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International Workshop on Alternating Hemiplegia (Genoa, 11 November 2011)
Di Admin (del 07/01/2012 @ 18:26:24, in International Workshop on AHC 2011, linkato 814 volte)

Preliminary Report

International Workshop on Alternating Hemiplegia of Childhood
Genoa, 11 November 2011

On Friday 11 November, in the beautiful Villa Quartara of the Benedictine Abbey “della Castagna” in Genoa, home of the International Center for Studies and Training “Giannina Gaslini – CISEF”, the International Workshop on Alternating Hemiplegia of Childhoodwas held.


The Villa Quartara of the Benedictine Abbey “della Castagna” in Genoa
left picture, on the ground floor, the doors of three rooms where the Workshop was held
right picture, one of the beautiful rooms of the villa used as a buffet area

The Workshop was organized by the Scientific Institute IRCSS G. Gaslini in Genoa in collaboration with A.I.S.EA Onlus www.aisea.org, the Association of the Italian patients affected by Alternating Hemiplegia AHC, a severe neurological disease (50 cases in Italy, less than 1,000 worldwide).
Professor Edvige Veneselli, Director of the Department and University Chair of Child Neurology of the Gaslini Institute, was responsible for the scientific direction of the Workshop, in collaboration with all the Scientific Committee of the Association; the event was sponsored by A.I.S.EA and AFHA
www.afha.org, the association of the French patients affected by AHC.


Professor Veneselli, on the left, officially opens the Workshop welcoming all the participants

The Workshop was attended by many families, doctors and researchers, both Italian and European, and was very productive in terms of news about the research and the care of the patients affected by this rare disease.
Many high-level scientific contributions have been provided. The Workshop began with a lecture by Professor Brian Neville, Professor Emeritus at the University College of London: in addition to providing a general overview of the disease, he pointed out how its impact on the quality of life of the patients and their families is dramatic, mainly because of its extreme variability and unpredictability. Many times, all this makes also the relationship between doctor and patient very difficult and conflicting.


Professor Brian Neville, of the University College of London, President of the European Network for the Research on Alternating Hemiplegia ENRAH

The whole morning was then dedicated to an update and insights into the pathogenetic hypotheses and the clinical and therapeutic aspects: the typical paroxysmal manifestations of the disease, the non paroxysmal manifestations, the clinical criteria for diagnosing in the absence of any instrumental markers, the opportunity to turn the attention to new classes of drugs, in addition to those traditionally used until now, all of which are targeted only to alleviate the symptoms of the disease, since there is not yet a specific definitive treatment.
In the afternoon the research activities currently underway have been presented, to identify the causes of Alternating Hemiplegia; among these activities, in particular, the genetic research projects based on the exome sequencing, on the genomic analysis using CGH-Array, and the screening of candidate genes. Most of these projects take place in Italy, promoted and supported by A.I.S.EA, in collaboration with its Scientific Committee.


Doctor Michael Rotstein, di Tel Aviv, one of the authors of the scientific article published about the GLUT1 as a candidate gene for Alternating Hemiplegia


Professor Fiorella Gurrieri, of the University Cattolica in Rome, director, together with Professor Giovanni Neri, of the research project based on the exome sequencing in the patients participating to the Biobank and Clinical Registry for Alternating Hemiplegia I.B.AHC

The project I.B.AHC – Biobank and Clinical Registry for Alternating Hemiplegia www.ibahc.org has also been presented, coordinated and funded by A.I.S.EA, with the objective to efficiently support the research, by making available, to all the interested researchers in Italy and abroad, the clinical data and biological samples of as many patients as possible with a validated diagnosis of AHC.


The list of the available clinical data and biological samples is consultable on the public website of the service I.B.AHC – Biobank and Clinical Registry for Alternating Hemiplegia www.ibahc.org

A due attention was also devoted to the problems related to the social and health care for the patients affected by AHC: both the “White Book for Understanding and Managing this Rare Disease”, written by the experts of the Scientific Committee of A.I.S.EA in collaboration with its families, and the “Guidelines for the Care of the Persons with AHC and their families”, published by the Italian Ministry of Health, have been presented.


One of the many research projects and studies presented during the afternoon session of the Workshop

As a closing contribution, the president of A.I.S.EA presented the initiatives of the association to support its families: among them, a new service of social assistance and a Funding Call for Individual Projects aiming to the development of the assistance and the autonomy of the persons with AHC, organized thanks to the contributions received by the “5 per thousand” (i.e. Italian people can choose a non-profit organization to donate the 5 per 1,000 of their taxes).
The president also talked about the problem of the lack of official acknowledgement of AHC as a Rare Disease by the Italian Health Ministry, pursuant to Ministerial Decree N. 279 for Rare Diseases in 2001, and invited all the participants to sign the European Petition
http://dirittinonregali.altervista.org promoted by the National Committee named "Diritti Non Regali per i Malati Rari" (“Rights not Charity for the Rare Patients”), for the acknowledgement of AHC and of all the unacknowledged Rare Diseases in Italy, that are still without an Exemption Code and without any proper assistance and protections.

In parallel to the afternoon session, also a meeting of the Italian, French and Dutch genetic research groups, affiliated to the European network for Alternating Hemiplegia ENRAH
www.enrah.net was held: as an important result of this meeting the European Consortium for the genetic research on Alternating Hemiplegia, was created, for an increasingly collaborative and large-scale research, with the financial and logistic support of the patients.

Throughout the day, the children and young people of A.I.S.EA had access to a reserved confortable room where they could relax, watch the TV and play with the animation team of the Rangers of Genoa Sestri.

The Workshop was a success, having not only provided an update regarding the current scientific and medical information on Alternating Hemiplegia, but having also stimulated new ideas and initiatives for the progress of the research of its causes and of the care of the affected patients.
In view of this, together with the scientific direction of the workshop, A.I.S.EA decided to publish the proceedings of the Workshop in English, and to diffuse them at the international level.

The next day, Saturday, November 12, the meeting of the European patient representatives was held, to make a point of the situation regarding the development and support of the international research on Alternating Hemiplegia, especially with the forthcoming end of the EU funded project nEUroped - the European Network for Rare Neuropediatric Diseases, which includes also AHC.


In addition to the Italian families of A.I.S.EA , also the representatives of the French, German, Spanish, Irish and Icelandic patients attended the workshop and the meeting of the following morning


From the left, the representative of the Spanish Association AESHA and the president of the French Association AFHA that co-sponsored the Workshop together with A.I.S.EA

At the end of the meeting of the patients, all the participants gathered for lunch at a restaurant in front of the sea, thus enjoying also a fantastic view of the sea finally calm, after the terrible floods that struck the city of Genoa the previous week.


Also a warm and bright sun was enlightening this special moment of final closing of the Workshop, as if to witness the creation of an even closer alliance between all the international stakeholders, patients, doctors and researchers engaged in the fight against Alternating Hemiplegia.



In the Documentation Area of the I.B.AHC public website I.B.AHC public website www.ibahc.org the presentations of all the speakers at the Workshop are available; very soon it will also be possible to view the video-recordings of all these presentations both in Italian and in English.
To access the Documentation Area, you must register and then login to it (Option "Login/Registration" in the Menu "More Information")


On the website of AHCAI - Icelandic association for AHC, its President Sigurdur Hólmar Jóhannesson (Siggi) published a report in English about his participation to the Workshop.
You can read it at this link.

Articolo Articolo  Storico Storico Stampa Stampa
I commenti sono disabilitati.
La malattia
L'Emiplegia Alternante è una grave malattia neurologica molto rara; i casi conosciuti in tutto il mondo sono meno di 500.
L'Emiplegia Alternante si manifesta entro il primo anno di vita e persiste nell'età adulta, provocando una grave disabilità motoria, visiva e psico-intellettiva.
Non si conoscono ancora le cause della malattia e non esiste una cura efficace.

A.I.S.EA
A.I.S.EA Onlus è l'associazione che raggruppa le famiglie italiane con figli colpiti dall'Emiplegia Alternante e gli amici disponibili a dare il loro contributo nella lotta contro la malattia.
I suoi obbiettivi sono:sostenere ed informare le famiglie, diffondere la conoscenza della malattia, promuovere la ricerca di una cura efficace.
A.I.S.EA Onlus opera in stretta collaborazione con il suo Comitato Scientifico e si avvale della consulenza di vari esperti nell'ambito scientifico e socio-sanitario.