AFM-Téléthon and CMT: the advancement of research

CMT France, the friend association we are sharing a common project of information exchange with, sent us the file SAVOIR & COMPRENDRE: avancées de la recherche (“Knowing & understanding: the advancement of research”) edited by AFM-Téléthon.

Many updates on Charcot-Marie-Tooth research as international conferences, ongoing studies and clinical trials, scientific and medical publications concerning this pathology are submitted in this document drawn up for the 2017 Families’ Day.

You may also download the file on the AFM-Téléthon web site:

http://www.afm-telethon.fr > Concerné par la maladie > Maladie de Charcot-Marie-Tooth

where you can find other technical, scientific, medical and psychological information about CMT.

Although it does include no reference to CMT2A, knowing the quantity and the quality of research (so much and absolutely innovative) in the field of CMT is interesting for all of people suffering from this pathology (doesn’t matter what the type is) in the hope that something about the cure may happen a day.

The report is written in French, but if you have something to ask about a particular topic, we will be pleased to translate its contents. Do not hesitate to contact us!

Sport is life! Champions with CMT: Jonathan Hivernat

The last Paralympic Games have brought amazing athletes (and their performances full of courage and ability) to the fore causing respect and admiration in all of us. One of those was Jonathan Hivernat who plays rugby on wheelchair and suffers from CMT.

Jonathan is the captain of the French team that went to Rio 2016 . At 11 he was diagnosed with a severe form of CMT1A which forced him very soon to use a wheelchair; Jonathan, however, never gave up: before he started practicing table tennis and then, at 19, he discovered rugby on wheelchair.

This sport, invented by hockey and football players injured on the field, is one of the most spectacular sports of the Paralympic Games: the chairs become real assault weapons that players must solidly hold on to avoid slipping and being hit.

“We could say that rugby on wheelchair allows us to mistreat the prejudices about disability: there is nothing more disrespectful than willfully dropping a person seated on a wheelchair,” says CMT from France.

“Champions despite everything” is the title of the article published on the association’s magazine dedicated to this amazing French athlete; we can all be champions, we would like to add, because sport is for everyone, even (and especially) for those suffering from a pathology like ours.

Interesting scientific studies collected on Pubmed

We would like to bring some scientific studies about CMT2A we recently found onPubmed 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. 

Some scientific studies carried out in China below.

  • A scientific study about three new MFN2 pathogenic mutations find out through NGS method (Next-Generation Sequencing) at Shanghai Medical College and University Hospital of Hangzhou, analysing 22 chinese families with CMT.

IMPROVING MOLECULAR DIAGNOSIS OF CHINESE PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE BY TARGETED NEXT-GENERATION SEQUENCING AND FUNCTIONAL ANALYSIS

  • A scientific study conducted at the University of Suzhou and, simultaneously, at the College of Shanghai a new mutation of the gene MFN2 was discovered in a child of four years.

A NOVEL MUTATION IN P.VAL244LEU MFN2 LEADS TO CHARCOT-MARIE-TOOTH DISEASE TYPE 2.

  • A scientific study conducted at the Peking University in Beijing in which the clinical symptoms and genetic mutations have been analysed in 20 patients from 12 families with Chinese CMT2A.

MFN2-RELATED GENETIC AND CLINICAL FEATURES IN A COHORT OF CHINESE PATIENTS CMT2.

  • A scientific study carried out in Changsha from which we can obtain some statistical number about the CMT2A incidence: MFN2 gene mutation accounts for 18% of CMT sick families in China.

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:

programe_du_26_aout_2017(2)

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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.