An international registry of people with A-T, which has been proposed and discussed for many years, is now at the point of being set up. The A-T Society has been awarded a grant of €250,000 by the European Council to fund the creation and management of a registry for three years.
The registry will bring together in one place personal and clinical data of patients with A-T and related conditions from around the world. This will make it an invaluable tool in trying to answer the many questions which still puzzle doctors and scientists about how and why A-T develops in the way it does, and why it varies so much from patient to patient.
The A-T Society applied for the grant as part of the wider application to fund the Erydex clinical trial. To accomplish this an international consortium was formed, which includes EryDel, the company which makes EryDex, and the A-T clinical centres at Johns Hopkins, Tel-Aviv and Frankfurt universities.
The registry will be managed by the A-T Society, and located in the UK, although the data it holds and questions relating to its use will be overseen by an international scientific advisory board.
As A-T is so rare, and because it can vary quite markedly from one patient to another, it is very difficult for one centre to see enough patients repeatedly to build up statistically-reliable data on how A-T affects people and how it develops over time. Creation of the registry, which will allow data to be added over time, will finally give us the ability to compare, in a systematic way, the symptoms of hundreds of different individuals. It will also make it much easier to find people for future studies or clinical trials.
It is envisaged that there will be two parts to the database. The main body of data will be in-put by doctors, which will ensure that it is consistent and scientifically reliable. However, there will be another part where patients who are on the register can add some data of their own. We will be consulting families shortly to see what information they would like to see and willing to share.
The data stored centrally will be anonymised, and identifiable data will only be visible to the person or centre that submits it.
The database will be built to ensure both that it is able to interface with existing databases containing information on people with A-T, such as that of the European Society for Immuno-deficiencies, and that it is very easy to add fields or resources in future. We are already discussing the possibility of linking it to libraries of tissue samples and MRI images and potentially to genomic data, too.
Mike Detsiny, the Society’s Chairman said: ”This is a fantastic step forward for A-T research and for people living with A-T. It is another example of the success of the A-T Society’s strategy of bringing together people and organisations internationally to drive forward A-T research. With the Erydel trial and the patient registry, it looks like 2016 could mark an important milestone on the road to defeating A-T.”
Dr Mohnish Suri, Director of the A-T Centre at Nottingham City Hospital warmly welcomed the news. He said: :This is an excellent opportunity to bring together in one place genetic and clinical information about a large number of patients with A-T. This will enable clinical teams looking after individuals with A-T to understand the full clinical and mutational spectrum of A-T and it will facilitate research into new treatments for this condition.”