Clinical Trials Round Up/Research Updates-Dr. Fay Clinical Trials Presentation

Dr. Fay Clinical Trials Presentation

Pdf Summary

The document provides an in-depth update on recent clinical trials and developments in treatments for Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) as outlined by Dr. Alex Fay in 2024. Dr. Fay notes his financial disclosures, which include roles as a consultant and researcher for various pharmaceutical companies and organizations.<br /><br />**Duchenne Muscular Dystrophy (DMD):** Several treatment avenues are being explored:<br /><br />1. **Steroids & Vamorolone:** Vamorolone, a dissociative steroid, has shown improved motor outcomes and superior growth metrics in boys with DMD compared to prednisone over a long-term trial.<br /><br />2. **Mutation-Independent Treatments:** These include HDAC inhibitors like Givinostat, which are found to prevent fibrosis and promote muscle regeneration, alongside other inhibitors and monoclonal antibodies.<br /><br />3. **Mutation-Specific Therapies & Exon Skipping:** Various exon-skipping drugs like Eteplirsen, Viltolarsen, and Golodirsen are under trial or approval to target specific mutations in DMD for prolonged ambulation and reduced decline in respiratory function.<br /><br />4. **Gene Therapy:** Several gene therapies, such as Delandistrogene moxeparvovec, have been approved under specific criteria, while others remain in trials due to safety concerns or mixed efficacy results.<br /><br />**Spinal Muscular Atrophy (SMA):** Treatments include:<br /><br />1. **SMN2 Targeting:** Nusinersen continues to be effective in presymptomatic SMA with higher doses under investigation.<br /><br />2. **Gene Therapy:** Onasemnogene abeparvovec is used for both intravenous and intrathecal delivery, showing promise in improving bulbar functions and overall quality of life, though it presents some serious adverse events.<br /><br />3. **Risdiplam:** Demonstrated stabilization or improvement in motor function in patients during trials.<br /><br />Overall, the document emphasizes the continued advancements in treating these genetic disorders, highlighting the potential and challenges of various therapies under investigation.

Keywords

Duchenne Muscular Dystrophy

Spinal Muscular Atrophy

SMA

clinical trials

gene therapy

exon skipping

Vamorolone

Givinostat

Nusinersen

Onasemnogene abeparvovec

Risdiplam

spinal muscular atrophy

SMA