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SMA and Nusinersen (Spinraza) The Story So Far....

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Presentation on theme: "SMA and Nusinersen (Spinraza) The Story So Far...."— Presentation transcript:

1 SMA and Nusinersen (Spinraza) The Story So Far....
Jennifer Dunne Neuromuscular Clinical Nurse Specialist – RHC - Glasgow

2 Aims: Basic genetics of SMA The history of Nusinersen and how it works
Clinical trials The development and delivery of Nusinersen in RHC – Glasgow Practical considerations as time goes on Case study – 1 year on from Nusinersen

3 What is SMA? SMA is a fault in the gene (SMN1) that codes for the Survival Motor Neurone (SMN) We have two copies of SMN1, one from each parent. The affected child is unable to make enough SMN protein as SMN1 is deleted or mutated Leading to loss of functional motor skills.

4 SMA SMA is unique : second copy of the SMN gene, SMN2
Patients survive owing to the SMN2 gene. The more SMN2 copies the more SMN protein produced SMA Type Onset Features Likely SMN2 copy number Prenatal Contractures, facial diplegia, respiratory failure 1 < 6 months Poor tone, weakness, mild contractures, tongue fasciculations 2 6 - 18months Low tone, absent reflexes, may sit independently 3-4 3 Childhood, > 18 months Able to walk 25 metres, onset of falls ~ age 2-3 4 Adult onset Weakness with onset in adulthood 4-8

5 Nusinersen and the SMN2 Gene
Nusinersen is an Antisense Oligonucleotide small snippets of synthetic genetic material that bind to ribonucleic acid (RNA)

6 Basically Nusinersen Improves expression of the SMN2 gene, converting it into SMN1 gene, thus increasing the level of SMN protein.

7 History of Nusinersen 2012 development began
2015 Biogen acquired exclusive license 2016 Nusinersen met its primary end point 2016 Biogen opened the Expanded Access Program – due to stop on Nov 2018 2018 (May) SMC approval of Nusinersen on the NHS for SMA 1 only – in Scotland 2018 (Aug) NICE did not approve it as a treatment for SMA – in England

8 Clinical Trails ENDEAR Phase 3 – 2014 terminated early 2016 CHERISH Phase 3 – 2014 until 2017 (closed early) EMBRACE Phase 2 – 2015 until April 2019 NURTURE Phase 2 – 2015 until Jan 2022 SHINE Phase 3 – 2015 until 2022

9 Delivery of Nusinersen in RHC – Glasgow
2016 Biogen opened ‘Expanded Access Program’ 2 patients 1st injection 8th Jun ‘17 3rd patient 1st injection 7th Dec ‘17 4th patient (SMA2) 1st injection 3rd Mar ‘18 - via NHS funding SMC approval May 2018 – now all funded by NHS

10 Schedule of Treatment Year 1 Year 2+

11 Practical Considerations
LP procedure is becoming more difficult Development of scoliosis The site is developing scar tissue The patients are getting older and more aware of what we are doing They are getting stronger - wriggling

12 Practical Considerations
We need to consider aesthetic procedure – midazolam unsuccessful Need a specific theatre list not just emergency list Protocol/Guidelines need developed Implications for adult patients are huge

13 SMA type 1 treated with Nusinersen are not SMA type 2 patients
New Phenotype

14 Case Study – Sophia Diagnosed April 2017 aged 6 months 1 copy of SMN2
1st treatment on 8 June 2017 aged 8 months Baseline CHOP was 37 After 6th injection 48 but more like 54 No respiratory issues No feeding issues Developing scoliosis – referred for lycra suit Leg length discrepancy

15 At Diagnosis Aged 6 Months

16 Aged 1yr 6 mths – 6 Injections
Sophia Aged 1yr 6 mths – 6 Injections

17 After 7th Injection – Year 2

18 Thank You Any Questions?

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