THE REGISTRY:

The EUROMAC is a new disease registry for McArdle disease and other rare glyco (geno) lytic disorders presenting with exercise intolerance. The aim of the project is to identify as many patients as possible across all European countries and to collect important clinical and epidemiological data. We hope to create the largest international cohort of people with such rare conditions. Inter-country-cooperation is essential to achieve this goal.

CAN I TAKE PART?

Clinicians working in the EU and patients with rare glyco (geno) lytic disorders presenting with exercise intolerance from the EU are able to participate in this project.

HOW DOES THE REGISTRATION WORK?

Registration is via a secure web platform. Registration process starts with the patients’ initiative. Each patient will be clearly informed by his/her clinician on the registry and its aims, and if patient agrees to participate will have to read the information sheet, in order to start the registration by signing the Patient Informed Consent form which includes the clinician details (full name, address and email). Following this, the clinician will confirm if the patient has a genetic diagnosis of one of the rare glyco (geno) lytic disorder covered by the EUROMAC Registry. The clinician will then collect the signed Patient Informed Consent Form, will upload it in the registry, and will keep the original signed form in his/her files. The clinician will provide with a login anonymised username and password to the patient. The patient will be able to enter personal and non-specialized fields of the registry, while specialized fields can be only filled by the clinician. Data will be anonymised to ensure participants’ protection and only assigned clinicians will have access to their patients’ personal information. However, anonymised data will be accessible for the designated EUROMAC partners. 

WHY IS THE EUROMAC REGISTRY SO IMPORTANT?

We hope to generate a database of patient groups and concerned professionals throughout the EU, including data available in all languages of the participating countries. It will allow us to improve the access of patients to specialized care. The Registry will help to disseminate relevant information to both patients and clinicians. Training courses will be implemented for patients and support groups as well as clinicians.

The EUROMAC website (http://euromacregistry.eu/) also contains a list of scientific centres of excellence for this group of disorders. We hope to increase awareness of these disorders and the website will signpost patients and clinicians to proper diagnosis and management across Europe.

Data on epidemiology and natural history will be generated, supporting knowledge about these rare disorders.

We plan to develop standards of care which will be posted on the website and we hope that the registry will be the gateway to future large scale multi-centre clinical trials.

HOW LONG DOES IT TAKE TO FILL THE EUROMAC FORMS WITH CLINICAL INFORMATION OF A PATIENT?

Depending on the amount of data available for each specific patient, it may take approximately between 30 and 45 minutes to fill the EUROMAC forms with clinical information.

DO I NEED TO BE FAMILIAR WITH ANY SPECIFIC STUDY ASSESSMENT?

Clinicians do not need any specific study for registration. The usual procedure with regards to the patient entry will be mandatory and also available as a specific technical tutorial (available in English) for physician before entering data. A tutorial will also be available for the patients so they can enter their own additional data as set up in the registry.

AND IF THE PATIENT DOES NOT WANT TO TAKE PART IN THE REGISTRY ANYMORE, HOW SHOULD I PROCEED? 

Patients are free to withdraw their authorization at any time without being penalized, being denied treatment, or losing any benefits to which they are otherwise entitled. Requests to withdraw must be made in writing to the physician; he/she will then notify the registry in writing, and the system will delete any data linking to patients’. Patients’ clinical and genetic data will remain in the database for use in anonymised aggregate data reports or statistics. 

The registry is currently funded by the European Union. Collaborators and volunteers both from health services and patient support organisations are welcome.