Self-Assessment: Add-on Therapy for SMA | Navigating Through the Available Therapies for Duchenne: How Do You Choose?-Add-On Therapy to SMA: Session recording

Video Transcription

Video Summary

The session outlined emerging therapies for treating spinal muscular atrophy (SMA), covering myostatin inhibitors, small molecule treatments, and antisense oligonucleotide therapies (ASOs). Myostatin, a negative regulator of muscle growth, is explored as a target for promoting muscle gain in SMA patients, as current FDA-approved treatments like nusinersen primarily focus on neuronal maintenance rather than muscular enhancement. Various myostatin inhibitors in trials, including monoclonal antibodies and engineered proteins, have shown promise in improving muscle function in animal models and early human trials.<br /><br />Nusinersen, an established ASO, has proven efficacy in improving motor function in SMA patients by enhancing SMN protein production from the SMN2 gene. However, despite its success, unmet needs persist, prompting the exploration of higher dosage regimens and its use in combination therapies, such as after gene replacement therapy. RESPOND and DEVOTE trials aim to assess these newer regimens and combinations, with initial findings indicating enhanced functional outcomes without significant safety concerns.<br /><br />Small molecule therapies like NMD670 are being investigated for potential to improve neuromuscular junction transmission, offering another angle for SMA treatment. The session highlighted ongoing innovations to improve the delivery of ASOs, such as through subcutaneous ports, aiming to reduce procedural burden for patients. Overall, while substantial progress has been made in SMA treatment, ongoing research seeks to address residual deficits, emphasizing muscle strength, functional improvement, and symptom reduction.

Keywords

spinal muscular atrophy

SMA

myostatin inhibitors

antisense oligonucleotide therapies

nusinersen

SMN protein

gene replacement therapy

RESPOND trial

DEVOTE trial

small molecule therapies

neuromuscular junction

nmj

neuromuscular junction

spinal muscular atrophy

SMA