Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2021
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02346461 (An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy), which is not on this map. Cited by 32 papers, 1 of them a synthesis 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.
An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 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
- Impact of Food on the Oral Absorption of N-Acetyl-D-Mannosamine in Healthy Men and Women.Clinical pharmacology in drug development · 2024Trial
- 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
- Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy.Muscle & nerve · 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
- Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies.Kidney international reports · 2026Article
- Absolute bioavailability and intravenous pharmacokinetics of N-acetyl-D-mannosamine in humans.British journal of clinical pharmacology · 2026Article
- Simultaneous ManNAc and Neu5Ac Quantification in Human Sera by LC-MS/MS.International journal of molecular sciences · 2026Article
- Article
- Microbial Production ofFoods (Basel, Switzerland) · 2025Review
- Molecular genetics and therapeutic development for GNE myopathy.Journal of human genetics · 2025Review
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Temporal dynamics of IgG-mediated immunometabolic dysfunction: from acute obesity to chronic aging.Frontiers in immunology · 2025Review
- De novo engineering of programmable and multi-functional biomolecular condensates for controlled biosynthesis.Nature communications · 2024Article
- RecessiveGenes · 2024Article
- Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.Blood advances · 2024Article
- Understanding pathophysiology of GNE myopathy and current progress towards drug development.Journal of biosciences · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 5 institutions in 1 country.
Funding
Abstract
purposeTo evaluate the safety and efficacy of N-acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the rate-limiting enzyme in N-acetylneuraminic acid (Neu5Ac) biosynthesis.
methodsWe conducted an open-label, phase 2, single-center (NIH, USA) study to evaluate oral ManNAc in 12 patients with GNE myopathy (ClinicalTrials.gov NCT02346461). Primary endpoints were safety and biochemical efficacy as determined by change in plasma Neu5Ac and sarcolemmal sialylation. Clinical efficacy was evaluated using secondary outcome measures as part of study extensions, and a disease progression model (GNE-DPM) was tested as an efficacy analysis method.
resultsMost drug-related adverse events were gastrointestinal, and there were no serious adverse events. Increased plasma Neu5Ac (+2,159 nmol/L, p < 0.0001) and sarcolemmal sialylation (p = 0.0090) were observed at day 90 compared to baseline. A slower rate of decline was observed for upper extremity strength (p = 0.0139), lower extremity strength (p = 0.0006), and the Adult Myopathy Assessment Tool (p = 0.0453), compared to natural history. Decreased disease progression was estimated at 12 (γ = 0.61 [95% CI: 0.09, 1.27]) and 18 months (γ = 0.55 [95% CI: 0.12, 1.02]) using the GNE-DPM.
conclusionManNAc showed long-term safety, biochemical efficacy consistent with the intended mechanism of action, and preliminary evidence clinical efficacy in patients with GNE myopathy.
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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.