OTHER STUDIES

OTHER COLLABORATIVE STUDIES OF THE IAHCRC MEMBER CENTERS

COURSE-AHC Study
The  COURSE-AHC Study aims to define standard scales to evaluate the progressive course of AHC and possibly predict the changes in its severity with age. Such scales will be usable for larger studies of AHC to further refine the current knowledge of the course of AHC and of any other additional potential predictors of outcome over longer periods of time.
The study is led by Prof. Mohamad Mikati at the IAHCRC member Center of the Duke University in the USA, with the partcipation of the European IAHCRC member centers in Italy, Spain, France and UK. It has been published in Brain Communication last June 2021 (read the News).

TREAT-AHC Study
The MOME-AHC Project (Study of the Molecular Mechanisms in AHC) was intiated in 2013 by Prof. Fiorella Gurrieri and Dr. Danilo Tiziano at the IAHCRC member Center of the Università Cattolica in Rome, Italy. The first two phases were carried out in the next years, to develop a human cellular model of AHC and to identify signal transduction pathways disrupted by ATP1A3 mutations. The third ongoing phase, denominated TREAT-AHC Study, is aimed to develop a putative pharmacological correction of the cellular phenotype.
The MOME-AHC Project has always been funded by the Italian Association A.I.S.EA since its start and, more recently, also by the Spanish Association AESHA. 
Moreover, the TREAT-AHC Study presented at the 2019 edition of the Spanish Call "La Marató de TV3" by Prof. Danilo Tiziano and three IAHCRC clinical centers in Italy, Spain and France, has just been approved for funding. However, more funds will be needed to complete the preclinical phase, carried out in collaboration with the IAHCRC member Center led by Prof. Mohamad Mikati at the Duke University in the USA, and to bring candidate compounds to the treatment of AHC into the clinic.

CBD-AHC Study
The CBD-AHC Study led by Prof. Mohamad Mikati (Duke University, Durham, NC, USA) as an OBSERV-AHC  sub-study, is aiming to determine the efficacy of CBD in AHC. The Study, carried out in a small coohort of patients from the USA and France, is a pilot study precursor to a large-scale prospective study within the IAHCRC Consortium. Its results have been published in the European Journal of Pediatric Neurology at this link.

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last update 28 February 2024