General information

Background and purpose

TREAT-NMD aims to improve treatment and find cures for patients with neuromuscular disorders. For the treatment of Spinal Muscular Atrophy (SMA), promising new therapeutic strategies are currently being developed which need to be tested in clinical trials. The various national SMA patient registries, as well as the global TREAT-NMD database for SMA, make the recruitment of SMA patients for clinical trials easier by helping to identify suitable patients for particular trials and by enabling them to be contacted and informed quickly when there is a trial they might be interested in.

With the help of the UK SMA patient registry, we can also inform patients about new treatments that might be relevant to them, and give scientists important information about the prevalence of SMA. More information

Target group

This registry is for patients with Spinal Muscular Atrophy (SMA) and is designed primarily for patients resident in the UK or in Ireland. In a number of other countries, registries are either already up and running or are being developed or planned. More information

Advantages for patients

If you are a patient with Spinal Muscular Atrophy (SMA) and register here, we can direct you to clinical trials and research results (such as new treatments) that might be of specific interest to you. In addition, by registering you are helping researchers obtain precise data about the prevalence of SMA, which could be of benefit to all SMA patients. You are also helping achieve equal care for all SMA patients. More information

Required data

One of the most important pieces of information that we ask for in this registry is the patient’s genetic report, which we need a copy of. If you as a patient have already got your genetic report, or if you can obtain it quickly and easily from your doctor or geneticist, then please send a copy to us when you have got it. If it is difficult for you to obtain it yourself, we have to be able to ask your doctor or geneticist for it on your behalf, and in this case you will need to let us know contact details of the doctor/hospital where the genetic test was carried out. However, it is useful for us to have these contact details even if you intend to send us a copy yourself. The self-report online registration also includes a questionnaire; the questions address your genetic mutation and your diagnosis, as well as your physical condition/symptoms including your motor function (ability to sit/walk), how you are fed and your respiratory function (breathing ability). More information

Registration process

Patients can register on their own by clicking “Registration”, which leads them to the web application for the UK SMA patient registry, which is an online (internet-based) self-report registry. A self-report registry is one where patients enter their details themselves, which is often quicker and easier for everybody concerned, but you can of course talk to your own doctor or to the registry staff at any time if you have any questions.

Roughly speaking, the registration process contains the following steps.

In the first step you create your user account. This means that you enter your name, date of birth, gender, email address and choose a password. You only need to create your user account once; using the user name (email address) and password you create now, you can log in again later at any time in order to continue an incomplete registration, update your clinical details and/or contact information or simply view your data at any time, whether your registration is complete or not.

In the next step, you as the user account owner will enter your contact details.

After that you can add patients to your user account. You can only add either yourself or a child of whom you are a parent or guardian.

Next, an informed consent form is automatically created for each patient. The consent forms are personalised, containing the name of the respective patient as well as of the user account owner (if different from the patient). You will be able to agree online. The informed consent is a PDF document, which you can download and print for your own documentation.

If a genetic test has been performed, you then provide us with the contact details where this test was done. If possible, you also send us a copy of your genetic report.

Finally you fill in the questionnaire. If necessary, you can save and interrupt your registration any time, for instance in order to consult a doctor to discuss questions. The registration process is supported by a member of the TREAT-NMD staff called the “national registry curator” who is responsible for checking that the registrations are complete and the genetic information is correct, answering patients’ questions and helping to transfer the information from the national registry to the TREAT-NMD global registry. The registry curator is very happy to hear from anybody with any questions, but as she only works part-time you should be aware that you might not get an immediate response. However, we will get back to you as soon as we can. More information

Data usage

To achieve the highest possible benefit for patients with Spinal Muscular Atrophy (SMA), the patients’ medical (genetic and clinical) data are uploaded from the respective national SMA registry into a global registry: the global TREAT-NMD database for SMA. By querying the global registry, selected scientists can for example find out whether a patient could be suitable for a new therapy or a multinational clinical trial; however, all personal details such as the patient’s name and address are protected and will not be visible to anyone using the global registry, except selected TREAT-NMD staff. If it turns out that a patient might be suitable for a clinical trial, it will be the national registry curators (i.e. us – in the UK) who will “de-code” the data to find out the patient’s contact details and send him/her the relevant information. If the patient is interested in the trial, he/she can then contact the planners of the trial. Please understand that we cannot guarantee that you will be included in the trial even if we send you information about it. The patients’ medical data will also serve as statistical data, for instance to learn about the epidemiology of SMA in Europe or about current standards of care. However, the statistics will also not allow conclusions to be drawn about the identity of the patients. More information

Data security

Your data is stored on a specially secured computer, which can be accessed only by selected people. Information that you enter online via the Internet is encrypted while being transferred, so that it cannot be intercepted.

Operator

The UK SMA registry is operated by the Institute of Genetic Medicine at Newcastle University.