In our first condition-specific seminar, which marked SMA Awareness Month, Professor Laurent Servais, Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre, and Dr Suzan Hammond, Academic Researcher at the University of Oxford, talk about the latest in SMA research. They touched on newborn screening and studies into antibodies and molecular patches, and what the future of research looks like for SMA.
We were also joined by Dr Anne-Marie Childs, Consultant Paediatric Neurologist at Leeds Teaching Hospitals NHS Trust, and Felicity Vann, Senior Specialist Paediatric Physiotherapist at Evelina London Children’s Hospital, to discuss potential treatments for SMA – including Spinraza, Zolgensma and Risdiplam – with our Director of Campaigns, Care and Support, Rob Burley. The panel also explored how people living with SMA can best manage their condition, and talked about the use of spinal jackets and how best to access physiotherapy.
The headline sponsor for the MDUK Muscles Matter 2020 online seminar series is PTC Therapeutics [ Ссылка ], with additional sponsorship from Sarepta Therapeutics [ Ссылка ].
0:00 Introduction
6:04 SMA Treatment Pipeline
9:14 Therapeutic strategies for SMA
22:49 Research update from Suzan M Hammond, PhD
25:48 The genetics of SMA
27:17 Antisense Olignucleotide Therapy
38:35 Are there any studies into SMA type 4?
42:00 How close are we to new-born screening?
45:20 How does nusinursin and subsequent increase in protein help a symptomatic patient?
48:02 Introduction to 'Living with SMA' session
51:04 What support do neuromuscular services provide for people?
54:30 What is the role of a Care Advisor?
59:05 How is the pandemic affecting Physiotherapy?
1:04:18 Access to treatments
1:19:15 Do spinal jackets compromise breathing for SMA Type 1?
1:21:15 The importance of specialist SMA physiotherapy and advice
1:23:55 When can I access Risdiplam for SMA Type 3?
1:27:44 Conclusion
