Blog Archives
The Institute is recruiting a Clinical Research Physician for I-Motion
Are you a doctor registered with the French National Medical Association (Conseil National de l’Ordre des Médecins), a general practitioner or a specialist, and would like to develop your skills in clinical research? Come and join us at the the Institute of Myology! The Institute of Myology Located in Paris, at the heart of the … [Read more]
Initial results of the “Adult polyglucosan disease” register
The Columbia University team publishes data collected since 2014 in the Columbia University APBD Registry (CAP ) and filled in by patients with adult polyglucosan disease: out of 126 respondents, 96 met the inclusion criteria: being 18 years of age or older and presenting with a progressive triad of peripheral neuropathy, spasticity and neurologic bladder … [Read more]
Vamorolone confirms its efficacy over one year in DMD without limiting growth
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 approved in Europe since December 2023 for the treatment of Duchenne muscular dystrophy from the age of 4. New data from this trial, at one year, have just been published. … [Read more]
DMD: Commercial go-ahead for givinostat (Duvyzat™) in the USA
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 marketing authorisation in the United States by the FDA on the basis of the results of the EPIDYS phase III double-blind, placebo-controlled trial, which took place in France. The EPIDYS … [Read more]
A probable founder effect in a hereditary neuropathy with cyclic vomiting
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: the clinical picture was one of severe axon-demyelinating neuropathy, appearing early (in childhood) and often complicated by optic atrophy, and recurrent episodes of incoercible vomiting, suggesting dysautonomia, High-throughput sequencing in … [Read more]
GDF5, a “rejuvenating” treatment for age-related neuromuscular deficiency in mice
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 been published in Brain**. It focuses on the effects of chronic administration of a factor, GDF5, on age-related neuromuscular deficiency (sarcopenia) in mice. Sarcopenia is an age-related disease involving excessive … [Read more]
Researchers from the institute at the IDMC14 conference to present their work
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 to 13 April 2024 in Nijmegen, the Netherlands. They will be taking part as session chairs or presenting their work: Wednesday 10 April 8:30-10:00 – Session 1a: Pathogenic Mechanisms I … [Read more]
Clinicians and researchers from the Institute at the Journées de neurologie de langue française
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 to promote and develop neurology in France and other French-speaking countries. The aim is also to encourage exchanges between the various societies and associations concerned with the nervous system. Experts … [Read more]
Atamyo Therapeutics obtains authorisation to launch a gene therapy clinical trial in limb-girdle muscular dystrophy linked to SGCG
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 limb-girdle muscular dystrophy (LGMD) R5 linked to SGCG (gamma-sarcoglycanopathy). Its aim is to test the safety, pharmacodynamics and efficacy of ATA-200, a product resulting from the work of Isabelle Richard, … [Read more]
Prenatal diagnosis is sometimes complicated by the results of high-throughput sequencing.
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 trio (WES-Trio) study was carried out prenatally to determine the origin, a homozygous truncating variant of the ASCC1 gene was identified, known to give a very rare form of spinal … [Read more]
