Agenda

09:00 Welcome and Introduction – prof. dr med. Anna Kostera-Pruszczyk
09:05 Natural history of SMA in the light of research on molecular basis and pathogenesis of the disease – dr med. Maria Jędrzejowska
09:25 Noninvasive respiratory management of neuromuscular diseases including extubation of the ventilator 'unweanable' patient – prof. dr med. John Bach
09:45 Nutritional care in spinal muscular atrophy – dr med. Simona Bertoli
10:05 Spine, pelvis and hip joints in SMA patients – position and movement disfunctions, compensation and prevention – Łucja Mazurkiewicz, Joanna Sikora.

10:30 Patients' expectations towards treatment efficacy – results of an European survey – Patryk Marczuk
10:40 Outcome measures used in SMA Marion Main
11:00 Polish experiences in clinical trials in SMA: the Olesoxime trial – dr med. Anna Łusakowska
11:15 Pharmacological therapies in SMA: current state of clinical development – prof. dr med. Anna Kostera-Pruszczyk
11:35 Effects of nusinersen in treating patients with SMA type 1 – dr med Julita Borkowska, prof. dr med. Katarzyna Kotulska, dr med. Laurent Servais
12:00 Safety and efficacy in the first-in-human trial of the oral splice modulator branaplam in Type 1 Spinal Muscular Atrophy (SMA): Interim Results – dr med. Lawrence Charnas (Novartis)
12:10 Roche's investigational compounds in SMA (tbc).

Sit-down lunch in medical specialisation groups to allow for in-depth discussion and experience sharing. Only for participants of the Expert Meeting.