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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]

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]

Mitochondrial abnormalities are at the core of the cardiac damage observed in desminopathies

French researchers, supported by AFM-Téléthon, have been investigating the pathophysiological mechanisms behind the cardiopathies frequently observed in primary desminopathies, the most common form of myofibrillar myopathy: cardiomyocytes derived from induced pluripotent stem cells with the DESE439K mutation were used as a model, Their abnormalities were compared with those observed in cardiac tissue samples obtained from … [Read more]

New failure of anti-myostatin therapy in DMD

The investigators who conducted three clinical trials to test the efficacy and safety of taldefgrobep alpha (a myostatin-inhibiting molecule) in Duchenne muscular dystrophy (DMD) publish disappointing results in a single article: this was a phase I trial in healthy volunteers initiated back in 2014, followed by two phase Ib/II and II/III trials, all involving 180 … [Read more]

A new gene for Fazio-Londe syndrome?

Fazio-Londe syndrome (FL) and Brown-Vialetto-Van-Laere syndrome (BVVL), two very rare forms of bulbospinal muscular atrophy, have been considered until now as vitamin B2 transporter deficiencies, or riboflavinopathies. Iranian clinicians report an observation that tends to challenge this assumption: the patient, aged 25, had all the characteristics of a FL syndrome, with damage to pairs of … [Read more]

The rs1800628 A allele of TNF-α, a risk factor for myasthenia and a lack of rapid response to corticosteroids

A Chinese team studied TNF-α polymorphisms in 409 adults with autoimmune myasthenia and 487 controls. They found that : the rs1800628 A allele is significantly more frequent in people with myasthenia than in controls ; its frequency was also higher in the subgroups of early onset, myasthenia without thymoma, ocular onset and moderate severity; similarly, … [Read more]

An expert opinion on the (good) results of rozanolixizumab in myasthenia gravis

Three neurologists from Toronto’s Centre for Neuromuscular Diseases have analyzed the findings of various trials of rozanolixizumab (Rystiggo®), a monoclonal antibody directed against neonatal Fc receptors (anti-FcRn), in autoimmune myasthenia with anti-RACh or anti-MuSK antibodies. They conclude that : rozanolixizumab is effective, reducing pathogenic IgG by up to -78%, similar to plasma exchange; it also … [Read more]