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1678 news items
Research
Brody’s disease: reducing diagnostic delays by identifying mowing in childhood
On 25/04/2024
As Brody’s disease is often diagnosed in adulthood, even though discomfort may have been present since childhood, a Dutch team has reviewed the observations of…
Research
AOC 1001 in DM1: positive data after one year of treatment in the MARINA trial
On 25/04/2024
The MARINA trial is a double-blind, placebo-controlled Phase I/II trial which evaluated AOC 1001 for six months in Steinert’s disease (or DM1). It was followed…
Research
A promising aldose reductase inhibitor in SORD-related neuropathy
On 24/04/2024
Identified in 2020, the SORD gene is involved in a relatively frequent form of axonal CMT (CMT 2) and distal hereditary motor neuropathy (dHMN). It…
Research
Chinese study highlights importance of cognitive impairment in myasthenia gravis
On 24/04/2024
The existence of cognitive disorders in autoimmune myasthenia is still debated. Chinese researchers have investigated this question using a battery of tests: 41 patients with…
Research
MYOLOGY 2024: focus on the institute speakers
On 22/04/2024
The 8th International Congress of Myology will be held in Paris from 22 to 25 April 2024. Here are the eight themes that experts from…
Research
Initial results of the “Adult polyglucosan disease” register
On 19/04/2024
The Columbia University team publishes data collected since 2014 in the Columbia University APBD Registry (CAP ) and filled in by patients with adult polyglucosan…
Research
Vamorolone confirms its efficacy over one year in DMD without limiting growth
On 17/04/2024
In 2022 , the first results of a 6-month double-blind trial of vamorolone (Agamree®) versus placebo or prednisone were published. This synthetic steroid has been…
Research
DMD: Commercial go-ahead for givinostat (Duvyzat™) in the USA
On 15/04/2024
Givinostat, a drug developed by Italfarmaco for Duchenne and Becker muscular dystrophies, is a histone deacetylase (HDAC) inhibitor. On 21 March 2024, it was granted…
Research
A probable founder effect in a hereditary neuropathy with cyclic vomiting
On 11/04/2024
French clinicians and biologists report the observations of three families of North African origin who were diagnosed with deficiency of SMVT, a sodium-dependent multi-vitamin transporter:…
Research
GDF5, a “rejuvenating” treatment for age-related neuromuscular deficiency in mice
On 09/04/2024
A study conducted by the MOOVE* research team headed by France Pietri-Rouxel, in collaboration with several teams from the Institute and Sorbonne University, has just…
Events
Researchers from the institute at the IDMC14 conference to present their work
On 09/04/2024
Researchers and clinicians from the Institute of Myology will be present at the 14th International Myotonic Dystrophy Consortium Meeting (IDMC14) which takes place from 9…
Events
Clinicians and researchers from the Institute at the Journées de neurologie de langue française
On 08/04/2024
The Journées de neurologie de langue française will be held in Paris from 9 to 12 April 2024. The main aim of these days is…
Research
Atamyo Therapeutics obtains authorisation to launch a gene therapy clinical trial in limb-girdle muscular dystrophy linked to SGCG
On 08/04/2024
Following several proofs of concept, Atamyo Therapeutics, a spin-off from Geenethon, has obtained authorisation to start a new gene therapy trial in patients suffering from…
Research
Prenatal diagnosis is sometimes complicated by the results of high-throughput sequencing.
On 08/04/2024
A team from Dijon reports on a complex situation involving a consanguineous couple whose foetus carried adevelopmental anomaly known as cystic hygroma: a whole exome…
Research
An ultra-rare myopathy, but important to recognise because it can be treated
On 05/04/2024
Clinicians in London report the observation of a 27-year-old patient diagnosed with arginine-glycine amidino-transferase (AGAT) deficiency myopathy: the clinical picture combined myopathy and cognitive difficulties…
Research
Failure of the ryanodine receptor causes myocardial senescence and fibrosis in DMD
On 04/04/2024
Researchers in the south of France have studied the determinants of the degeneration and fibrosis observed in cardiomyopathy linked to Duchenne muscular dystrophy (DMD) in…
Research
A new method for assessing treatment efficacy in Pompe disease
On 03/04/2024
To assess the efficacy of enzyme replacement therapy, Dutch researchers and clinicians are proposing a new methodology: the clinical and paraclinical data of 102 patients…
Research
Neonatal screening for Pompe disease: a compilation of all existing data
On 02/04/2024
Two American researchers have compiled data from the literature on newborn screening for Pompe disease worldwide: 29 programmes are in place and operational in eight…
Events
Experts from the institute will present their research findings at Myology 2024
On 02/04/2024
Researchers and clinicians from the Institute of Myology will be presenting their findings at the next international myology congress, Myology 2024, organized by AFM-Téléthon from…
Research
Natural history of X-linked myopathy with excessive autophagy
On 02/04/2024
X-linked myopathy with excessive autophagy (XMEA) is a little-known disease linked to the VMA21 gene. It leads to autophagy failure with progressive vacuolation and atrophy…