SMA therapies (a LinkAGE webinar)

This LinkAGE webinar provides an overview of spinal muscular atrophy, modern drug trials for it and therapies against it, including the gene therapy Zolgensma. It was presented by the consultant paediatric neurologist Dr Louise Hartley. We have provided timestamps, video chapters and transcriptions to help you find what you need. The webinar and Q&A was broadcast live on 9 March 2023.

By the end of this webinar, you should be able to:

- explain the genetic basis for spinal muscular atrophy and the resultant spectrum of disease, including the prodromal phase;
- discuss the mechanism of action of the three new treatments now available to treat SMA; and
- appreciate the range of effectiveness of the treatments and the role of each in the treatment of SMA.

What is the LinkAGE expert webinar series?
The Genomics Education Programme's LinkAGE (Linking Academia and Genomics Education) series will aim to provide expert seminars on exciting ‘bench-to-bedside’ projects that are likely to impact on clinical practice in the not-too-distant future.

Who is the LinkAGE expert webinar series aimed at?
This webinar series is aimed at researchers, clinicians and other healthcare professionals who already have a strong understanding of fundamental genomics concepts. If you are just starting your learning journey, or need a quick refresher, we encourage you to visit our website: www.genomicseducation.hee.nhs.uk

Meet the speaker
Dr Louise Hartley works as a consultant paediatric neurologist at the Royal London Hospital, since 2018. From 2003 to 2017, she worked at the University Hospital of Wales, Cardiff, setting up the paediatric neuromuscular service for Wales and initiating the treatment of SMA patients with nusinersen (Spinraza) therapy. Since 2022, Dr Hartley has worked with the neuromuscular service at the Evelina Children’s Hospital London to provide onasemnogene abeparvovec (Zolgensma) gene therapy for children with SMA. Dr Hartley is also the chair of the British Paediatric Neurology Association (BPNA) distance learning course, where she works with international writers to provide up-to-date teaching material which are accessed by students from all over the world. She also teaches on the BPNA short courses: paediatric epilepsy, neonatal neurology and acute neurology.

TIMESTAMPS
00:00 Introductions and talk overview
02:57 What is SMA? About its types and genomics
12:50 What symptoms should clinicians look out for for the different SMA types?
19:39 Intro of nusinersen, risdiplam and Zolgensma treatments
21:44 Clinical trials - an overview
23:25 Endear: a nusinersen clinical trial in babies (in depth)
30:42 The Fish trials for risdiplam (Rainbow-, Fire-, Sun-, Jewel-fish)
36:13 Zolgensma: overview, treatment, side effects, considerations
41:57 Treatment benefits of nusinersen, risdiplam and Zolgensma
42:11 About the presymptomatic clinical trials (Spr1nt, Rainbowfish, Nurture)
45:55 What are we seeing from real-world data?
50:31 New understandings: SMN gene and SMA disease progression
56:11 Combination therapies
57:21 Q&A and wrap up

Footnote
The Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.

For more information visit https://www.genomicseducation.hee.nhs.uk