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1655 news items
Research
DM1: an oligonucleotide administered in the brain of model mice
On 28/07/2022
IONIS 486178, an antisense oligonucleotide optimised to target muscle cells (through coupling to an antibody) injected systemically, improves muscle damage in mice with DM1. Intracerebroventricular…
Research
Identification of sensitive outcome measures / evaluation tools for clinical trials in LGMDR12
On 28/07/2022
A Belgian natural history study evaluated the sensitivity of walking tests, MRC score and isokinetic dynamometer in 24 walking patients with ANO5-related LGMD R12 over…
Research
US team shows feasibility of gene therapy in mice for CMD 1D
On 27/07/2022
A team from the University of Iowa has investigated the effectiveness of gene therapy in advanced stages of muscular dystrophy. The researchers injected an AAV2/9…
Research
Results of a Cure SMA survey on patient participation in clinical trials
On 27/07/2022
Feedback from participants in a clinical trial in SMA was collected through a survey conducted by the American association Cure SMA. Analysis of the results…
Events
The Institute is recruiting a Senior Project Manager (M/F) for the European Reference Network (ERN) EURO-NMD
On 25/07/2022
ERN EURO-NMD European Reference Networks (ERNs) are networks involving centers of expertise and health care providers across Europe. They aim to tackle complex or rare…
Research
DM1: RNA toxicity alters astrocyte morphology, adhesion and migration – Interview with Mario Gomes-Pereira
On 25/07/2022
Mario Gomes-Pereira and his team* have just published a paper in Nature Communications** on the toxicity of mutant RNA that alters the morphology, adhesion and…
Events
Report of the 2022 AcadeMYO session – Interview with Andoni Urtizberea
On 19/07/2022
Andoni Urtizberea reports on the 2022 session of AcadeMYO, the fully virtual version of the Institute’s Myology Summer School, which was held from 11 to…
Research
The first participant with FSH was included in the REACH phase III trial of losmapimod
On 18/07/2022
The oral drug losmapimod has been shown to slow the progression of facioscapulohumeral myopathy (FSH) in the phase II ReDUX4 trial. The phase III trial…
Research
The Institute’s clinicians and researchers in force at the ICNMD 2022 conference in Brussels
On 12/07/2022
The International Congress on Neuromuscular Diseases (ICNMD) was held in Brussels from 5 to 9 July 2022. The Institute of Myology was very well represented,…
Research
Acceleron abandons development of ACE-083 in FSH
On 12/07/2022
Facioscapulohumeral muscular dystrophy (FSH or FSHD) is characterised by a selective muscle deficit (muscles of the face, shoulders and arms). This characteristic was an advantage…
Research
Impact of frontal lobe damage on social dysfunction in DM1
On 11/07/2022
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease that affects muscular and extra-muscular systems, including the central nervous system. Brain damage in…
Research
New TMP3 variant: the phenotypic range of TMP3-related congenital myopathy expands
On 07/07/2022
Mutations in the tropomyosin 3 (TPM3) gene are associated with autosomal dominant and recessive nemaline 1 (NEM1) myopathy, congenital myopathy with disproportionate muscle fibre types…
Events
ERN EURO-NMD webinar, July 7th: Mario Gomes-Pereira & Arnaud Klein (REDs team)
On 07/07/2022
Myotonic dystrophy type 1: from DNA repeat expansion and toxic RNA to the development of new therapeutic approaches Thursday July 7th, 2022 – 16:00-17:00 (Paris time) Speakers:…
Research
Muscle regeneration affects AAV vector transcription
On 06/07/2022
As part of the research on the molecular mechanisms that impact AAV vector expression in pathological muscle, the group of Sofia Benkhelifa-Ziyyat (research project leader/AIM)…
Events
The REDs team gathered for the IDMC-13 conference
On 01/07/2022
The 13th International Myotonic Dystrophy Consortium Congress (IDMC-13) took place from 22 to 25 June 2022. It should have been held both on-site in Osaka,…
Research
A major 13-year study of preconception counselling and prenatal diagnosis in FSH
On 30/06/2022
A retrospective study on the requests for preconception consultation or prenatal diagnosis made between January 2008 and December 2020 to the Genetic Counselling Service associated…
Events
Clinicians from the Institute at the 8th EAN Congress
On 29/06/2022
The 8th Congress of the European Academy of Neurology was held from 25 to 28 June in Vienna, Austria. Several clinicians from the Institute of…
Research
Identification of a new communication pathway in the neuromuscular junction – Interview with Laure Strochlic
On 27/06/2022
A study conducted by the “Neuromuscular connectivity in health and pathologies” team led by Laure Strochlic and Bertrand Fontaine at the Institute’s Myology Centre for…
Research
Initial findings from the European registry for Lambert-Eaton syndrome
On 21/06/2022
Lambert-Eaton syndrome is an ultra-rare presynaptic myasthenic syndrome of autoimmune origin. A European registry has been established with the support of the pharmaceutical industry and…
Research
A setback in the use of monoclonal antibodies in FOP
On 20/06/2022
Fibrodysplasia ossificans progessiva (FOP) is an ultra-rare disease caused by a mutation, almost always identical, in the ACVR1 gene. This gene encodes a type I…