Blog Archives
Physical training pays off in myotubular myopathy
A 23-year-old Dutch man with a moderate form of X-linked mytotubular myopathy describes his experience of physical training and its benefits in a publication: inclusion in the Nathis-CNM natural history study in 2015 and the prospect of entering the Unite-CNM clinical trial triggered his decision to improve his fitness and stick to it; the introduction … [Read more]
Some of the autoantibodies associated with myositis have prognostic value in juvenile forms
British researchers studied the serum levels and distribution of myositis-associated autoantibodies (MAAs) in 551 patients previously diagnosed with juvenile myositis: 36% of patients had at least one positive MAA, and 13% had at least two, among the positives, there was a higher prevalence of overlapping myositis, as well as Raynaud’s syndrome and interstitial lung disease, … [Read more]
Contrasting trends in anti-MDA5 dermatomyositis
Japanese researchers have studied data from 154 patients diagnosed with dermatomyositis (DM), with the presence of autoantibodies directed against the MDA5 (menaloma differentiation-associated gene) antigen: in these forms, muscular involvement is generally modest, unlike interstitial lung disease, which often takes center stage, mortality is particularly high in the medium term (26% of cases studied), although … [Read more]
Treatment of adult patients with SMA decided in MDTs
In SMA, as the efficacy data collected on nusinersen and risdiplam have mainly concerned the pediatric population, there is as yet no consensus on treating adults. Between October 2020 and September 2021, the choice of treating adult patients with one of these two products was studied at several multidisciplinary team meetings (MDTs): the discussions involved … [Read more]
Gene therapy shows encouraging results in humans for limb-girdle muscular dystrophy linked to SGCB
An ongoing clinical trial sponsored by Sarepta Therapeutics is investigating the safety and efficacy of SRP-9003 (rAAVrh74. MHCK7.hSGCB vector) following systemic infusion in six patients with SGCB-related limb-girdle muscular dystrophy (LGMD R4). Two years after administration of a minimum dose of 1.85 x 1013 vg/kg, analyses showed : the product was fairly well tolerated, with … [Read more]
A Marie Sklodowska-Curie European fellowship for Gabriele Ordazzo, postdoc researcher at the Institute
The European Commission has awarded Gabriele Ordazzo, a postdoctoral researcher supervised by Mario Gomes-Pereira (Repeat Expansions & Myotonic Dystrophy team – Gourdon Group), with the prestigious Marie Skłodowska-Curie Actions (MSCA) Individual Fellowship. He follows in the footsteps of Fiorella Grandi supervised by Piera Smeriglio (Biotherapies for motor neuron disorders team), who has been awarded the … [Read more]
Titin fragments as biomarkers for DMD
In order to identify a reliable biomarker for Duchenne muscular dystrophy (DMD), researchers associated with the Solid Biosciences laboratory have analysed the biological data of patients who took part in an IGNITE gene therapy trial with a microdystrophin : urine samples were taken at D0, M6 and M12 from participants with DMD in this trial, … [Read more]
An Iranian cohort of patients with muscular lipidosis
Iranian researchers report the clinical and biological data from a series of nine patients diagnosed with PNPLA2 gene-related muscle lipidosis: the nine patients came from seven different Iranian families, most of them consanguineous, the clinical picture consisted of an initially proximal muscle deficit in young adults, with associated cardiomyopathy in two of the nine cases, … [Read more]
RhoA protein may be an essential regulator of myoblast fusion
Researchers in Paris have identified the important role played by RhoA, a member of the Rho-type GTPase superfamily already extensively studied in the field of cancer, in several properties and functions of muscle satellite cells: two functions in particular were studied: muscle stem cell fusion and muscle hypertrophy, this work, carried out on transgenic mouse … [Read more]
A very rare form of Charcot-Marie-Tooth disease found in Africa
In line with previous work on the prevalence of Charcot-Marie-Tooth (CMT) disease on the African continent, Malian and South African researchers report the observation of a very rare form of CMT: for the first time, the same variant of the CADM3 gene (Tyr172Cys) has been identified both in a Malian family and in a patient … [Read more]
