Myology research highlights
RSS feedThe first Solve-RD report confirms the benefit of an exceptional European research project focusing on rare diseases
More than 300 experts from 15 countries, including clinical practitioners, geneticists, patient representatives and researchers, are taking part in the Solve-RD research project, funded by European Union grants over 2018-2022. The Myology Research Centre at the Institute of Myology (team led by Gisèle Bonne) and the ERN-Euro-NMD healthcare network are also contributing to this project. In June … [Read more]
Duplications of the SMN1 gene are associated with certain pathologies of the motor neuron
The SMN locus, located in humans in the 5q region, is the site of relative genomic copy number instability of two paralogous genes called SMN1 and SMN2. Deletion, balanced duplication or gene conversion are relatively frequent mutational events in this chromosomal region. While homozygous deletions of the SMN1 gene are well known to give rise … [Read more]
PXT3003 in CMT1A : the PREMIER clinical trial starts in France
The first French investigation center for the PREMIER trial has just opened: this is the CHU de la Timone in Marseille, which has just recruited the first European participant. Other French centers should also participate in this international phase III trial which started last March in the United States and will take place in Europe, … [Read more]
Casimersen examined in a phase I/II trial in limited ambulatory or non-ambulatory DMD patients is well tolerated and eliminated over time
Casimersen (SRP-4045, Amondys45), an antisense oligonucleotide targeting exon 45 skipping of the DMD gene, is one of the exon skipping agents developed in Duchenne muscular dystrophy (DMD) by Sarepta Therapeutics. It obtained conditional marketing authorisation (MA) in the United States in February 2021. A phase I/II US trial studied this agent in limited ambulatory or non-ambulatory … [Read more]
DMC related to LMNA: on a large-scale retrospective natural history
A retrospective international study coordinated by a team from the Myology Centre for Research at the Institute of Myology was conducted to describe the natural history of an early-onset form of laminopathy: congenital muscular dystrophy linked to the LMNA gene. Thus, data from 151 patients with laminopathy who presented with muscle symptoms that appeared before … [Read more]
The last congress of the FSHD Society took place on June 24 and 25, 2021
Gathered online, facio-scapulo-humeral myopathy (FSH) experts from around the world shared and updated on the latest medical-scientific advances, both in the field of research and clinical trials. The various presentations provided an opportunity to discuss in particular: the development of a new FSH mouse model: it can express very low levels of DUX4 under … [Read more]
Decrease the time from diagnosis to the start of the treatment with Treatabolome
The creation of an open platform drawing up an inventory of all existing treatments for rare genetic diseases, including neuromuscular diseases, is one of the objectives of the European Solve-RD project, which fights diagnostic delay. This platform, better known as the “Treatabolome”, should give clinicians better visibility and knowledge of the treatments available depending on … [Read more]
DMD: start at I-Motion of trials with pamrevlumab in ambulatory and non-ambulatory patients
I-Motion is recruiting patients with Duchenne muscular dystrophy to participate in two pharmacological trials designed to test an antifibrotic monoclonal antibody, pamrevlumab (or FG-3019), developed by FibroGen. The objective of these phase III trials is to assess the tolerance, safety and efficacy on the upper limbs, respiratory and cardiac functions of pamrevlumab administered by intravenous … [Read more]
Muscle imaging is useful in the diagnosis and follow-up of most autoimmune myositis
Idiopathic inflammatory myopathies constitute a heterogeneous group of muscular diseases composed, basically, of four major groups: dermatomyositis, overlapping myositis (including anti-synthetase syndrome), inclusion myositis (IBM) and self-necrotizing myopathies. immune. Their diagnosis is based, according to recent international recommendations, on muscle biopsy data and specific auto-antibody assays (MSA for myositis specific auto-antibodies). In an article published … [Read more]
High phenotypic diversity in patients with CMT linked to a mutation in the MPZ gene?
Hereditary sensory-motor neuropathies type Charcot-Marie-Tooth (or CMT) are clinically and genetically heterogeneous pathologies. Quite common in the general population, they result in a motor deficit of varying severity and scalability in the extremities of the limbs, associated with sensory disorders rarely in the foreground. Almost 110 genes, inherited on autosomal dominant or recessive or X-linked … [Read more]
