Trial reportJournal of neuromuscular diseases2023
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.
Trial report in Journal of neuromuscular diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Nutritional interventions and dietary supplements in muscle diseases: a systematic review.Rheumatology (Oxford, England) · 2026Pooled it
- Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.Journal of neuromuscular diseases · 2025Pooled it
- Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.Orphanet journal of rare diseases · 2023Trial
- Preclinical assessment of GNEFuture science OA · 2026Article
- Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.International journal of molecular sciences · 2026Review
- Biosynthetic and genetic pathways related to sialic acid metabolism.The Journal of biological chemistry · 2026Review
- Defective autophagy in GNE myopathy is rescued by inhibition of noncanonical Akt-mTORC1 activation across multiple isogenic models.Experimental & molecular medicine · 2026Article
- Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance.Molecular medicine (Cambridge, Mass.) · 2025Article
- Molecular genetics and therapeutic development for GNE myopathy.Journal of human genetics · 2025Review
- Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances.Annals of Indian Academy of Neurology · 2025Article
- Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.Neurology. Genetics · 2024Article
- Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.Journal of neurology · 2024Article
- Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.Journal of neuromuscular diseases · 2024Article
- Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.Journal of neuromuscular diseases · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGNE myopathy is an ultra-rare muscle disease characterized by a reduction in the synthesis of sialic acid derived from pathogenic variants in the GNE gene. No treatment has been established so far.
objectiveWe evaluated the safety and efficacy of oral supplementation of aceneuramic acid in patients with GNE myopathy.
methodsThis multicenter, placebo-controlled, double-blind study comprised genetically confirmed GNE myopathy patients in Japan who were randomly assigned into treatment groups of sialic acid-extended release (SA-ER) tablets (6 g/day for 48 weeks) or placebo groups (4:1). The primary endpoint of effectiveness was set as the change in total upper limb muscle strength (upper extremity composite [UEC] score) from the start of administration to the final evaluation time point.
resultsAmong the 20 enrolled patients (SA-ER group, 16; placebo group, 4), 19 completed this 48-week study. The mean value of change in UEC score (95% confidence interval [CI]) at 48 weeks was -0.1 kg (-2.1 to 2.0) in the SA-ER group and -5.1 kg (-10.4 to 0.3) in the placebo group. The least squares mean difference (95% CI) between the groups in the covariance analysis was 4.8 kg (-0.3 to 9.9; P = 0.0635). The change in UEC score at 48 weeks was significantly higher in the SA-ER group compared with the placebo group (P = 0.0013) in the generalized estimating equation test repeated measurement analysis. In one patient in the SA-ER group, who was found to be pregnant 2 weeks after drug administration fetal death with tangled umbilical cord occurred at 13 weeks after the discontinuation of treatment. No other serious adverse effects were observed.
conclusionsThe present study indicates that oral administration of SA-ER tablets is effective and safe in patients with GNE myopathy in Japan.
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