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Different gut microbiota in dermatomyositis, especially with associated lung disease

A team from the University of California at Los Angeles (UCLA) publishes the results of a comparative study of the gut microbiota of 36 dermatomyositis patients and 26 controls. They show : a lower diversity of microbial flora in the dermatomyositis group, even more marked in the subgroup (n=12) of patients with pulmonary involvement (interstitial … [Read more]

A first positive assessment of intrathecal injections of nusinersen in children

Nusinersen (Spinraza®) is one of the innovative oligonucleotide-based therapies administered to patients with spinal muscular atrophy (SMA). The need to inject it intrathecally is sometimes technically difficult, especially in cases of spinal deformity. According to the multidisciplinary team at the Boston reference centre (USA), which treated 82 then 125 children with SMA in two phases, … [Read more]

Feedback from gene therapy in children with SMA over 8.5 kg

The therapeutic trials leading to the approval of the onasemnogene abeparvovec (Zolgensma) were conducted in children with SMA weighing less than 8.5 kg. In the framework of a compassionate access programme set up by Novartis for this innovative therapy (GMAP programme), this weight limit could be exceeded: 102 children have been treated since September 2021 … [Read more]

A more effective response to Zolgensma® in patients with poor response to Spinraza®?

An Italian real-life study conducted over 3 months in nine children with type I proximal spinal muscular atrophy (SMA) (1.7-48 months) on Zolgensma®, seven of them having received Spinraza® regularly, showed that : participants’ motor performance improved during the three months of follow-up, this improvement under Zolgensma® was not as great as the initial improvement … [Read more]

A functional scale to assess facial muscle involvement in FSH

Facial muscle involvement is part of the classic description of facioscapulohumeral myopathy (FSH), including deficits of the orbicularis of the lips and eyes. Dutch researchers have developed a new scale to assess the importance and functional impact of this condition: preparatory work with the patients themselves concerning their experience of the disease in this region … [Read more]

A South Korean natural history study of Kennedy syndrome

Kennedy syndrome or bulbospinal muscular atrophy affects mainly an adult population. Clinicians in South Korea have collected clinical and genetic data from 157 patients with this X-linked recessive neuromuscular disorder: with a median age of 56.9 years, their cohort is mainly composed of adults (33-83 years); a fine tremor of the fingers is very often … [Read more]

A rare but formidable complication of gene therapy in SMA

Gene therapy for spinal muscular atrophy (SMA) has involved some 40 French infants to date. The onesamnogene abeparvovec (Zolgensma®) was administered in a single intravenous injection. Clinicians in Paris and Nantes report the occurrence in one of them of thrombotic microangiopathy (TMA), a serious and potentially lethal complication directly related to the treatment: this child, … [Read more]

Longitudinal cardio-MRI follow-up shows early myocardial damage in DMD

Duchenne muscular dystrophy (DMD) is invariably accompanied by cardiomyopathy, the most frequent cause of death. An American team looked at the kinetics of cardiac involvement by longitudinally analysing cardio-MRI images of 59 children with DMD with a median age of 5.6 years. Compared to images from a control group of healthy subjects, it appears that … [Read more]

Results of the SPR1NT trial: Zolgensma under study in presymptomatic

This trial was conducted worldwide (but not in France) in 14 infants with presymptomatic SMN1-related proximal spinal muscular atrophy (SMA) with two copies of SMN2 over 18 months, and in 15 infants with three copies of SMN2 over 24 months. The data from these two follow-up periods show that : For the 14 infants with … [Read more]

The predisposition to myasthenia gravis is becoming better known

Myasthenia gravis is a multifactorial disease that is thought to be caused by environmental factors in people with a genetic predisposition. A new international study confirms this hypothesis. Based on genome-wide association study (GWAS) and pantranscriptomic (TWAS) explorations of 1,873 patients with myasthenia gravis with autoantibodies to acetylcholine receptors (AChR) and 36,370 disease-free individuals, this … [Read more]