Related Experiment Video
Updated: Aug 13, 2025
Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
Published on: May 11, 2018
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development,
Annemieke Aartsma-Rus1,2, Willeke van Roon-Mom3,2, Marlen Lauffer3
1Dutch Center for RNA Therapeutics and Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands a.m.rus@lumc.nl.
Abstract:
Splice-modulating antisense oligonucleotides (ASOs) offer treatment options for rare neurological diseases, including those with very rare mutations, where patient-specific, individualized ASOs have to be developed. Inspired by the development of milasen, the 1 Mutation 1 Medicine (1M1M) and Dutch Center for RNA Therapeutics (DCRT) aim to develop patient-specific ASOs and treat eligible patients within Europe and the Netherlands, respectively. Treatment will be provided under a named patient setting. Our initiatives benefited from regulatory advice from the European Medicines Agency (EMA) with regard to preclinical proof-of-concept studies, safety studies, compounding and measuring benefit and safety in treated patients. We here outline the most important considerations from these interactions and how we implemented this advice into our plan to develop and treat eligible patients within Europe.
