Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
Claudia Nuñez-PeraltaJorge Alonso-PérezJaume LlaugerSonia SegoviaPaula MontesinosIzaskun BelmonteIrene PedrosaElena MontielAlicia Alonso-JiménezJavier Sánchez-GonzálezAntonio Martínez-NogueraIsabel IllaJordi Díaz-ManeraPublished in: Journal of cachexia, sarcopenia and muscle (2020)
Our study identifies that skeletal muscle fat fraction continues to increase in patients with LOPD despite the treatment with enzymatic replacement therapy. These results suggest that the process of muscle degeneration is not stopped by the treatment and could impact muscle function over the years. Hereby, we show that fat fraction along with muscle function tests can be considered a good outcome measures for clinical trials in LOPD patients.
Keyphrases
- skeletal muscle
- late onset
- replacement therapy
- magnetic resonance imaging
- adipose tissue
- clinical trial
- early onset
- end stage renal disease
- insulin resistance
- smoking cessation
- newly diagnosed
- fatty acid
- computed tomography
- chronic kidney disease
- type diabetes
- randomized controlled trial
- magnetic resonance
- prognostic factors
- nitric oxide
- peritoneal dialysis
- dna methylation
- metabolic syndrome
- combination therapy
- contrast enhanced
- double blind
- phase ii