Myology research highlights
RSS feedUsing patient fibroblasts to understand inclusion body myositis
A Spanish team compared the fibroblasts of 14 patients with inclusion body myositis (IBM) to 12 healthy controls. The IBM fibroblasts were found to have: abnormal expression of 778 genes related to inflammation, mitochondria, cell cycle regulation and metabolism; an expression pattern differing according to whether the disease is stabilised or in active phase; cytokine … [Read more]
Intravenous cyclophosphamide is more effective than other immunosuppressive drugs in interstitial lung disease associated with myositis
A comparison of the efficacy of cyclophosphamide as first-line therapy versus other immunosuppressive therapies (azathioprine, glucocorticoids, mycophenolate mofetil, calcineurin inhibitors, rituximab) was performed in 47 patients with interstitial lung disease associated with myositis (excluding anti-MDA5 dermatomyositis): 22 were on cyclophosphamide, 25 on other immunosuppressive therapy; 64% of the participants on cyclophosphamide (compared to 32% for … [Read more]
Two unusual phenotypes reported in inclusion body myositis
Inclusion body myositis (IBM) is an autoimmune myopathy characterised mainly by damage to the flexor digitorum and quadriceps muscles occurring after the age of fifty. English clinicians point out the existence of two unusual clinical phenotypes. In the first, the onset was surprisingly early, around the age of 30 (in one man and one woman) … [Read more]
Phase 2 trial concludes in favour of subcutaneous administration of immunoglobulins in myasthenia gravis
The background treatment of myasthenia gravis (MG) requires, in some cases, the administration of polyvalent immunoglobulins. US clinicians report the results of a multicentre phase 2 trial comparing the efficacy and safety of subcutaneous versus conventional intravenous immunoglobulin: 23 patients with myasthenia with autoantibodies to the acetylcholine receptor participated in the study, the trial was … [Read more]
Anti-CD19 CAR-T cells effective in refractory anti-Jo1 antisynthetase syndrome
A German team reports the successful treatment of a patient with refractory anti-Jo1-associated antisynthetase syndrome with CAR-T cells. After an initial transient worsening (myalgia, CPK 13,600 U/L, fever for 3 days), the 41-year-old man’s condition quickly improved. Three months after the injection of CAR-T cells: lesions had disappeared on thigh muscle MRI; Oxygen weaning was … [Read more]
Publication of results from the IONIS-DMPKRx trial in DM1
IONIS-DMPKRx, also known as baliforsen is an antisense oligonucleotide developed by IONIS Pharmaceuticals in DM1. It was tested in a Phase I/II clinical trial in 48 patients between 2014 and 2016. The results were published in the Lancet Neurology journal in March 2023, confirming the initial results announced by press release in 2017: The product … [Read more]
Low-carbohydrate ketogenic diet and McArdle’s disease: results of an international survey
An international survey of 183 people with McArdle’s disease in 18 countries, including France, was conducted to gather their experiences with the low-carbohydrate, high-fat ketogenic diet. The results show that: one third of the participants have tried this diet, among them, nearly 90% reported positive effects on McArdle’s disease symptoms (exercise intolerance, muscle pain and … [Read more]
Differentiated complement activation profiles in myasthenia gravis
German and English researchers studied the profile of complement activation in patients with myasthenia gravis, both seropositive and seronegative, and with and without standard immunosuppressive therapy. In the cohort of acetylcholine receptor-positive patients (AChR-Ab+), complement activation was confirmed in contrast to the other cohorts studied (MuSK+ patients, HIV-negative patients, control subjects) Some of this activation … [Read more]
A plea for less invasive muscle biopsy techniques
Australian researchers reviewed the medical literature on the practice of muscle biopsy. In particular, their interest and performance at the diagnostic level were studied, as well as the rate of complications inherent to this invasive procedure. 66 published studies were included in the review. 60% of the studies reported general anesthesia prior to open muscle … [Read more]
Long-term maintenance of normalized cardiac function on ERT in infantile Pompe disease
Analysis of echocardiograms of 27 patients with infantile Pompe disease on enzyme replacement therapy (ERT) obtained during a median follow-up of 9.9 years (maximum 22 years) shows: a normalization of the left ventricular mass index after 1 year of ERT; the mean shortening fraction was within normal limits before ERT and remained so until 22 … [Read more]
