Newsletter :: Institut de Myologie |
#28 | |
 | Monthly Newsletter - June 2010
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 Edito  WELCOME to our summer issue of the Newsletter! The highlight of this edition is without a doubt the Upper Limb Evaluation in Non Ambulatory Patients With Neuromuscular Disorder (ULENAP) clinical trial. The Institute of Myology is currently recruiting DMD, SMA or other neuromuscular disorder patients as well as healthy boys, aged 8-30 years, to participate in this trial. For more information, don’t hesitate to contact Mohamed Benali: ulenap(at)institut-myologie.org. In addition, you can find information about this year’s Inter-University Diploma of Myology and the launch of a real time transmission system with students in the Reunion Island. Finally, how does one relate the fruit of numerous years of research at the Institute of Myology? In over 1,300 articles published from 1978 to 2008 that represent the foundations of myology, all now available at the Institute library in the Babinski building! And at the last minute, some news from the Summer School of Myology of the Institute.
UNTIL our next issue in September, we wish you all an enjoyable and safe summer! RNC |
The Institute of Myology is recruiting volunteers!
The Institute of Myology is recruiting patients and healthy subjects to participate in the ULENAP clinical trial. Mohamed Benali, one of two physiotherapists responsible for carrying out the tests, explains the procedure of a visit.
To begin, can you briefly recall what this study involves?
It involves studying the relevance of tools for measuring muscle strength of upper limbs in non-ambulatory (not able to walk more than 10 meters) patients with neuromuscular diseases. To verify the reproducibility of measurements, tests are repeated over four visits: V1 and V2 (at least 30 days apart), V3 at 6 months and V4 12 months later. These measurement tools will be used to evaluate the efficacy of future therapies. There is indeed no such test for these patients.
To begin, can you briefly recall what this study involves?
It involves studying the relevance of tools for measuring muscle strength of upper limbs in non-ambulatory (not able to walk more than 10 meters) patients with neuromuscular diseases. To verify the reproducibility of measurements, tests are repeated over four visits: V1 and V2 (at least 30 days apart), V3 at 6 months and V4 12 months later. These measurement tools will be used to evaluate the efficacy of future therapies. There is indeed no such test for these patients.
The IUD of Myology 2009-2010
The IUD of Myology courses have just terminated. The 2009-2010 season welcomed 17 students including 5 from the Reunion Island, from various professional backgrounds. Bruno Eymard, co-director with Jean Pouget of the IUD, talk about the innovations that have characterised this year and two students Dr. Meryem Benahmed (anatomopathologist at the Anticancer Centre in Alger) and Dr. Stéphane Doutreleau (cardiologist at the reference centre for genetic neuromuscular diseases in children and adults at the University Hospital of Strasbourg), recount the motives for their registration. And finally some information on the professional and geographical origins of the students.
Are IUD lessons changing?
Of course, every year the lessons are up dated. One of the challenges that lie ahead is to integrate recently described diseases, such as the new dystrophies, without forgetting the old ones.
Of course, every year the lessons are up dated. One of the challenges that lie ahead is to integrate recently described diseases, such as the new dystrophies, without forgetting the old ones.
Essential myology articles available at the library of the Institute
The cause: the necessity for Gisèle Bonne to recuperate space and thus remove the filing cabinets from her office filled with reprints: Ketty Schwartz’s archives and the Inserm laboratory.
On arrival, more than 1,300 articles published from 1978 to 2008 are available at the library. The referencing, undertaken by Solange Lliteras for her Institute of Technology Diploma internship, lists publications from U153*, U523**, and U582*** successively directed by Michel Fardeau, Ketty Schwartz and Pascale Guicheney.These articles represent the foundations of myology. They recount the history of research conducted in this field at the Pitié site. They are now available at the Institute library (Babinski Building) and easily accessible through the EndNotes database that indexes them. Two types of publications are listed: peer-reviewed articles and educational publications. Each reference corresponds to a physical document.
> Information and consultation of documents from Nathalie Haslin : 01 42 16 58 88
n.haslin(at)institut-myologie.org
* U153: Development, Pathology, regeneration of the neuromuscular system, directed by Mr. Michel Fardeau and Mrs. Ketty Schwartz
** U523: Genetics, pathophysiology and therapy of skeletal and cardiac muscle disorders, directed by Mrs. Ketty Schwartz
*** Unit 582: Pathophysiology and therapy of striated muscle, directed by Mrs. Pascale Guicheney
IM recent publications
- Belus A, Piroddi N, Ferrantini C, Tesi C, Cazorla O, Toniolo L, Drost M, Mearini G, Carrier L, Rossi A, Mugelli A, Cerbai E, van der Velden J, Poggesi C: Effects of Chronic Atrial Fibrillation on Active and Passive Force Generation in Human Atrial Myofibrils.
Circ Res, 2010 May 13. [Epub ahead of print] - Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bonnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Prive GG, Hannink M, Nurnberg P, Voit T: Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
Brain, 2010 Jun 16. [Epub ahead of print] - Joly L, Thauvin-Robinet C, Huet F, Pinoit JM, Contrain A, Cassini C, Coron F, Gautier E, Bonin B, Gargiulo M, Héron D, Durr A, Faivre L: Les tests génétiques présymptomatiques chez le mineur : enquête auprès des généticiens français et position du groupe français de génétique prédictive.
Arch Pediatr, 2010 May 6. [Epub ahead of print] - Lecourt S, Marolleau JP, Fromigue O, Vauchez K, Andriamanalijaona R, Ternaux B, Lacassagne MN, Robert I, Boumediene K, Chereau F, Marie P, Larghero J, Fiszman M, Vilquin JT: Characterization of distinct mesenchymal-like cell populations from human skeletal muscle in situ and in vitro.
Exp Cell Res, 2010 Apr 27. [Epub ahead of print] - Lorain S, Peccate C, Le Hir M, Garcia L: Exon Exchange Approach to Repair Duchenne Dystrophin Transcripts.
PLoS ONE, 2010, 5 (5):e10894 - Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F: High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Eur J Hum Genet, 2010 May 12. [Epub ahead of print] - Uro-Coste E, Fernandez C, Authier FJ, Bassez G, Butori C, Chapon F, Delisle MB, Dubourg O, Feasson L, Gherardi R, Lacroix C, Laquerriere A, Letournel F, Magy L, Maisonobe T, Marcorelles P, Maurage CA, Mezin P, Mussini JM, Penisson-Besnier I, Romero NB, Streichenberger N, Vallat JM, Viennet G, Vital A, Voit T, Boucharef W, Figarella-Branger D:
Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d'experts sous l'égide de la Société française de neuropathologie, de la Société française de myologie et de l'Association française contre les myopathies.
Revue Neurologique, 2010, 166 (5):477-485
New treatment strategy discovered for oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is characterized by late-onset (usually after the age of 45 years), ptosis, dysphagia, and a positive family history with involvement of two or more generations. Weakness of facial and limb muscles often occurs later. Oculopharyngeal muscular dystrophy is caused by small alanine expansions in polyadenylate binding protein nuclear 1 (PABPN1) protein resulting in its intranuclear accumulation in skeletal muscle. In humans and mice, PABPN1 mutations result in the presence of aggregates inside muscle fibres and apoptosis. It isn't clear if the large aggregates themselves are the most toxic disease-related phenomena, although the aggregation process is likely to cause damage. In this study, researchers from Cambridge University have found that a chemical called cystamine reduced the symptoms of OPMD in a mouse model of the disease. In mice, cystamine delayed the onset of muscle weakness and improved muscle strength.
First US exon-skipping trial opens
A study of the experimental exon-skipping drug, GSK2402968, under development by GlaxoSmithKline, has opened at Nationwide Children's Hospital in Columbus, Ohio. GSK2402968 is designed to treat people with Duchenne muscular dystrophy (DMD), and the first such drug to be tested in clinical trials in the United States. The trial is among the first to be tested in non-ambulatory DMD participants and will assess safety, tolerability and drug metabolism data in non-ambulatory boys with DMD. Trial participants must have a diagnosis of DMD; have been in a wheelchair full time for at least one year, but no more than four years; and have one of a specific group of genetic mutations. Participants will receive a subcutaneous injection of one of several doses of the treatment or placebo, followed by blood sample tests over the following 24 hours. They must return for follow-up visits to include blood and urine tests and physical examinations at the study site one week and four weeks after the injection.
AVI BioPharma releases promising results from the exon skipping clinical trial
The biopharmaceutical company AVI BioPharma has announced additional encouraging results from its clinical trial of AVI4658, an experimental treatment for Duchenne muscular dystrophy (DMD). The new results show that, at higher doses, AVI4658 can result in substantial production of the missing dystrophin protein in muscle fibres. AVI-4658 is designed to skip exon 51 which could potentially be used to treat 13% of boys with Duchenne muscular dystrophy. The ongoing Phase I b/II clinical trial, which was conducted at two centres in the United Kingdom aimed to assess the safety and tolerance of body-wide treatment with AVI-4658. Data from the study demonstrated the first ever reported generation of new dystrophin-positive muscle fibres of more than 50% of normal in a patient with DMD following systemic administration of a drug.
Latest research highlights
Discover our selection of scientific and medical publications in the fields of myology and neuromuscular diseases: a summary of each publication aimed at the general reader, highlighting the main points of the article and the authors’ conclusions is provided.
- Overexpression of dysferlin leads to myopathy in mice - Read
- Prosensa and GlaxoSmithKline begin development of more compounds to treat Duchenne Muscular Dystrophy - Read
- Poliovirus-infected macrophages detected in the thymus of patients with autoimmune myasthenia - Read
- Impairment of the interaction between MuSK and Dok-7 proteins provokes a congenital myasthenic syndrome due to mutations in the gene MuSK - Read
- MBNL1 protein deficiency is implicated in emotional abnormalities associated with myotonic dystrophy - Read
- Activation of the ubiquitin-proteasome proteolytic pathway associated with muscle weakness in myotonic dystrophy - Read
- Charcot-Marie-Tooth type 2A: involvement of mitofusin 2 in the axonal transport of mitochondria - Read
- Pompe Workshop
10-12 September 2010, Naarden, Netherland
> Further details
- Young researchers Congress - René Descartes Prize
29 September 2010 - Institut Pasteur, France
Abstracts Deadline: 15 July 2010
> Further details
> Further details
- Annual Meeting of the French Society of Immunology
24-26 November 2010 - Marseille, France
Registration deadline: 31 October 2010
Thematic workshop: "Cell death mechanisms and their therapeutic manipulation" (23 Nov 2010)
Joint meeting: "Vaccinology 2010" (22-23 Nov 2010)
> Further details
Thematic workshop: "Cell death mechanisms and their therapeutic manipulation" (23 Nov 2010)
Joint meeting: "Vaccinology 2010" (22-23 Nov 2010)
> Further details
Press Releases
- Innovative biotherapies and genetic eye diseases: the Réseau Thérapie Génique Oculaire (Ocular Gene Therapy Network) prepares to launch human trials
On June 4th, around thirty innovative biotherapy and genetic eye disease experts will gather together at Généthon (Evry) to review, for the first time, the studies carried out so far as part of the Réseau Thérapie Génique Oculaire (R-TGO – Ocular Gene Therapy Network).
The network was launched in 2009 by Généthon and is co-led by José-Alain Sahel (Institut de la Vision, Paris), Fabienne Rolling (Nantes) and Laurence Tiennot-Herment (Généthon/Association Française contre les Myopathies). Made up of project teams, representatives from centres of excellence in the field of eye diseases and gene therapy experts from the Généthon laboratory, its objective is to accelerate the launch of gene therapy trials for genetic eye diseases in the next five years.
> Access the complete press release - 2 pages - 18 ko
The network was launched in 2009 by Généthon and is co-led by José-Alain Sahel (Institut de la Vision, Paris), Fabienne Rolling (Nantes) and Laurence Tiennot-Herment (Généthon/Association Française contre les Myopathies). Made up of project teams, representatives from centres of excellence in the field of eye diseases and gene therapy experts from the Généthon laboratory, its objective is to accelerate the launch of gene therapy trials for genetic eye diseases in the next five years.
> Access the complete press release - 2 pages - 18 ko
- New therapies for degenerative diseases
Several research groups have allied with industry partners to launch EndoStem, a large European collaborative project to advance the treatment of muscle diseases that affect a large number of patients. The project will promote the development of strategies involving skeletal muscle, blood vessels, immune system and stem cells to repair damaged muscle tissue directly.
> Access the complete press release - 1 page - 35 ko
> Access the complete press release - 1 page - 35 ko
Job opportunity
- Postdoctoral Research Fellow in Neuromuscular Disease: Camden, North London, United Kingdom
A 24-month postdoctoral Research Fellow position is available to work in the newly established Neuromuscular Diseases group formed by Professors Wells and Timmons and Drs Brown and Piercy. The successful candidate will engage in independent and collaborative research within the group, with an emphasis on the pathogenesis and treatment of human or veterinary neuromuscular disease. Members of the group are affiliated with the MRC Centre for Neuromuscular Disease and are actively involved in translational research.
Book
- A Guide to Human Gene Therapy
edited by Roland W Herzog & Sergei Zolotukhin
This book will cover topics that are at the forefront of biomedical research such as RNA interference, viral and non-viral gene transfer systems, treatment of hematological diseases and disorders of the central nervous system. Leading experts on the respective vector or disease will contribute the individual chapters and explain cutting-edge technologies. It also gives a broad overview of the most important gene transfer vectors and most extensively studied target diseases.
Test your knowledge
1. In the ULENAP clinical trial, which tool was specially designed at the Institute of Myology for non-ambulatory neuromuscular patients?
a) Taping
b) Moviplate cylinders
c) Handgrip
d) Myowrist
a) Taping
b) Moviplate cylinders
c) Handgrip
d) Myowrist
2. Several research groups have allied with industry partners to launch a large European collaborative project called
a) EndoStem
b) MyoStem
c) EndoCell
d) MyoCell
a) EndoStem
b) MyoStem
c) EndoCell
d) MyoCell
3. In the study of the experimental drug, GSK2402968 under development by GlaxoSmithKline, which route of administration was employed?
a) intramuscular
b) intravenous
c) subcutaneous
d) intracardiac
a) intramuscular
b) intravenous
c) subcutaneous
d) intracardiac
4. Which GTPase enzyme found in the outer mitochondrial membrane is involved in Charcot Marie tooth type 2A?
a) mitofusin 2
b) Ras p21
c) Gyp1p
d) Rab6
a) mitofusin 2
b) Ras p21
c) Gyp1p
d) Rab6
5. Which chemical has recently been found to reduce the symptoms of OPMD in a mouse model of the disease?
a) cysteine
b) cytosine
c) citrulline
d) cystamine
a) cysteine
b) cytosine
c) citrulline
d) cystamine
Discover our selection of scientific and medical publications in the field of myology and of neuromuscular diseases.
The monthly Newsletter of the Institute of Myology keeps you up to date with developments in myology research, and presents a summary of the latest scientific, medical, political and associative news concerning neuromuscular diseases.
You can access our Newsletter by connecting directly to the Institute of Myology website, or by subscribing.
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| Editor-in-chief : Samia Ghozlane Editor : Anne Berthomier; Racquel N. Cooper. Editorial Board : Thomas Voit; J. Andoni Urtizberera; Stéphane Roques. Contact us – © 2010 – AFM-Institut de Myologie. All rights reserved. | |
