NEWS
November 2013
THE PROJECT "I.B.AHC BIOBANK AND CLINICAL REGISTRY FOR ALTERNATING HEMIPLEGIA" PRESENTED AT THE WORLD FORUM "HANDS ON: BIOBANKS"
ORGANIZED BY THE INTERNATIONAL NETWORK OF BIOBANKS BBMRI
The I.B.AHC Project was presented at many International Congresses in the past years;
recently it has been present as a poster at the Second Symposium on ATP1A3 in disease (Rome, 23 - 24 September 2013)
www.symposium-atp1a3.tk.
Now the Project will be presented also at the World Forum “Hands on: Biobanks 2013”
organized by the International Network of Biobanks BBMRI
in The Hague, The Netherland, on 21 – 22 November 2013, www.handsonbiobanks.org.
Filippo Franchini, I.B.AHC Project Manager and member of the Board of Directors of A.I.S.EA, will present a poster about the I.B.AHC Project;
he is also invited speaker at the Forum.
From this link
the poster can be downloaded.
October 2013
THE PROJECT AHC-MOME-IT HAS BEEN LAUNCHED, TO STUDY THE MOLECULAR MECHANISMS OF AHC
The aim of this Project is to create an "in vitro" model of the mutations causing AHC,
in order to study the molecular pathogenesis of the disease and test some candidate compounds for the pharmacological treatment of AHC.
The Project is carried out by the Institute of Medical Genetics of the Catholic University in Rome, with the direction of Professor Fiorella Gurrieri
and the participation of the I.B.AHC Consortium.
The Italian Association A.I.S.EA and the Spanish Association AESHA are funding the first step of the Project.
Julio 2013
SEGUNDO SIMPOSIO INTERNACIONAL
"ATP1A3 IN DISEASE: GENOTYPE/FENOTYPE CORRELATIONS, MODELLING AND IDENTIFICATION OF POTENTIAL TARGETS FOR TREATMENT"
(Roma, 23 - 24 Septiembre 2013)
El Primer Simposio Internacional sobre el Gen ATP1A3 en la Enfermedad (Bruselas, Diciembre 2012)
enlace,
fue un verdadero éxito y permitió a los investigadores y pacientes participantes para fortalecer su alianza
y para iniciar nuevas colaboraciones rentables para los nuevos proyectos de investigación sobre AHC,
explotando los conocimientos recién adquiridos sobre la causa genética de la enfermedad
enlace;
las actuaciones de este primer simposio se publicarán en breve.
El Segundo Simposio Internacional sobre le Gen ATP1A3 en la Enfermedad
tendrá lugar en Roma los días 23-24 Septiembre 2013,
organizado por el Servicio de Genética Médica de la Universidad Católica de Roma y por A.I.S.EA,
en colaboración con la Universidad de Duke y con el resto de las principales asociaciones de pacientes extranjeras.
El objetivo del simposio es dar a conocer los nuevos avances de la investigación,
para promover la colaboración internacional y de reclutar a nuevos equipos de investigadores en el estudio de la AHC.
En el Sitio Web Oficial del Simposio www.symposium-atp1a3.tk,
el programa preliminar y toda la información científica y logística están disponibles.
Los formularios para el registro y la presentación de resúmenes para las Sesiones "Posters" and "Breaking News" también están disponibles.
Desde este enlace
puedes descargar el folleto completo del evento.
March 2013
INTERNATIONAL COLLABORATIVE STUDY GPC-AHC ON THE GENOTYPE-PHENOTYPE CORRELATION IN AHC,
WITH THE INCLUSION OF ALL THE PATIENTS AVAILABLE IN I.B.AHC
The aim of the GPC-AHC Study is to determine if the different mutations (genotype)
found in the AHC patients can statistically predict their different clinical pictures (phenotype),
in terms of severity and types of symptoms.
The ultimate goal is to have a better idea of the defective malfunctioning caused by the AHC-mutations in the neurons
in order to identify a possible group of candidate compounds as the most effective to correct such defect.
A large case-series (>100 patients) is essential for the success of this kind of studies, based on the statistical analysis of the data.
The GPC-AHC Study is carried out by International Consortium for the Research on ATP1A3 in AHC,
composed by many National Clinical Reference Centers, by Genetic and Molecular Research Laboratories, by Patient Associations.
For Italy, A.I.S.EA and the I.B.AHC Consortium are participating, thanks to which the clinical and genetic data of more than 40 patients
available in I.B.AHC will be included in this Study.
The preliminary results of the correlation analysis will be presented at the 2nd Symposium on ATP1A3 in disease
(Rome, 23 - 24 September 2013), www.symposium-atp1a3.tk);
the definitive results will be published on a peer-review scientific journal.
Professor Alexis Arzimanoglou, at the University Children's Hospital of Lyon, is the Coordinator of the Study;
Rosaria Vavassori, of the Patient Association A.I.S.EA, is the project and data manager.
JULY 2012
THE PRIMARY GENE FOR ALTERNATING HEMIPLEGIA HAS BEEN FOUND!!!
The discovery has been possible thanks to a large collaborative study, involving clinical centers and genetic laboratories in Europe and America,
with the financial and logistical support of the patient organizations in Italy, France and the United States.
The identified gene is ATP1A3 and encodes a protein functioning as sodium-potassium ion pump at the neuronal level.
The gene discovery has been made possible through
the application of the exome/genome sequencing, a very new technology that has recently revolutionized the research for genes responsible of many rare diseases.
All the details of the discovery have just been published by Nature Genetics, a prestigious international scientific journal.
Throw the initial sequencing of the exome of 7 patients the gene was identified by the researchers of the Duke University, and then, thanks to an impressive
collaborative effort internationally sponsored and supported by the three main patient associations (in Italy, France and USA),
the clinical centers and genetic laboratories from 13 different nations gathered to study further 95 patients, bringing to confirm the presence of causative mutations in the gene ATP1A3 in more than 75% of them.
They are all de novo mutations, that’s to say present only in the patients and absent in all their parents.
For this collaborative study,
A.I.S.EA provided the most extensive follow-up case series, contained in the Biobank and Clinical Registry I.B.AHC.
Abstract of the article published by Nature Genetics De novo Mutations cause Alternating Hemiplegia of Childhood link
Press Release of the association A.I.S.EA Onlus link
Press Release of the Duke University, whose researchers leaded the study
link
November 2011
THE I.B.AHC PROJECT PRESENTED AT THE INAUGURAL CONFERENCE OF ESBB
The project "I.B.AHC Biobank and Clinical Registry for Alternating Hemiplegia" has been presented at the Inaugural Conference of
ESBB - European, Middle Eastern and African Society for Biopreservation and Biobanking www.esbb.org,
that was held in Marseille, 16-19 November 2011.
Filippo Franchini, Director of A.I.S.EA and I.B.AHC project manager described how moving from the outcomes already obtained with I.B.AHC
and the situation established by other European Associations on AHC, a network of existing biobanks and clinical registries on AHC
can be obtained.
For further details, consult the presentation at this link.
February 2011
A NEW GENETIC STUDY BASED ON AN INNOVATIVE TECHNOLOGY WILL USE THE CINICAL DATA AND THE BIOLOGICAL MATERIAL KEPT IN I.B.AHC
The study "Exome Sequencing of Patients affected by Alternating Hemiplegia",
presented by Prof. Fiorella Gurrieri and Prof. Giovanni Neri of the Clinics of Medical Genetics at the University Cattolica in Rome, has
been definitively approved by the Scientific Committee and by the Board of Directors of A.I.S.EA.
The Study has been granted the access to the I.B.AHC Clinical Registry and Biobank and the financial support of the association (15.000 Euros).
Due to the high cost of the exome sequencing, that is a very new technique of genetic analysis,
the DNA samples of only four AHC patients will be sequenced in this first preliminary phase of the Study.
The four patients will be selected by Pr Gurrieri in collaboration with Dr De Grandis and Giannotta, datamanagers of the I.B.AHC Registry,
on the basis of their clinical and dysmorphic features.
January 2011
A NEW GENETIC SCREENING WILL STUDY THE SAMPLES RECEIVED FROM THE I.B.AHC BIOBANK
The study "Causative Role of mutations of the gene Protocaderine (PCDH19) (Xq22) in AHC patients",
presented by Dr Nicola Specchio, Prof. Federico Vigevano, and other authors of the Neurology Division and the Unit of Biomolecular Medicine
of the Scientific Institute and Child Hospital "Bambino Gesù" in Rome, has
been approved by the Scientific Committee of A.I.S.EA. As soon as they are ready to start,
they will receive the needed material from the I.B.AHC Biobank.
January 2011
A NEW STUDY ON THE QUALITY OF LIFE OF PATIENTS AFFECTED BY AHC
The study "Alternating Hemiplegia: a study of the paroxysmal episodes" has
been launched and will last until December 2012. The study is based on the data
collection by the patients about their daily episodes directly in the on line
I.B.AHC Clinical Registry. The Study is coordinated by A.I.S.EA Onlus and funded by A.I.S.EA and by AFHA
www.afha.org, the French Association for Alternating Hemiplegia.
All the Italian and European patients are kindly invited to participate. To apply to the
study and to download all the related documents for the participation(Information
Letter, Consent Form, User Manual), please
visit the documentation area of this portal (Login/Registration in the
Family/Patients MenuButton).
September 2010
A NEW GENETIC SCREENING ON THE SAMPLES OF THE I.B.AHC BIOBANK
The study "Research of mutations in the GLUT-1 (SLC2A1) gene in the patients affected by
Alternating Hemiplegia" has been presented by Pr. Federico Zara and Pr.
Edvige Veneselli, of the Scientific Institute G. Gaslini in Genova, and has been
approved by the Scientific Committee of A.I.S.EA Onlus. The DNA samples
received from the I.B.AHC Biobank will be screened.
June 2010
THE I.B.AHC PROJECT WAS PRESENTED AT THE STAKEHOLDERS' FORUM
OF THE NETWORK BBMRI - EUROPEAN BIOBANKING AND BIOMOLECULAR
RESOURCES INFRASTRUCTURE
On June 9th, 2010, in Brussels, at the BBMRI
Stakeholders Forum, Filippo Franchini, on behalf of A.I.S.EA, presented
the I.B.AHC project as a "Case Study of Integration of
Biobank and Clinical Registries".
The presentation was very successful and can be downloaded directly from the
BBMRI website, at this link
(session
2B - Patient Stakeholders Workshop).
Aprile 2010
REPORT OF THE I.B.AHC VIDEO-SESSION FOR THE VALIDATION OF THE
DIAGNOSIS
The report of the last I.B.AHC video-session for the validation of the
diagnosis, written by Dr. Elisa De Grandis, is available in the documentation
area of this website. To access the documentation area, the login is necessary.
In case of first access, you must register first.
The video-session was held on Saturday 30 January 2010, at the Clinics
of Neurology of the University "La Sapienza" in Rome.
5 new possible cases of Alternating Hemiplegia were presented and discussed
by all the participating physicians, but the diagnosis of only four of them were
confirmed.
December 2009
NEXT VIDEO-SESSION FOR THE VALIDATION OF THE DIAGNOSES
I.B.AHC
Le next Video-Session for the Validation of the Diagnoses in I.B.AHC will be
held on Saturday, 30 January 2010, 13.30 - 17.30.
The venue will be at the Clinics of Neurology of the University "La Sapienza" in Rome, after the closing of the
Multi-Centric Meeting of the LICE - the Italian League against
Epilepsy.
The Video-Session will be chaired by the members of the Scientific Committee
of A.I.S.EA and it is open to all the specialist treating physicians
collaborating to the entering of their patients in I.B.AHC.
Four new cases have already been proposed for the collegial discussion and
validation: all the physicians wishing to present their new cases during the
video-session, and then to collaborate to their enrollment in I.B.AHC, are
kindly invited to write to info@ibahc.org as
soon as possible.
A.I.S.EA will be glad to offer the travel and one night stay in Rome to all
the speakers presenting their new cases.
Here it is the final
program (in Italian).
December 2009
THE NEW I.B.AHC PROTOCOL HAS BEEN APPROVED
The Ethic Committee of the Scientific Institute "E. Medea", hosting
the I.B.AHC Biobank, approved the new protocol for I.B.AHC - Biobank and
clinical Registry for AHC. The new Consent Forms for the participation of the
patients and their treating physicians will be available soon in the
documentation area.
A.I.S.EA has also signed the new Agreement with the Director of the Institute,
for the continuation of the I.B.AHC Biobank, according to the changed terms in
the new protocol.
April 2009
A NEW GENETIC STUDY HAS JUST STARTED USING THE MATERIAL
IN THE I.B.AHC BIOBANK
The study has been presented by Pr Fiorella
Gurrieri of the University Cattolica in Rome and has been approved
by the Scientific Committee of A.I.S.EA Onlus.
Her request to use the DNA samples in the I.B.AHC
Biobank has also been approved by the Ethic Committee of the
Institute "E. Medea".
November 2008
I.B.AHC VIDEO-SESSION FOR THE VALIDATION OF THE DIAGNOSES
The yearly video-session for the diagnosis validation of
the new cases to insert in I.B.AHC has been organized in Naples, 13 November
2008, joint to the National Congress of the Italian Society of Paediatric
Neurology SINP (leaflet).
Four cases has been presented by their treating physicians
but the diagnosis for only two of them has been validated.
The given presentations will be available soon in the
documentation area.
October 2008
ACTIVATED THE NEW REGISTRATION FUNCTIONALITY FOR THE I.B.AHC
PORTAL
The registration allows to login to the documentation area
of the portal, in a private space, and to download the Consent Forms for the
enrolment in I.B.AHC (for patients and physicians), the forms for the usage
request to I.B.AHC (for researchers) and other forms and documents regarding
I.B.AHC. The documentation area will be available soon.
October 2009
THE ICF STUDY FOR ALTERNATING HEMIPLEGIA USING THE DATA
IN THE I.B.AHC CLINICAL REGISTRY HAS BEEN COMPLETED
The study analyzes the health conditions and the
level of functioning and disability for a group of AHC patients,
using the standard ICF classification tool developed by the World Health Organization WHO. Dr Borgatti, director of the Neuro
Rehabilitation Department at the Scientific Institute E. Medea,
Bosisio Parini (LC), is the coordinator of the project.
The patients participating to I.B.AHC were
included in this study and the access to the I.B.AHC Clinical
Registry was granted to complete the neurological assessment
for each participant.
The results of the study will be published soon
on an international publication.
August 2008
A NEW EUROPEAN GENETIC RESEARCH USES THE MATERIAL IN THE
I.B.AHC BIOBANK
The request from Dr Kathleen Freson and Chris Van
Geet, of the Leuven University (Belgium), to use some samples
in the I.B.AHC Biobank for their genetic research on AHC has been
approved.
Their laboratory collaborates with the Clinical
Center of the Leuven University, whose referring physician is Pr
Paul Casaer, member of ENRAH, the European Network for Research on
AHC.
June 2008
A NEW ITALIAN GENETIC RESEARCH HAS STARTED USING THE
SAMPLES IN THE I.B.AHC BIOBANK
Pr Bruno Dallapiccola, director of the CSS-Mendel
Institute in Rome, presented the request to use the samples in the
I.B.AHC BIOBANK for a genetic research on AHC. The request has been
approved by the Scientific Committee of A.I.S.EA Onlus and by the
Ethic Committee of the Institute E. Medea.
March 2008
THE PROJECT "I.B.AHC on LINE" HAS STARTED
The objectives of the project are to review the I.B.AHC
protocol and to build the new on-line Clinical Registry, accessible through
Internet in a secured way.
The project is funded and coordinated by A.I.S.EA Onlus
for a two years duration.
September 2007
THE ANALYSIS OF A NEW GROUP OF CANDIDATE GENES HAS BEEN
COMPLETED IN THE DNA SAMPLES OF THE I.B.AHC BIOBANK
The research, carried out by Dr Maria Teresa
Bassi at the Scientific Institute E. Medea, Bosisio Parini (LC), was
funded by A.I.S.EA Onlus. The individual results of the
analysis have already been communicated to the patients and entered
in the I.B.AHC Clinical Registry with their consent.
May 2007
THE ANALYSIS OF A GROUP OF CANDIDATE GENES HAS BEEN
COMPLETED IN THE DNA SAMPLES OF THE I.B.AHC BIOBANK
The research was realized by Drs Giorgio Casari and
Filippo Martinelli Boneschi, of the DIBIT Laboratory at the Scientific Institute
San Raffaele, Milan, and it is based on the clinical similarities between
Alternating Hemiplegia and Hemiplegic Migraine.
March 2007
I.B.AHC VIDEO-SESSION FOR THE VALIDATION OF THE DIAGNOSES
The yearly video-session for the diagnosis validation of
the new cases to insert in I.B.AHC has been organized in Rome, 24 March 2007,
joint to the National Meeting of the A.I.S.EA Families and Doctors.
Three cases has been presented by their treating
physicians but the diagnosis for only two of them has been validated.
A case of Benign Nocturnal Alternating Hemiplegia (BNAHC)
has also been presented and the diagnosis has been confirmed.
March 2006
THE CLINICAL STUDY OF THE MOVEMENT DISORDERS
CHARACTERISTIC FOR AHC, USING THE DATA IN THE I.B.AHC CLINICLA REGISTRY,
HAS BEEN COMPLETED
The study, realized by the Scientific Committee
of A.I.S.EA Onlus, with the contribution of Dr Nardo Nardocci,
Institute c. Besta - Milan, and of Pr Emilio Fernandez
Alvarez, Hospital San Juan de Deu - Barcelona, is based on the
analysis of the video-recordings collected in the I.B.AHC Clinical
Registry. The results are yet to be published.
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