A new autoinflammatory disease linked to HMGCS1 deficiency has been identified. This genetic flaw disrupts the mevalonate pathway, crucial for producing cholesterol and other essential molecules. The condition leads to progressive muscle inflammation, or myositis, suggesting both metabolic and immune system issues are involved.
The discovery could help explain why some patients experience worsening muscle damage despite standard treatments. It highlights how metabolic pathways like the mevalonate pathway can influence immune responses and muscle health, potentially paving the way for targeted therapies addressing the root cause rather than just symptoms (Aksentijevich et al., 2025).
Clinical Trials
This is a list of upcoming or ongoing clinical trials that are actively recruiting and have been listed or updated in the last two weeks:
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