Get Spinal And Bulbar Muscular Atrophy - Advances In Clinical ...

Combatting SMA has been a challenging endeavor; however, the recent development of 3 novel, now FDA-approved treatments—nusinersen, onasemnogene abeparvovec, and risdiplam—has significantly altered the course of SMA. Still, research continues to work toward improving outcomes in these patients.

Screening for SMA may lead to early detection and facilitate prompt treatment using nusinersen [71,72]. In March 2021, Italy received a new gene therapy drug called onasemnogene abeparvovec (Zolgensma). This drug was approved by the FDA in July 2019 and by the EMA in May 2020.

The most advanced therapeutic strategies in SMA aim to restore SMN protein function through a | insertion of SMN1 gene or b | modulation of SMN2 splicing, which results in SMN1-like, elongated SMN protein, or c | small molecules that are likely to increase SMN production through interaction with SMN2 RNA.

The FDA has approved two medications to treat SMA: nusinersen and onasemnogene abeparvovec-xioi. Both are forms of gene therapy that affect the SMN1 and SMN2 genes, which are involved in SMA. These genes give your body instructions for making a protein that helps control muscle movement.

One approach researchers are pursuing for SMA focuses on protecting muscles from paralysis and increasing their strength. Although this approach does not fix the underlying genetic problem in SMA, drugs that enhance muscle function could likely be used in combination with other therapies that act on the SMN genes.

Gene therapy for SMA is called onasemnogene abeparvovec-xioi (brand name Zolgensma®). Zolgensma delivers a new, working copy of a human SMN gene that is administered in a one-time infusion to children under 2 years old.

To date, three orphan drugs have been approved for the treatment of SMA: nusinersen, an antisense oligonucleotide, onasemnogene abeparvovec, a gene therapy, and risdiplam, a SMN2 pre-mRNA splicing small-drug modifier.