Branaplam / LMI070 is an investigational drug designed to treat spinal muscular atrophy (SMA), a rare neuromuscular disorder that is the leading genetic cause of death in infants and toddlers. SMA is caused by a deficiency of survival of motor neuron (SMN) protein resulting from the deletion or a loss of function mutation of survival motor neuron 1 (SMN1). A compensatory gene called SMN2 is identical to SMN1 but for a single nucleotide mutation, which results in a predominantly mis-spliced RNA transcript, and an unstable truncated SMN protein. Branaplam corrects this SMN2 splicing defect through stabilization of the U1 spliceosome/SMN2 pre-mRNA complex to increase levels of full length SMN protein and ameliorate the symptoms of SMA. Taking advantage of a wealth of transcriptomic information, and an understanding of the mechanism and structure of RNA-U1 snRNP complex binding, we are exploring the application of small molecule-induced RNA-splicing modulation to other diseases, and results from these studies will be presented.

Development of small molecule modulators of the U1 spliceosome/pre-mRNA complex for the treatment of human diseases

Macromolecular Chemistry: The Second Century

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ACS Spring 2020 National Meeting & Expo

The official archive and repository for all ACS Meetings & Expositions abstracts and select posters or presentations.