muscular Atrophy (SMA) have decided to begin the amino acid diet to manage their condition.

“While we respect the choice of families that make this decision, we currently don’t advise patients to go on the amino acid diet because we don’t feel there is enough evidence surrounding its effectiveness.

“We think it is important to assess the effectiveness of the diet so are co-ordinating a group of clinical and nutritional specialists to look into this. We will use their findings to look again at whether we can advise our patients to go on the amino acid diet.”

This page was last updated December 2019