The International A-T registry is for all patients with a diagnosis of ataxia-telangiectasia, ataxia oculomotor apraxia type 1, ataxia oculomotor apraxia type 2, AT-like disorder, Nijmegen breakage syndrome or Nijmegen breakage syndrome-like disorder.
The registry collects basic information about each patient, their genetics and their physical features and then collects data regarding all the main areas affected by the condition. Baseline information is recorded when the patient is first added to the registry, and after this can be added each time the patient is seen again, in a series of ‘visits’ which will provide longitudinal data on the development of the condition.
Because the registry has a primary research purpose, improve our understanding of the natural histories of each condition, the risk is always that we ask for too much data and people are unwilling to enter it. We have tried to strike a balance between a need for detail and usability in the data set we have chosen, and we hope that we have got this right.
Nevertheless, we recognise that entering data will require some effort on the part of centres. We would therefore ask you to remember:
In order to put information about your patients with A-T or related conditions onto the database, you will need to register with us, either as an individual or as an institution. The Registry administrator will set you up as a centre and you will then be given password-protected access to load, update and review data on all your patients.
You and members of your team to whom you have granted access will be able to see the data on your patients, but not those put in by other centres. While most of the data will be stored centrally on the Registry database, the identifying data (e.g. name, date of birth, address) will not be stored centrally, and thus will be known only to you and your team. This means that the data held centrally is anonymised and thus avoids many of the data protections issues that would otherwise arise.
We do require that you get written consent from all patients whose data you put on the registry, or from their parents, guardians or carers, depending on their age and competence. In the UK, young people may normally give consent for medical treatment for themselves from the age of 16. This may vary in different countries and it is up to each centre to ensure that they have the appropriate consent for their patients. We have produced an information sheet for adults and one for children. These are available on the website here. They will be translated into different languages as the project develops. If you require a translation into a particular language, please contact firstname.lastname@example.org.
The registry curator will set up an account for you. From your account you will be able to see all the patients that have nominated you as their doctor. All patients will be able to see you listed when they register. After the initial set up you can login to the online portal at any time.
You will be asked to complete some genetic information about your patients. You only need to do this once for each patient.
If you do not recognise a patient that has nominated you as their specialist then please contact us.
If for example, you would like a physiotherapist or nurse to enter the details on your behalf this can be arranged. Or you can arrange this internally as you see fit.
We would recommend the doctor’s name remain visible to patients when registering.
The registry has received full ethical approval from South Central – Berkshire Research Ethics Committee (17/SC/0075). The situation in other countries with vary from country to country.
We would encourage you to discuss the A-T Patient Registry with any A-T patients that you see. We can also provide leaflets for distribution at clinics. Please contact the registry curator who will arrange for some to be sent to you.
If you are a doctor who is not currently involved with the Registry but see patients with A-T or other related conditions then we would encourage you to contact us to discuss adding you to the Registry.