Publications by authors named "O Pogoryelova"
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP--acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase)/-acetylmannosamine kinase (ManNAc kinase) gene (), clinically resulting in the loss of ambulation within 10-20 years from the onset of the initial symptoms. The disease's mechanism is poorly understood and non-invasive biomarkers are lacking, hindering effective therapy development.
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- Mitochondrial disease is a rare condition currently lacking approved treatments, with sonlicromanol being a promising candidate that modifies key metabolic and inflammatory pathways.
- A Phase 2b study was conducted to evaluate sonlicromanol's safety and efficacy in adults with a specific genetic mutation, involving both a randomized controlled trial (RCT) and a long-term extension study.
- While the primary endpoint of the RCT didn't show significant results, there were indications of improvement in certain cognitive and emotional assessments among patients who were more affected at baseline.
Introduction: GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing with preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10-20 years after onset.
View Article and Find Full Text PDFMolecular markers scalable for clinical use are critical for the development of effective treatments and the design of clinical trials. Here, we identify proteins in sera of patients and mouse models with Charcot-Marie-Tooth disease (CMT) with characteristics that make them suitable as biomarkers in clinical practice and therapeutic trials. We collected serum from mouse models of CMT1A (C61 het), CMT2D (GarsC201R, GarsP278KY), CMT1X (Gjb1-null), CMT2L (Hspb8K141N) and from CMT patients with genotypes including CMT1A (PMP22d), CMT2D (GARS), CMT2N (AARS) and other rare genetic forms of CMT.
View Article and Find Full Text PDFBackground: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness.
Objective: Investigate the clinical presentation and progression of GNE myopathy.
Methods: The GNE Myopathy Disease Monitoring Program was an international, prospective, observational study in subjects with GNE myopathy.