Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients
Risdiplam is a well-tolerated treatment in our cohort of adult type 2 and type 3 SMA patients and resulted in improvement or stabilization in motor functions. MFM32 proved to be sensitive to detect changes induced by therapy. Subjective meaningful improvements were sustained overtime especially in bulbar functions, breath fatigue and distal motor abilities.
Authors
- Edoardo Malfatti (ORCID: https://orcid.org/0000-0001-7871-8600)
- Sarah Souvannanorath (ORCID: https://orcid.org/0000-0001-7986-0983)
- Gianmarco Severa
- François‐Jérôme Authier (ORCID: https://orcid.org/0000-0002-0182-2052)
- M Alfaro
- Hussein Shoaito
- Christophe Alimi Ichola
Institutions
- Inserm (FR)
- Institut Universitaire de France (FR)
- Université Paris-Est Créteil (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpitaux Universitaires Henri-Mondor (FR)
- Université Gustave Eiffel (FR)
- Institut Mondor de Recherche Biomédicale (FR)
- Instituto Nacional de Ciencias Neurológicas
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-11-20
- DOI
- https://doi.org/10.1186/s13023-024-03442-0
- Citations
- 6
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.63