6 APRIL 2022
A NEW STUDY ON THE ATP1A3-RELATED DISEASES HAS BEEN LAUNCHED INSIDE THE IAHCRC CONSORTIUM
We are now delighted to announce the launch of the new IAHCRC Study VARIA-ATP1A3, led by Dr Katharina Vezyroglou, at the University College of London - Great Ormond Street Children Hospital, UK.
According to Dr. Vezyroglou:
... VARIA-ATP1A3 is a new study spearheaded by the IAHCRC Consortium with which we are trying to expand our knowledge of the rarer ATP1A3 variants by using an online survey to collect the phenotypic characteristics of patients carrying them. To do this as effectively as possible we are currently setting up a large network of collaborators from all around the globe and we are happy to hear from all colleagues interested in participation. ....
If successful, this study will help doctors and researchers give families a more accurate prognosis early on and support patients with appropriate therapies. The knowledge we gain might help us diagnose patients with atypical AHC earlier. Finally, having a registry of patients carrying rarer variants might be valuable for future research into better understanding ATP1A3 protein function, as well as for clinical application of precision medicine approaches as they become available.
The complete description of the VARIA-ATP1A3 Study by Dr. Vezyroglou is available at this link