Efficacy and Safety of Sialic Acid Extended-release for GNE Myopathy: A Systematic Review and Meta-analysis
Khalid Sarhan1, Rashad G. Mohamed2, Ibrahim Serag1, Mohamed Abouzid3, Ahmed Negida4
1Faculty of Medicine, Mansoura University, Mansoura, Egypt, 2Mansoura Manchester Program for Medical Education, Faculty of Medicine, Mansoura University, Mansoura, Egypt., 3Department of Physical Pharmacy and Pharmacokinetics, Faculty of Pharmacy, Poznan University of Medical Sciences, Rokietnicka 3 St., 60-806 Poznan, Poland, 4Virginia Commonwealth University
Objective:

To assess the efficacy and safety of aceneuramic acid in patients with GNE myopathy.

Background:

GNE myopathy is a rare hereditary muscle disorder characterized by progressive muscle weakness, primarily affecting the distal muscles. Aceneuramic acid (sialic acid) has been investigated as a potential therapeutic agent to slow disease progression. However, its safety and efficacy remain uncertain, necessitating a systematic review and meta-analysis to synthesize available evidence.

Design/Methods:

A systematic search was conducted in PubMed, Scopus, Web of Science, and the Cochrane Library up to September 2024 to identify all eligible studies. Four studies were included, and a random-effects model was used for meta-analysis with RevMan software. Primary outcomes included Upper Extremity Composite (UEC), Lower Extremity Composite (LEC), and Knee Extensor strength at 24 weeks, and the Weighted Arm Lift Test. Secondary outcomes were GNEM-FAS mobility, self-care, upper extremity function, Sit-to-Stand Test, 6-Minute Walk Test, and gastrointestinal side effects including upper abdominal pain and diarrhea.

Results:

The meta-analysis showed a statistically significant improvement in the UEC at 24 weeks in favor of the aceneuramic acid group (MD:  1.88, 95% CI: 0.40–3.35, p = 0.01) with no heterogeneity. Surprisingly, the 30 sec weighted arm lift test favored the placebo group (MD: -1.76 kg, 95% CI: -3.08: -0.44, p = 0.009) with no significant heterogeneity. No significant differences were observed in other primary or secondary outcomes, including Lower Extremity Composite, Knee Extensor strength, or functional mobility tests. Safety data indicated no significant increase in gastrointestinal side effects (upper abdominal pain and diarrhea).

Conclusions:

Aceneuramic acid appears to provide significant benefits in upper extremity function in patients with GNE myopathy at 24 weeks. However, its effects on lower extremity function and other mobility outcomes remain unclear. Further research is needed to confirm these findings and determine long-term efficacy and safety.

10.1212/WNL.0000000000212038
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