NEWS YEAR 2023
20 SEPTEMBER 2023
A NEW ARTICLE ABOUT THE OBSERV-AHC STUDY METHODOLOGY HAS BEEN PUBLISHED IN THE JOURNAL OF CHILD NEUROLOGY
After the article about the Event Calendar and E-Diary sub-project published on the European Journal of Pediatric Neurology, another great article has just been published on the Journal of Child Neurology about the OBSERV-AHC Study, the natural history and therapy study on AHC.
The article describes the procedures developed for a multicenter prospective data collection that can be used in future controlled trials for AHC and potentially for many other rare neurodevelopmental diseases.
Many thanks and congratulations to all the IAHCRC centers that are participating in the OBSERV-AHC Study, a milestone for the progress of research on AHC to the final step of a therapeutical trial for an effective treatment.
Many heartfelt thanks to all the patient associations that are supporting the OBSERV-AHC Study, as well as the IAHCRC-CLOUD Platform hosting the centralized OBSERV-AHC Study Database.
This article about the OBSERV-AHC methodology is available at this link.
Read the synopsys of the article recently published on the Journal of Child Neurology about the methodology of a...Pubblicato da Iahcrc International Consortium su Sabato 30 settembre 2023
3 AUGUST 2023
A NEW ARTICLE ABOUT THE IAHCRC E-DIARY PROJECT HAS BEEN PUBLISHED IN THE EUROPEAN JOURNAL OF PEDIATRIC NEUROLOGY
The IAHCRC E-DIARY is a sub-project of the larger OBSERV-AHC Study, the observational study on NATURAL HISTORY and THERAPY for AHC, carried out by ten member centers of the IAHCRC Consortium in the US and in Europe.
The E-DIARY project pursues one of the OBSERV-AHC objectives, i.e. the definition and validation of procedures for multicentred prospective data collections that could be used in future controlled trials.
Thanks to the E-Diary, data about AHC spells in patients are recorded by trained caretakers in their Event Diaries on the IAHCRC-CLOUD Platform through the E-Diary App for mobile phones and PCs.
Data from the patients’ Event Diaries are then validated and automatically included in the OBSERV-AHC Study Database on the Platform, to be integrated with the patients’ data collected by their clinicians and thus achieve the main OBSERV-AHC objectives about natural history and therapy for AHC.
Using the same E-Diary, AHC spells data recorded on the IAHCRC-CLOUD Platform could be successfully used in the future for further clinical studies on AHC and for therapeutical trials.
The IAHCRC E-Diary could be also used in clinical practice, to monitor the course of AHC spells in patients and adjust their treatment accordingly, and its model could be potentially adopted for other rare and complex disorders.
The article about the E-DIARY project is available at this link
GREAT NEWS!! A NEW ARTICLE ABOUT THE IAHCRC E-DIARY PROJECT HAS BEEN PUBLISHED IN THE EUROPEAN JOURNAL OF PEDIATRIC...Pubblicato da Iahcrc International Consortium su Martedì 8 agosto 2023
6 JULY 2023
A NEW STUDY ON AHC HAS BEEN LAUNCHED INSIDE THE IAHCRC CONSORTIUM
We are now delighted to announce the launch of the new IAHCRC Study KETO-AHC, led by Dr Carmen Fons and Dr. Jennifer Anticona, at the Hospital San Juan de Deu, Barcelona, Spain.
According to Dr. Fons and Dr. Anticona:
... The KETO-AHC Study focuses on efficacy of Ketogenic Diet (KD) in patients affected by Alternating Hemiplegia of Childhood (AHC). Based on the potential mechanisms of action of this therapeutic option, in fact, we hypothesize that in AHC, KD could have impact in several pathways: (i) the effect on transient glucose hypometabolism in AHC, (ii) reduction in glycolytic ATP production might enable the opening of K+ATP channels and thus could reduce the electrical excitability of central neurons.
Specific treatments are still lacking for AHC and currently, therapeutic strategies for symptomatic relief or preventing the recurrence of paroxysmal phenomena are only available but with relative efficacy. Flunarizine is the most common treatment used in AHC. It has demonstrated a long-term safety but partial effectiveness. In the literature, some studies and case reports have described the use of KD in AHC but the evidence of the response to this treatment is still poor based on anecdotal cases.
All research centers are invited to participate. The IAHCRC membership is NOT mandatory for participation.
14 JUNE 2023
DATA COLLECTION FOR THE OBSERV-AHC STUDY HAS BEEN COMPLETED
The three-years data collection for the OBSERV-AHC Study has been completed and the analysis has started by the statistics team at the Duke University, Durham, NC, USA.
The OBSERV-AHC Study, on natural history and therapies for AHC, is led by Professor Mohamad Mikati, Scientific Coordinator of the IAHCRC Consortium, and is managed by Dr. Rosaria Vavassori, also in her role of Project Coordinator and Data Manager for the IAHCRC-CLOUD Platform.
Baseline and two-years follow up data have been collected in the Platform for more than 120 patients by the participating centers in the US and in Europe, about paroxysmal and non-paroxysmal features, about neuropsychological and behavioural features, about treatment and genetics.
The results of the OBSERV-AHC Study pilot phase (COURSE-AHC Study) were published in 2021 (read the News) and the articles about the e-diary sub-project and the OBSERV-AHC methodology have been recently approved for publication. After a pilot phase as an OBSERV-AHC sub-study, the KETO-AHC Study has just been launched as an official IAHCRC Study, about the efficacy of ketogenic diet in AHC and an article about the results of the pilot study about the efficacy of CBD (CBD-AHC Study) is in preparation for publication.
9 MAY 2023
THE INFORMATION LEAFLET AND PATIENT JOURNEY FOR AHC ARE NOW ALSO AVAILABLE IN ITALIAN ON THE WEBSITE OF THE EpiCARE NETWORK
The Information Leaflet and Patient Journey for AHC are now also available in Italian on the official website of EpiCARE-ERN, the European Reference Network for Rare and Complex Epilepsies.
The two documents were originally developed in English by the AHC patient representatives member of the Patient Advocacy Group (ePAG) of EpiCARE (read the News).
The aim of the Patient Journey and of the Information Leaflet for healthcare professionals and for families, is to provide homogeneous and scientifically sound information about diagnosis, treatment and management of AHC, for all patients in Europe and worldwide.
The Information Leaflet and Patient Journey for AHC, originally developed in English by the AHC patient representatives...Pubblicato da Iahcrc International Consortium su Martedì 9 maggio 2023
1 MARCH 2023
AN ARTICLE ABOUT OXYGEN THERAPY AS A NEW TREATMENT OPTION FOR AHC WAS PUBLISHED ON MOVEMENT DISORDERS
According to Dr. Eleni Panagiotakaki,
.... this result with the use of oxygen therapy for dystonic attacks in AHC, although encouraging is still preliminary.
More knowledge and experience are needed, and if possible a systematic trial on this, before concluding that it could be a generalized practice to use ...
Families interested in testing this new therapeutic option, are recommended to do so under the supervision of their AHC referral neurologists. The full article is available at link.
According to Dr. Eleni Panagiotakaki, "this result with the use of oxygen therapy for dystonic attacks in AHC, although...Pubblicato da Iahcrc International Consortium su Venerdì 31 marzo 2023
4 FEBRUARY 2023
AHC AND FOUR OTHER RARE AND COMPLEX EPILEPSIES ARE DESCRIBED BY THE PATIENT ADVOCATES OF THE EpiCARE NETWORK ON THE EUROPEAN JOURNAL FOR MEDICAL GENETICS
The article published on the European Journal for Medical Genetics highlights not only the specific clinical manifestations of each rare and complex epilepsy, and AHC in particular, but also the needs common to all patients and the common actions to be undertaken in sinergy with the experts, for the progress of research of an effective treatment and the development of a better and equitable healthcare. The section about AHC has been written by our Data Manager Rosaria Vavassori, member of the PAtient Advocacy Group (EPAG) of the European Reference Network EpiCARE-ERN, and by Katherine Behl, Vice President of the patient association AHC-UK. Unfortunately, the full article is not available as open access any longer but you can read the introduction and conclusions, and some section snippets at this link.
Five rare and complex epilepsies are described by the members of ePAG EpiCARE, in this article published on the European...Pubblicato da Iahcrc International Consortium su Sabato 4 febbraio 2023