What is the clinical evidence from this study?

Study design: Review. Population: GNE myopathy. Intervention: Sialic acid supplementation and other therapies.

What does this research mean for the field?

GNE myopathy is an ultrarare autosomal recessive muscle disease caused by mutations in the GNE gene that disrupt sialic acid synthesis, characterized by progressive weakness sparing the quadriceps and persistent unmet therapeutic challenges. Novelty: ClaimNovelty.SYNTHESIS. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To review the historical background, genetic etiology, clinical and histopathological characteristics, and therapeutic trials for the ultrarare neuromuscular condition GNE myopathy.

October 18, 2022Frontiers in NeurologyOpen Access

GNE myopathy: History, etiology, and treatment trials

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Key result

Ongoing trials for ultrarare GNE myopathy focus on sialic acid supplementation to address synthesis defects.

Why the study?

To review the history, clinical aspects, prior treatment trials, challenges, and unmet needs related to GNE myopathy.

Design

Review

Authors

JMJeffrey A. MullenUniversity of California, Irvine KAKhalid F. AlrasheedKing Saud University TMTahseen MozaffarUniversity of California, Irvine

Discussion

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Implication

May guide trial enrollment in sialic acid supplementation; leaves open efficacy, safety, and practice change.

Key Points

To review the historical background, genetic etiology, clinical and histopathological characteristics, and therapeutic trials for the ultrarare neuromuscular condition GNE myopathy.
Synthesized literature on the clinical manifestations, genetic mechanisms, and muscle biopsy pathology of GNE myopathy.
Evaluated prior interventional and metabolic treatment trials addressing sialic acid pathway dysfunction.
GNE myopathy is inherited in an autosomal recessive pattern via mutations in the GNE gene, disrupting sialic acid biosynthesis.
Clinical presentation features adult-onset weakness and atrophy primarily in the tibialis anterior with typical sparing of quadriceps, alongside rimmed vacuoles and atrophic fibers lacking inflammation on biopsy.
Prior clinical trials targeting the sialic acid pathway encountered substantial therapeutic challenges, leaving critical unmet management needs.

Structured PICO

Population

Patients with GNE myopathy

This review summarizes the history, clinical aspects, and prior treatment trials for GNE myopathy, highlighting challenges and unmet needs.

Limitations

Lack of phenotypically appropriate animal model
Reliable antibodies to GNE protein not available
Doubts about whether hyposialylation is the causative mechanism
Lack of reliable biomarkers
Resolution of common and difficult to interpret variants of unknown significance
Need for better assays to measure GNE enzymatic function

Cite This Study

Mullen et al. (2022) conducted a review in GNE myopathy. Sialic acid supplementation and other therapies was evaluated. GNE myopathy is an ultrarare autosomal recessive muscle disease caused by mutations in the GNE gene affecting sialic acid synthesis, with ongoing therapeutic trials focusing on sialic acid supplementation.

synapsesocial.com/papers/6aa8deb9e4e7b17765d917a0 https://doi.org/10.3389/fneur.2022.1002310

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GNE myopathy: History, etiology, and treatment trials

Discussion

Member takes

Implication

Key Points

Structured PICO

Limitations

Cite This Study

GNE myopathy: History, etiology, and treatment trials

Discussion

Member takes

Implication

Key Points

Structured PICO

Limitations

Cite This Study

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