Blog Archives
Oculopharyngodistal myopathy: already 3 genes identified
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are due to a a repeat expansion of triplets. OPDM is much rarer than DMOP and is distinguished by the topography of muscle involvement in the limbs and the genes involved. In oculopharyngeal muscular dystrophy, the muscle damage is proximal and the abnormality involves the PABPN1 … [Read more]
New study supports leuprorelin in Kennedy disease
Kennedy’s disease is a relatively slow-growing motor neuron disease. Among the various clinical signs, swallowing disorders strongly affect the quality of life of patients. Leuprorelin, a gonadotropin releasing hormone (GnRH) analogue already used in the treatment of prostate cancer, reduces the production of testicular androgens. Administered to Kennedy disease mouse models, leuprorelin improves their motor … [Read more]
ERN EURO-NMD webinar, 27 May: Prof. Sabrina Sacconi and Dr Teresinha Evangelista
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN. Thursday 27 mai 2021 – 4:00 am (Paris time) What’s new in FSHD ? Prof. Sabrina Sacconi (CHU Nice, France) Dr Teresinha Evangelista (Association Institut de Myologie , APHP-GH Pitié Salpetrière, Paris) You may register here: https://aim.zoom.us/webinar/register/WN_h87BX1UCSp2yuzDZvY2tLA
The Institute is recruiting a Webmaster & Community manager (M/F) for EURO-NMD
The Institute of Myology Located in Paris at the heart of Europe’s largest hospital, the Pitié-Salpêtrière, the Institute of Myology was created in 1996 under the impetus of an association of patients and parents of patients, the AFM- Telethon. Its objective is to promote the existence, recognition and development of myology as a clinical and … [Read more]
M&M’s – Muscle Monday Seminar – 31 May – Ronenn Roubenoff
Leave the guns, take the cannoli: What bimagrumab tells us about the myostatin pathway in humans Monday May 31st 2021 from 12 am to 1 pm Ronenn Roubenoffn (Global Head Translational Medicine Discovery & Profiling, Global Head, Musculoskeletal Translational Medicine, Novartis Institutes for Biomedical Research, Switzerland) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > … [Read more]
Is the risk-taking inherent in DMD gene therapy acceptable to patients?
Duchenne muscular dystrophy (DMD), the most common form of myopathy in children, is currently experiencing major developments in innovative therapies. This neuromuscular disease leading to loss of walking in early adolescence and early death in adulthood, can thus benefit, still experimentally in most cases, from different therapeutic approaches such as exon(s) skipping (by antisense oligonucleotides) … [Read more]
Preliminary results of FIREFISH, a trial evaluating ridisplam in type 1 SMA
The primary endpoint of the second part of the FIREFISH clinical trial has been met. This is an announcement by Roche and PTC Therapeutics, the two laboratories that develop risdiplam, a small molecule orally administered correcting the maturation of SMN2. The FIREFISH clinical trial is an open-label, international trial (also taking place in France), involving … [Read more]
Growing number of gene therapy approaches in CMT
According to 3 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) forms of Charcot-Marie-Tooth disease (CMT) help to target the Schwann cells, supplying them with gene therapy, and thus reducing peripheral nervous system involvement. American researchers have constructed a gene therapy product incorporating the FIG4 gene (associated with … [Read more]
Launch of ENMC Mid-Career Mentoring Programme – Interview with Dr Ana Ferreiro
The European Neuromuscular Centre (ENMC) is launching a mentoring programme this year aimed at mid-career neuromuscular disease specialists. This programme is open to doctors and scientists, as well as to individuals who wish to deliver innovation and federative and co-operative leadership with a view to achieving progress for the common good. Interview with Dr Ana … [Read more]
Nutritional ketosis before exercise shows benefits in type III glycogenosis with major muscle damage
Cori-Forbes disease or type III glycogenosis is an inherited disease caused by a deficiency of the debranching enzyme, causing a defect in the production of glucose from glycogen in the liver and sometimes in muscle. The symptoms are hepatomegaly, fasting hypoglycaemia, and in some patients (type IIIa) muscle damage (fatigue, intolerance to exertion, cardiomyopathy, etc.). … [Read more]
