Blog Archives
MDA clinical and scientific conference: organized online from March 15 to 18, 2021
This year, the Muscular Dystrophy Association (MDA) Clinical and Scientific Conference brought together more than 1,200 participants and 100 speakers “online” from March 15 to 18, 2021. Connected to a virtual platform, everyone could follow videoconferences or watch e-posters on research and development, treatment of neuromuscular diseases, the impact of Covid-19 on neuromuscular diseases. Several … [Read more]
Juvenile dermatomyositis: each specific auto-antibody has its own clinical picture
Juvenile dermatomyositis is the most common inflammatory myopathy in children. In its typical form, it causes as skin lesions and predominantly proximal symmetrical bilateral muscle weakness. Other symptoms (digestive, joint, pulmonary, etc.) can occur and the expression of the disease appears, in fine, quite heterogeneous. A study carried out in Germany confirms this great diversity … [Read more]
M&M’s – Muscle Monday Seminar – 19 April – Benjamin Prosser (USA)
Microtubules in Cardiac Mechanics and Growth Monday 19 April – 2 pm-3 pm Benjamin Prosser (Assistant Professor of Physiology, Perelman School of Medicine, Philadelphia, US) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the presentation and the speaker
Two cohort studies in CMT 2A
Charcot-Marie-Tooth disease type 2A (CMT 2A) is one of the most common axonal forms of CMT. It is characterized by great clinical heterogeneity (age of onset of symptoms, severity of the condition, existence of visual, hearing impairment, etc.) and genetic (many abnormalities in the MFN2 gene identified, dominant and recessive transmission possible). The Inherited Neuropathy … [Read more]
A French team is developing an effective preclinical approach in CMT 1A by combining siRNA and squalene nanoparticles
Type 1A Charcot-Marie-Tooth disease is the most common form of CMT. It is due to a duplication of the PMP22 gene causing overexpression of the PMP22 protein which accumulates in Schwann cells, which disrupts the myelin sheath and slows the transmission of nerve impulses. French researchers have developed a new approach with a small interfering … [Read more]
M&M’s – Muscle Monday Seminar – 12 April – Sonia Alonso Martin (Spain)
Intrinsic muscle abnormalities in Amyotrophic Lateral Sclerosis Monday 12 April – 12 am-1 pm Sonia Alonso Martin, PhD (Neuromuscular Diseases Group (Neurosciences Area) at BIODONOSTIA HRI (Donostia/San Sebastián, Spain). Research Fellow – Gipuzkoa Fellows Program for Talent Attraction and Retention) Invited by Maria-Grazia Biferi and Capucine Trollet On prior registration for people outside the Institute … [Read more]
In LGMD R4 related to β-sarcoglycane, SRP-9003 gene therapy appears to be well tolerated and to have promising efficacy
Intermediate outcomes of the phase I / II gene therapy trial with SRP-9003 (scAAVrh74.MHCK7.hSGCB) in children with LGMDR4 linked to β-sarcoglycan (ex-LGMD2E), aged 4 to 13 years, were announced at the annual conference of MDA, the American Muscular Dystrophies Association. This 3-year, single-injection, intravenous infusion safety trial of SRP-9003 tested the tolerance of a first … [Read more]
SMA-PAR, a study of the parenthood experience of parents of children with SMA conducted by Sophie Boursange
Sophie Boursange, psychologist at I-Motion, is currently carrying out research in human and social sciences within the department, under the supervision of Prof. M. Gargiulo, clinical psychologist and Professor of psychology at the University of Paris. This research aims to describe the subjective experience of parents and to analyze the impact of the disease on … [Read more]
The institute is recruiting a Clinical Research Physician
Located in Paris in the heart of the largest European hospital, the Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Téléthon, a patient’s organization. Its objective is to promote the recognition and development of myology as a standalone clinical and scientific discipline. The Institute of Myology coordinates, around the patient, medical care, basic … [Read more]
Risdiplam (Evrysdi): the third treatment for SMA authorized in Europe
SMA, that had no long-term treatment so far, has experienced an unprecedented therapeutic revolution in recent years: an antisense oligonucleotide (nusinersen or Spinraza®), a gene therapy product (onasemnogene abeparvovec or Zolgensma ®) and now an oral treatment, risdiplam (Evrysdi ™), now constitutes an innovative therapeutic arsenal for patients with SMA. In fact, the European Commission … [Read more]
