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Myology research highlights

Discover our weekly selection of scientific and medical publications in the field of myology and of neuromuscular diseases :  summary of each publication aimed at the general reader, highlighting the main points of the article and the authors’ conclusions
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19/12/2014 - Pfizer begins Phase II Duchenne Muscular Dystrophy trial

Pfizer is moving forward in the race to find treatments for Duchenne muscular dystrophy (DMD), announcing enrollment of the first patient in a Phase II trial testing the effect on the disease of an experimental monoclonal antibody. Pfizer's fast-track-designated orphan drug candidate will be evaluated for safety, tolerability and efficacy in boys ages 6 to 10 years diagnosed with DMD, regardless of genotype. The experimental drug, an anti-myostatin monoclonal antibody, blocks the activity of myostatin. That mechanism is believed to potentially increase muscle mass and function in boys with the wasting disease. The trial represents a different angle of attack on DMD treatment, as Prosensa, Sarepta Therapeutics and PTC Therapeutics continue to press forward with confirmatory studies and application plans for their remedies.

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19/12/2014 - Sporadic late-onset nemaline myopathy with MGUS: Long-term follow-up after melphalan and SCT

Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study qualitatively assessed the long-term treatment effect of high-dose melphalan (HDM) followed by autologous stem cell transplantation (SCT) in a series of 8 patients with SLONM-MGUS. The authors performed a retrospective case series study (n = 8) on the long-term (1-8 years) treatment effect of HDM followed by autologous SCT (HDM-SCT) on survival, muscle strength, and functional capacities. Seven patients showed a lasting moderate-good clinical response, 2 of them after the second HDM-SCT. All of them had a complete, a very good partial, or a partial hematologic response. One patient showed no clinical or hematologic response and died. This case series shows the positive effect of HDM-SCT in this rare disorder. Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. Age at onset, level and type of M protein (κ vs λ), and severity of muscle weakness were not associated with a specific outcome. This study provides Class IV evidence that for patients with SLONM-MGUS, HDM-SCT increases the probability of survival and functional improvement.

19/12/2014 - Clinical phenotype of Charcot-Marie-Tooth disease related to IGHMBP2

Using a combination of exome sequencing and linkage analysis, the authors of this study investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene were identified. Further sequencing revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations. IGHMBP2 mutations usually lead to spinal muscular atrophy with respiratory distress type 1 (SMARD1), where most infants die before 1 year of age. The individuals with CMT2 described here, have slowly progressive weakness, wasting and sensory loss, with an axonal neuropathy typical of CMT2, but no significant respiratory compromise. Segregating IGHMBP2 mutations in CMT2 were mainly loss-of-function nonsense in the 5' region of the gene in combination with a truncating frameshift, missense, or homozygous frameshift mutations in the last exon. Mutations in CMT2 were predicted to be less aggressive as compared to those in SMARD1, and fibroblast and lymphoblast studies indicate that the IGHMBP2 protein levels are significantly higher in CMT2 than SMARD1, but lower than controls, suggesting that the clinical phenotype differences are related to the IGHMBP2 protein levels.