CMT France: next meeting in Paris

An interesting meeting organized by the association CMT France will be held in Paris next August 26th “CMT avec début précoce des symptômes chez l’enfant et toute personne concernée par la CMT2A (MFN2)”.

The iniziative is addressed to families with children affected by severe forms of CMT and even to people, adults or teenagers, suffering from CMT2A.

An occasion to meet other patients with the same pathology and to exchange, in presence of the distingueshed Prof Benôit Funalot, precious information on the illness.  A neuro pediatrician and a contact person of the AFM Téléthon will be present too.

The programme and the application below:

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Enrolling before August 8th, 2017 is mandatory. The official language of the meeting will be French, no traslation will be provided.

 

 

 

 

 

“CMT: between hope and reality”

CMT: between hope and reality is the title of the Congress organized by CMT France  last March, 25 in Poitiers

This year we can finally talk about hope” said Daniel Tanesse, Vice President and Head of the Congresses the association regularly organizes every year to gather its members and talking about important issues concerning Charcot-Marie-Tooth disease. “Hope which leads us to undertaking scientific studies for the care and treatment of our disease“.

There are, in particular, four ongoing clinical studies the CMT France is official partner of which have been described at the Conference taken place in the centre of the France. The first three are about CMT1A:

  • a project, currently in the Phase III (the final one) of the trial, which concerns the medicine PXT-3003 at the laboratory Pharnext
  • another one in phase II regarding the medicine Ulipristal acetate at the CHRU of Strasbourg
  • and the one in Phase I of the medicine IFB-088 at the InFlectisBioScience laboratory.

The last one is about  CMT1X:

  • a research project the CNRS et INSERM of Strasbourg and Marseille have been carrying out.

On one side is hope feeding our desire and positive expectation (a speech on how epigenetic might affect our health has been given), on the other is reality made by “tiredness and pain”, two constants of the daily life people suffering from this rare disease live.

The topic “Tiredness” in Charcot-Marie-Tooth disease has been addressed by the association for the first time in Poitiers Conference, that of the “Pain“, already considered in the past instead, has been developed in a multidisciplinary approach: neurological (“Pain and CMT “), nutritional (” Micronutrition, pain and tiredness in CMT”), and postural (“Posture, balance and pain”).

The sociologist Michel Billé with his speech about “Hope brings to life…” which concluded with a positive note the interventions of the Conference.

You can find more detailed information about the day on the site of CMT France:

http://www.cmt-france.org/Congres-2017-programme-complet-et-inscriptions-par-ici

Fava bean puree paired with cooked chicory to fight spring tiredness

Spring is finally here. Temperatures rise, colors light up, days get longer and everything is being reborn… everything except us!

We feel off and in a bad mood, our memory is fading a bit: those are the typical symptoms of “sore spring season”. Nothing to worry about… our body is struggling to keep the rhythms of nature up and just needs to be supported.

How? A great help can be offered by certain foods that, with their cargo of vitamins and minerals, give our body a boost of energy. In particular:

LEGUMES. Foods rich in vitamins of group B which help metabolism (mechanically convert glucose into energy) and are essential for the proper functioning of the nervous system. Poor in fat and high in fiber, they are full of minerals ( phosphorus, iron, magnesium and potassium ) useful in fighting physical and mental tiredness;

SEASONAL VEGETABLES. Like, for example, the chicory which contains minerals (potassium, calcium and iron) and is rich in vitamin C, B, P and K;

GARLIC. Rich in several minerals such as potassium, calcium, phosphorus and selenium, as well as vitamins, especially vitamin C and some B group.

To help fight the “spring fatigue” we recommend a recipe coming from South Italy: FAVE BEAN PUREE WITH SAUTEED CHICORY, a single dish ( rich in protein, so alternative to meat and therefore suitable for those suffering from CMT2A) in perfect line with hypotoxic diet we are following.

The beans have a good content of minerals (iron, potassium, magnesium) and a reduced caloric value compared to other legumes.

It would be better to use fresh season beans, but the recipe can always be done by using dried beans, leaving them to soak overnight before cooking. Just rinse beans in running water, remove the floting ones and then cook them in salted water for 2 hours.

fava-bean-puree-with-sautéed-chicory

  • Get the beans out of the pods and put them, alongwith potatoes, in a large pan. Add salt water (until they are just covered) and let them simmer.
  • Cook the chicory (well clean) in a large pot of salted boiling water for about 10 minutes. Then, when it gets warm, drain well squeezing out as much liquid from the greens as possible.
  • Taste and continue to cook until the beans and potatoes soften and the cooking water evaporates, then remove the pan from heat, put in 3 tablespoons of olive oil and, if necessary, other salt. Stir (using a wooden spoon or blending with the mixer) to obtain a puree. Transfer it to a plate.
  • Put a little oil and garlic in the wok,
  • Put a little oil in the pot and cook the garlic until it begins to sizzle. At this point, return the chicory to the pot and stirring. Cook just for a minute or two.
  • Serve a scoop of fava puree on each plate topped with a spoonful of the sautéed chicory.

ALTERNATIVE for those who are allergic to potatoes: cook the beans without the potatoes, add half a sliced ​​onion.

  • Serve with slices of toasted homemade.

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We just have to wish you BUON APPETITO!!

Acceleron Announces Plans to Initiate a Phase 2 Trial of ACE-083 in Charcot-Marie-Tooth Neuromuscular Disease

Acceleron announced that in the second half of 2017 it plans to initiate a Phase 2 clinical trial of ACE-083, the Company’s locally acting muscle agent, for the treatment of patients with Charcot-Marie-Tooth disease (CMT).

This drug whose purpose is to both reinforce and raise locally the volume of the leg muscle has been already tested in facioscapulohumeral muscular dystrophy (FSHD).

“We are pleased to expand our clinical development program for ACE-083 into a second neuromuscular disease” said Matthew Sherman, Executive Vice President and Chief Medical Officer at Acceleron. “We believe ACE-083 can strengthen the targeted leg muscles in CMT patients and thereby improve their ability to walk and avoid falls”.

ACE-083 works by binding to and inhibiting select proteins in the TGF-beta protein superfamily that negatively regulate (reduce) muscle growth, such as activins and myostatin (GDF8). This is believed to increase muscle mass and strength in the muscle where the drug is administered. Untreated muscles or other organs are not affected, reducing the potential for systemic side effects.

We will run point from that promising clinical study, although some of the aspects need clarification, in particular those relating to the selection of the patients and the type of CMT.

For more information:

http://www.businesswire.com/news/home/20170316005230/en/Acceleron-Announces-Plans-Initiate-Phase-2-Trial

http://acceleronpharma.com/product-candidates/ace-083/

 

 

 

 

Acceleron is planning to begin a Phase 2 Trial of ACE-083 in Charcot-Marie-Tooth Neuromuscular Disease in 2017, in which ACE-083 may benefit patients who suffer from muscle weakness causing foot drop and reduced mobility.

ACE-083 works by binding to and inhibiting select proteins in the TGF-beta protein superfamily that negatively regulate (reduce) muscle growth, such as activins and myostatin (GDF8). This is believed to increase muscle mass and strength in the muscle where the drug is administered. Untreated muscles or other organs are not affected, reducing the potential for systemic side effects.

GeneTable of Neuromuscular Disorders

In response to recent discoveries of further implicated genes (and related mutations) in  Charcot-Marie-Tooth , the classification table of the different types relevant to this neuropathy has increased significantly. In particular, with regard to the CMT2 axonal type  we arrived to classify the different forms until the letter Z ( CMT2Z ).

You can see the updated table at the following address:

http://www.musclegenetable.fr/

This is the GeneTable of Neuromuscular Disorders  prepared by Prof Jean-Claude Kaplan – MD of the Cochin Institut in Paris and used by different Professors and researchers as a reference.

Once the page is open, you must click on the box 14. Hereditary Motor Sensory Neuropathies of the red table in the center of the page (Disease group). This will open the page with the CMT table.

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SOFT EXOSUIT: a next generation soft wearable robots

The SOFT EXOSUIT is a next generation soft wearable robots using innovative textiles developed at the University of Harvard’s Biodesign Laboratory. Designed for people who are not paralyzed (but have difficulties in moving), this device acts in the leg muscles and not in the joints.

You know about the exoskeleton already? That is a metal structure wrapping around your legs wich allows, thanks to its motors and sensors, to replicate the movements of the walk. A now well documented device, such as the ReWalk.

Its soft version, the Soft Exosuit, is now being studied in the laboratory of Biodesign of Harvard University. Its peculiarity? The structure is not rigid, but simply in tissue.

A different materials, a different users.

The Soft exosuit is not headed to paraplegics, but is designed for patients who suffer from muscle weakness or from physical or neurological disorders. Its role? The assistance to walk.

Without rigid parts, its benefits are obvious: its weight and agility. The wearer’s joints are unconstrained by external rigid structures, and the worn part of the suit is extremely light facilitating the walk in a natural way.

Its sheath made of elastic fabric contains less sophisticated sensors than those of the metallic exoskeleton and, therefore, less expensive. Its price should be more affordable than the traditional one.

Being still a prototype, we need to check if it might be used by patients with CMT, but that is an interesting experiment, the development of which we should monitor.

FOR MORE INFORMATION :

http://biodesign.seas.harvard.edu/soft-exosuits

CMT2A: recent interesting scientific studies published on Pubmed

We would like to bring some scientific studies about CMT2A we recently found on Pubmed to your attention. We divided them by country as we usually do on our website, in the section Resources, where you can find a large literature about Charcot-Marie-Tooth type 2A. 

ITALY

A scientific study about zebrafish carried out in the Department of Biology of the University of Padua by Dr Bergamin, Dr Mostacciuolo and their team.

ZEBRAFISH TG (HB9: MTS-KAEDE): A NEW TOOL FOR STUDYING THE IN VIVO MOVEMENT OF AXONAL MITOCHONDRIA 

Bergamin G, D Cieri, Vazza G, F Argenton, Mostacciuolo ML

 

USA

A scientific study about a seven months child suffering from CMT2A with a very severe mutation, autosomal recessive, carried out in California and North Carolina.

AUTOSOMAL RECESSIVE MFN2-RELATED CHARCOT-MARIE-TOOTH DISEASE WITH DIAPHRAGMATIC WEAKNESS: CASE REPORT AND LITERATURE REVIEW.

Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, A Harper, Demmer L

 

UNITED KINGDOM

A study carried out in the United Kingdom by Dr Mary Relly and his team.

SEMI-DOMINANT MUTATIONS IN MFN2-RELATED NEUROPATHY AND IMPLICATIONS FOR GENETIC COUNSELING.

Tomaselli PJ, blushing AM, Polke JM, Poh R, Blake J, Reilly MM

 

CZECHOSLOVAKIA

A scientific study that actually brings up a new mutation of the gene MFN2.

MASSIVELY PARALLEL SEQUENCING DETECTED IN MFN2 GENE MUTATION IN THE MISSED BY SANGER SEQUENCING DUE TO A PRIMER MISMATCH ON AN SNP SITE.

Neupauerová J, Grečmalová D, Seeman P, Laššuthová P.

 

CANADA-AUSTRALIA

A study carried out in Canada and Australia on a new homozygous mutation MFN2.

HOMOZYGOUS MUTATIONS IN MFN2 MULTIPLE CAUSES SYMMETRIC LIPOMATOSIS ASSOCIATED WITH NEUROPATHY.

Sawyer SL, Ng Cheuk-Him A, Innes AM, Wagner JD, Dyment DA, Tetreault M; Care4Rare Canada Consortium, J Majewski, Boycott KM, Screaton RA, G. Nicholson

We invite you to enjoy reading and to suggest or share with us any interesting studies that you have found!