Self-Assessment: Add-on Therapy for SMA | Navigating Through the Available Therapies for Duchenne: How Do You Choose?-Add-On Therapy to SMA: Dr. Stanley-Copeland Presentation

Add-On Therapy to SMA: Dr. Stanley-Copeland Presentation

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The document provides an overview of early studies and therapeutic advancements targeting Spinal Muscular Atrophy (SMA) and related conditions. It discusses the use of intrathecal onasemnogene abeparvovec (OA), aiming to address unmet needs by allowing for more effective neuronal transduction and broader tissue distribution compared to the intravenous route. The STRONG Phase 1 study, focusing on non-ambulatory patients with SMA, highlighted the benefits of medium-dose OA in improving motor function measured by the Hammersmith Functional Motor Scale Expanded (HFMSE).<br /><br />Additionally, ClC-1 chloride channel inhibitor NMD670 showed promise in ameliorating muscle function in both rat models and myasthenia gravis (MG) patients. This treatment is now being evaluated in a Phase 2 study targeting Type 3 SMA patients under the SYNAPSE-SMA trial.<br /><br />Further developments include the identification of the G470R variant of Hspa8 as an SMA modifier and the benefits of nifedipine and GV-58 in neuromuscular junctions, which improve synaptic transmission in SMA models.<br /><br />The document also details the JEWELFISH study, which evaluates Risdiplam's effectiveness in previously treated SMA patients, showing an increase in SMN protein levels. Safety data for various therapies is provided, emphasizing their general tolerability and minor adverse effect profiles.<br /><br />In conclusion, the continued exploration of small molecule therapies provides promising avenues for enhancing SMA treatment regimens. The document highlights the importance of ongoing clinical trials and future studies to validate these findings and leverage them in practical treatment scenarios.

Keywords

Spinal Muscular Atrophy

SMA

intrathecal onasemnogene abeparvovec

STRONG Phase 1 study

Hammersmith Functional Motor Scale Expanded

ClC-1 chloride channel inhibitor

NMD670

SYNAPSE-SMA trial

G470R variant of Hspa8

JEWELFISH study

Risdiplam

spinal muscular atrophy

SMA