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1385 news items
Research
The existence of variant triplets within the CTG repeats alleviates the severity of Steinert’s disease without affecting the effectiveness of cognitive behavioral therapy
On 31/08/2021
A genetic analysis carried out in 250 people with Steinert’s disease (DM1) and who participated in the OPTIMISTIC study showed that 21 of them had…
Research
Beneficial effect of gene therapy in model mice of LGMD R1 linked to calpain
On 31/08/2021
Six gene therapy programs are under development in girdle myopathies (LGMD) at Sarepta Therapeutics, in collaboration with the Nationwide Chidren’s Hospital (Columbus, USA). They concern…
Research
A population study quantifies the weight of genes in the occurrence of myositis
On 30/08/2021
Inflammatory myopathies (or idiopathic myositis) seem to arise, like other autoimmune diseases, on a predisposing genetic background. To assess the weight of genes, a team…
Research
Duplications of the SMN1 gene are associated with certain pathologies of the motor neuron
On 25/08/2021
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…
Research
The first Solve-RD report confirms the benefit of an exceptional European research project focusing on rare diseases
On 23/08/2021
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…
Research
PXT3003 in CMT1A : the PREMIER clinical trial starts in France
On 19/08/2021
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…
Research
Myasthenia gravis: immunoglobulins as maintenance therapy?
On 12/08/2021
Polyvalent immunoglobulins (Ig) have been shown to be effective in treating exacerbations of myasthenia gravis (myasthenic seizure). The results of two retrospective studies, published in…
Research
A new mutation in one of the components of the complex IV of the respiratory chain responsible for MELAS syndrome
On 10/08/2021
MELAS syndrome is one of the mitochondrial diseases described mainly in adults. As its acronym suggests, it combines myopathy (M), encephalopathy (E), lactic acidosis (LA)…
Research
Casimersen examined in a phase I/II trial in limited ambulatory or non-ambulatory DMD patients is well tolerated and eliminated over time
On 06/08/2021
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…
Research
DMC related to LMNA: on a large-scale retrospective natural history
On 05/08/2021
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…
Research
Decrease the time from diagnosis to the start of the treatment with Treatabolome
On 23/07/2021
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…
Research
Dermatomyositis and polymyositis may be associated with a higher risk of cardiovascular complications
On 21/07/2021
Idiopathic inflammatory myopathy is a heterogeneous group of muscle disorders which, in short, consist of four main groups: dermatomyositis, polymyositis (or antisynthetase syndrome), inclusion body…
Research
The last congress of the FSHD Society took place on June 24 and 25, 2021
On 16/07/2021
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…
Events
DMD: start at I-Motion of trials with pamrevlumab in ambulatory and non-ambulatory patients
On 13/07/2021
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…
Research
Muscle imaging is useful in the diagnosis and follow-up of most autoimmune myositis
On 13/07/2021
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)…
Research
High phenotypic diversity in patients with CMT linked to a mutation in the MPZ gene?
On 13/07/2021
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…
Research
Clinical and genetic study of 1,000 patients with CIDP reveals 35 cases of misdiagnosed CMT
On 13/07/2021
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) diagnosis is mainly based on the clinical examination and the electromyogram. CIDP is sometimes confused with another demyelinating neuropathy, type…
Research
Hydrophilic statins as toxic to muscle as lipophils
On 12/07/2021
The iatrogenic muscle risk (myalgia, myositis, rhabdomyolysis) associated with statins has been known for a long time. In various clinical trials, 1.5% to 5% of…
Research
Treatment with eteplirsen over a 2-year period shows a beneficial action on walking and breathing in patients with DMD: results of the phase III PROMOVI trial
On 09/07/2021
Eteplirsen (EXONDYS51®) is the first antisense oligonucleotide to be marketed, by Sarepta Therapeutics, in Duchenne muscular dystrophy, targeting the exon 51 skipping of the DMD…
Research
Nusinersen perceptions and expectations in German adults with SMA
On 09/07/2021
SMA is a degenerative disease of the second motor neuron. Four subtypes exist (from I to IV) depending on the onset of the paralysis and…