ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2018
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04231266 (A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects With GNE Myopathy), which is not on this map. Cited by 54 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects With GNE Myopathy
Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.Journal of neuromuscular diseases · 2025Pooled it
- Alternative Dosing Strategies to Enhance the Absorption of N-Acetyl-D-Mannosamine Monohydrate (ManNAc) in Healthy Adult Males.Clinical drug investigation · 2026Trial
- Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study.Molecular genetics and metabolism reports · 2026Article
- Modulating the sialic acid content of endothelial cells affects their adhesion and barrier permeability.Scientific reports · 2026Article
- The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review.Journal of clinical medicine · 2026Review
- Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.International journal of molecular sciences · 2026Review
- A model of free sialic acid storage disorder reveals hypomyelinating leukodystrophy and Purkinje cell degeneration.Disease models & mechanisms · 2026Article
- Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking.Biomolecules · 2026Article
- Simultaneous ManNAc and Neu5Ac Quantification in Human Sera by LC-MS/MS.International journal of molecular sciences · 2026Article
- Molecular genetics and therapeutic development for GNE myopathy.Journal of human genetics · 2025Review
- GNE myopathy with premature ovarian failure: Case report and review of the literature.Molecular genetics and metabolism reports · 2025Article
- Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances.Annals of Indian Academy of Neurology · 2025Article
- A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series.Journal of medical case reports · 2025Article
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset.Internal medicine (Tokyo, Japan) · 2025Article
- Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.Neurology. Genetics · 2024Article
- Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.Molecules (Basel, Switzerland) · 2024Article
- High-throughput assays to assess variant effects on disease.Disease models & mechanisms · 2024Article
- RecessiveGenes · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. The pathophysiology of the disease is not entirely understood, but hyposialylation of muscle glycans is thought to play an essential role. The typical presentation is bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood. The disease slowly progresses over the next decades to involve skeletal muscles throughout the body, with relative sparing of the quadriceps until late stages of the disease. The diagnosis of GNE myopathy should be considered in young adults presenting with bilateral foot drop. Histopathologic findings on muscle biopsies include fiber size variation, atrophic fibers, lack of inflammation, and the characteristic "rimmed" vacuoles on modified Gomori trichome staining. The diagnosis is confirmed by the presence of pathogenic (mostly missense) mutations in both alleles of the GNE gene. Although there is no approved therapy for this disease, preclinical and clinical studies of several potential therapies are underway, including substrate replacement and gene therapy-based strategies. However, developing therapies for GNE myopathy is complicated by several factors, including the rare incidence of disease, limited preclinical models, lack of reliable biomarkers, and slow disease progression.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.