NEWS - YEAR 2019
NOVEMBER 2019
30 November 2019
DATA COLLECTION STARTED FOR THE IAHCRC INTERNATIONAL STUDY OBSERV-AHC
Data collection for the OBSERV-AHC Study (a Study of the IAHCRC Consortium) started last September 1st, in Spain, France, UK and USA, supported by their national patient associations. In Italy, they are still waiting for the approval of their Ethics Committee, but they too are ready to start as soon as they obtain it.
Data will be collected and entered in the IAHCRC-CLOUD Platform by the data-entry clinicians during the neurological visits to the patients organized in collaboration with their supporting patient associations.
The caregivers of the enrolled patients are offered the possibility to record their AHC episodes directly in the IAHCRC-CLOUD Platform, through its Mobile App, so that also their data can be included in the Study.
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Prof. Mohamad Mikati presenting the OBSERV-AHC Study |
Prsentation of the OBSERV-AHC Study at the Family Meeting of the Italian Patient Association in Milan, March 2019 |
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| Family Meeting for the start of the data collection for the OBSERV-AHC Study, organized by the Spanish Patient Association in Barcelona, September 2019 |
Family Meeting for the start of the data collection for the OBSERV-AHC Study, organized by the French Patient Association in Lyon, October 2019 |
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| Working meeting organized on the occasion of the 8th Symposium on ATP1A3 in Disease (Reykjavik, Iceland, 3 October 2019), about the start of the data collection for the OBSERV-AHC Study. Standing, Prof. Mohamad Mikati, Scientific Coordinator of the Study; seated, the data-entry clinicians of the Centers participating in the Study, in France, Spain, Italy, UK and the United States. |
The Mobile App through which a caretaker can record the patient's events in the IAHCRC-CLOUD Platform |
SEPTEMBER 2019
24 September 2019
A NEW SCIENTIFIC PUBLICATION REGARDING AHC
Editorial comment written by the Scientific Coordinator of the IAHCRC Consortium, Prof. Mohamad Mikati, to the article about the epileptology of Alternating Hemiplegia of Childhood that he recently published in the Scientific Journal NEUROLOGY.
"In a study of 51 consecutive AHC patients at Duke University, the Duke team found the following:
- That 63% of that group of AHC patients had epilepsy and that epilepsy was either of focal origin or generalized origin. Specifically, more than half seizures of focal onset and over 1/3 had seizures of generalized onset.
Significance: This is important since the choice of the correct medication depends on the type of seizure and indicates that physicians taking care of AHC patients should determine first the type of epilepsy before deciding on the choice of which anti-epilepsy medication to choose.
- In 14% of the patients, the epileptic seizures even preceded the hemiplegic and dystonic manifestations.
Significance: the occurrence of epileptic seizures should not lead to neglecting the symptoms of AHC which could lead physicians to miss or delay making the diagnosis of AHC.
- EEG studies were helpful but often were normal even after the epileptic seizures had already started.
Significance: If epilepsy is suspected and the EEG is normal, repeating the EEG would be important since there was a lag of about 3-4 years in many patients before the EEG showed epileptic activity.
- In addition to the dystonia and hemiplegia spells most patients with AHC have episodes that can be confused with epileptic seizures consisting of staring and decreased responsiveness without any concurrent epileptic EEG change. These were termed Reduced Awareness Spells (RAS).
Significance: These spells should not be misdiagnosed as epileptic seizures as this would lead to needless use of anti-epilepsy drugs. If RAS are suspected then these can be distinguished by capturing them on video or concurrent video EEG or by their lack of typical manifestations that accompany epileptic seizures.
- For patients whose epileptic seizures did not respond to medications the Duke team found that most of those patient had marked reductions in their seizures using vagal nerve stimulation (VNS).
Significance: AHC patients with drug resistant epileptic seizures need to be considered to receive the VNS therapy
- Twelve of the 32 patients with epilepsy (lightly over 1/3) had one more prolonged severe epileptic seizures (status epilepticus). Four of these regressed neurologically due the status.
Significance: This emphasizes the importance of detecting epileptic seizures and treating them quickly to prevent occurrence of status and the complications that can follow it."
You can read the abstract and download the full article at this link.
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MARCH 2019
27 March 2019
ELECTION OF THE IAHCRC SCIENTIFIC COORDINATORS FOR THE BIENNIUM 2019 - 2020
Last March 27th 2019, during the General Assembly of the members of the IAHCRC Consortium, the results of the election of the Scientific Coordinator and Deputy Coordinator for the biennium 2019 – 2020 were communicated.
Prof. Mohamad Mikati (AHC Clinic at the Duke University School of Medicine, Durham, NC USA) officially settled as Scientific Coordinator of the IAHCRC Consortium, and Prof. Alexis Arzimanoglou (Neurology Department at the University Hospitals of Lyon, France) officially settled as Deputy Coordinator.
Many sincere thanks to both of them for accepting to remain as Scientific Coordinators, to continue their precious action in making the Consortium more stable and more and more effective.
With their scientific coordination and the contribution from all its members, the IAHCRC Consortium will surely play a key role in these next two years, for the progress of the collaborative research on AHC and all the ATP1A3 diseases, towards the final goal of an effective treatment and a better care for the patients.
During the General Assembly, Prof. Mikati gave an update presentation about the OBSERV-AHC Study; the IAHCRC Data Manager Rosaria Vavassori presented an update about the IAHCRC-CLOUD Platform, currently used for the data collection for the OBSERV-AHC Study and for other Studies and Projects already planned.
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FEBRUARY 2019
9 February 2019
THE IAHCRC CONSORTIUM AT THE SYMPOSIUM ON AHC
(Barcelona, 9 February 2019)
We are pleased to forward the invitation to the Symposium on AHC that will take place next Saturday 9th February 2019 in Barcelona, Spain.
The Symposium on AHC, joint to the 6th International Sympsium on Paediatric Movement Disorders (Official Website) , is organized by the IAHCRC Reference Center at the San Juan de Deu Hospital, together with the Patient Association AESHA (Official Website)
Prof. Mohamad Mikati will present the OBSERV-AHC Study that has just been launched, and the IAHCRC Data Manager will talk about the role of the Patient Associations for the development of the research on a disease as rare as AHC.
The main clinical features of AHC will also be presented, by Dr Carmen Fons and other international experts, as well as the current and possible future therapeutic options, including gene therapy.
Many heartfelt thanks to the organizers of this Symposium, for their continued committment to the study on AHC and for their support to the research for the development of an effective treatment.
For more information about the Symposium, please contact This email address is being protected from spambots. You need JavaScript enabled to view it. by Friday October 26 2018.
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Program of the Symposium
On-line Registration
JANUARY 2019
31 January 2019
THE IAHCRC CONSORTIUM AT THE CONVENTION "4WORDS - INNOVATION IN PUBLIC HEALTH"
(Rome, 31 January 2019)
Dr. Rosaria Vavassori will participate as speaker in the Convention "4 Words - Innovation in Public Health" (Rome, 31 January 2019), organized by the National Network FORWARD for the Communication in Public Health.
She will present her experience as parent and professional in the support to the research on a disease as rare as AHC, in particular her recent involvement as Data Manager of the IAHCRC Consortium and Coordinator of Project for the IAHCRC-CLOUD Platform.
Prof. Bruno Dallapiccola, director of Orphanet Italy and Scientific Director of the Research Institute and Hospital Bambino Gesù in Rome, will be co-speaker in the session dedicated to the rare diseases.
For more info and registration, visit the FORWARD Website at this link.
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Program of the Convention
Info and Registration