A series of case reports from JEWELFISH, an open-label study to investigate the safety, tolerability, and pharmacokinetics/ pharmacodynamics of RG7916 in adult and pediatric patients with spinal muscular atrophy who previously participated in a study with another SMN2-targeting therapy

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Spinal muscular atrophy (SMA) is a rare genetic disease caused by the mutation or deletion of the survival motor neuron 1 (SMN1) gene. SMA is characterized by progressive degeneration of spinal motor neurons, leading to muscle weakness and atrophy. Humans carry two, almost identical copies of SMN genes: SMN1 and SMN2. While SMN1 expresses full-length SMN protein, exon 7 is mostly skipped from SMN2 transcripts. RG7916 is a highly selective, orally available, investigational small molecule designed to modify the splicing of the SMN2 gene, resulting in the production of full-length SMN2 mRNA.

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