Blog Archives
Kennedy’s disease: targeting LSD1 and PRMT6 overexpression attenuates mutated androgen receptor toxicity without worsening androgen deficiency
Lysine-specific demethylase 1 (LSD1) and protein arginine N-methyltransferase 6 (PRMT6) are co-regulators of the androgen receptor. Overexpressed by androgens specifically in skeletal muscle of mice and humans with Kennedy’s disease (SBMA), these molecules synergistically activate the androgen receptor, this activation being enhanced by polyQ expansions. Pharmacological silencing of LSD1 and PRMT6 attenuates the activation of … [Read more]
Pregnancy and neuromuscular diseases: survey results from 300 women
An international study published in December 2022 analysed the pregnancy and childbirth experiences of women with neuromuscular diseases, collected via online questionnaires: 721 pregnancies were reported by 305 women; 26 neuromuscular diseases were involved, with 50% limb-girdle muscular dystrophy and 42% FSH; 21% of pregnancies were terminated by miscarriage and 8% were terminated voluntarily; Of … [Read more]
Beneficial effects of gene therapy on the heart of a new mouse model of PGM1-associated congenital glycosylation defect
An international team investigated the utility of gene therapy for the treatment of dilated cardiomyopathy (DCM) in PGM1-associated congenital glycosylation disorder (PGM1-CDG). Four of the six patients examined for this study had DCM with significantly reduced left ventricular ejection fraction (10-45%) in three of them. The investigators developed a novel conditional PGM2 (ortholog of human … [Read more]
Pompe disease: encouraging results from the mini-COMET trial
The Mini-COMET study (NCT03019406) evaluated the efficacy and safety of avalglucosidase alfa (Nexviadyme) in patients with infantile-onset Pompe disease who had previously shown clinical deterioration or suboptimal response to alglucosidase alfa (Myozyme) : The study included 22 patients under the age of 18 years divided into three groups. Patients who showed clinical deterioration were assigned … [Read more]
Osteonecrosis: the prerogative of juvenile dermatomyositis with anti-MDA5 antibodies?
The records of 71 young people with juvenile dermatomyositis followed for at least two years by the Paris Reference Center for Rare Pediatric Rheumatism and Autoimmune Systemic Diseases (RAISE) were retrospectively analyzed: five had hip, knee, and/or ankle pain associated with multiple foci of osteonecrosis in four and unilateral femoral head osteonecrosis in the fifth … [Read more]
New results from the SUNFISH and JEWELFISH clinical trials with risdiplam in SMA
In two publications released in February 2023, the results of two clinical trials evaluating risdiplam (Evrysdi) in SMA type II and III (SUNFISH trial) and in participants previously treated with nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), or olesoxime (JEWELFISH trial) show: for the SUNFISH trial: gains in motor function achieved after 12 months of treatment were … [Read more]
ERN EURO-NMD webinar, Apr. 6th – Prof. Werner Stenzel (Germany)
Inflammatory Myopathies 6th April 2023 – 4pmParis Time Prof. Werner Stenzel (Charité – Universitätsmedizin Berlin, Germany) Registration: https://zoom.us/webinar/register/WN_sdHfvA2tSei3Nx_MvL-_qQ Organised by EURO-NMD in collaboration with ERN-RND
Daratumumab, an anti-CD38 effective in two cases of severe refractory myositis
The first case concerns a 27-year-old man in Canada with autoimmune necrotizing myopathy with anti-PRS: after 8 months of conventional treatment (glucocorticoids, methotraxate, IV immunoglobulins, rituximab) with no effect and 6 months in intensive care unit, the initiation of daratumumab (16mg/kg/week) led to a clear improvement in four weeks, with discharge from the intensive care … [Read more]
Results of a longitudinal study on the effectiveness of corticosteroid therapy in the non-ambulatory phase of DMD
A longitudinal study published in December 2022 compared disease progression after the loss of walking in 86 boys with DMD with or without steroid therapy (prednisone or deflazacort). Participants aged 3-18 years had lost their ability to walk either before or during the study. Muscle, lung and heart function were assessed every six months for … [Read more]
The advantages of quantitative magnetic resonance imaging in Becker muscular dystrophy
The natural history of Becker’s muscular dystrophy (BMD) is imperfectly known. In order to assess its evolution and with a view to therapeutic trials, researchers from the Institute of Myology (Paris) studied a cohort of BMD patients using quantitative MRI: 28 BMD patients and 19 healthy volunteers were included in the study; the extracellular volume … [Read more]
