The overall goal of the TREAT-NMD project is to find new ways of treating patients with inherited neuromuscular diseases. Although there is still no cure for these inherited neuromuscular diseases, major progress has been made in recent years towards new therapeutic strategies. Several of these strategies target specific genetic defects, some of which are so rare that only a few patients in the world will have the right profile for a particular clinical trial. The aim of the patient registry is therefore to make sure that these patients can be found and invited to take part in clinical trials quickly and efficiently. Data collated in the registries will also help researchers answer other important questions about how common these diseases are in countries across the world, and will be a useful way of ensuring that patients can be kept informed about the latest information that might be relevant to their disease.

The primary objectives of the registry are to:
• Accelerate and facilitate clinical trials by locating potential research participants quickly and efficiently.
• Facilitate in the planning of clinical trials.
• Assist the neuromuscular community with the development of recommendations and standards of care.
• Characterise and describe the specific neuromuscular disease (NMD) population as a whole, enhancing the understanding of NMD prevalence across Europe.

All patients with a confirmed NMD diagnosis (or pending diagnosis) are eligible for inclusion and diagnosis will be confirmed via genetic testing results.

The registries are collections of data about patients with a specific neuromuscular disease; no experimental intervention is involved. Patients will receive information on the most up to date standards of care relating to their disease and may be invited to participate in relevant clinical trials once their data has been uploaded into the TREAT-NMD global registry. Their data will be updated annually and stored indefinitely, or until they request their data to be removed.

The data will be collected via an online form and will be stored in a central registry on the TREAT-NMD secure server. Initial data collection will include nine ‘mandatory questions’ including demographic information, NMD diagnosis, genetic results and current condition. A further six ‘highly encouraged questions’ focus on family history, ventilation, other registries and more specific information on their disease (Appendix 1).
One of the purposes of the national registry is to define the countries NMD population and since, at the time of enrolment, patients will be at various stages of their disease course and medical care patients will be invited to update their records on a yearly basis again via an online form at this time they will also be given the opportunity to remove their data from the registry.

Patient personal and medical data will be kept for an indefinite period, under the responsibility of the Principal Investigator. This data will be subject to the regulations on data protection (national laws related to EU directive 95/46) and all information received from patients will be treated confidentially. The information will be encrypted and stored on a secure server located at the host institution.

Any future publications based on data collected via the registry will follow strict guidelines with respect to non publication of patient identifiable information.

Third parties wishing to have access to data in the TREAT-NMD Global registry (such as researchers or companies planning clinical trials or conducting research on new therapies) will only have access to anonymous information identifiable only by a code. Before they are granted access even to this anonymous information, they will have to have the approval of an Ethics Committee. Patient data will not be made available to employers, governmental organizations, insurance companies, and educational institutions, or to a patient’s family member or doctor.

Data will be analysed and reported periodically and upon individual requests from approved researchers. Baseline demographic and background variables will be summarised and will be made available to the neuromuscular community via the TREAT-NMD website. Access to more detailed information will be controlled by a password protected area of the website, which will enable restricted levels of access.

For every patient, appropriate patient authorisation/consent will be obtained according to national regulations and other state and local laws relating to medical information before data is submitted to the UK SMA Registry, this authorisation will also enable the encrypted data to be transferred to the TREAT-NMD European Registry. This will be clearly explained to the patient in the patient information sheet which will be given to the patient to read and consider prior to enrolment.

Patients will be invited to register on the TREAT-NMD registry. If they choose to send their personal and medical data to the national registry, it will be stored in accordance with the Data Protection Act 1998 and pseudonymized. Encrypted data will then be transferred to the Global TREAT-NMD registry where international researchers will be able to access it. Researchers are, however, only permitted access to the data if they have approval by an IRB/ethics board. If researchers believe a patient meets a trial’s criteria and might benefit from participation in the trial, they will contact the Principal investigator and /or the National curator. The Principal investigator / National curator will then de-code the data and forward information on the trial to the patient. The patient’s name or any other personal information will not be given to these researchers.

Patient participation is voluntary. The patient may decline to participate or withdraw consent for their data to be stored on the register at any time without prejudice. Patients will be reminded that they may remove their data from the register on a yearly basis, when they are contacted to update their record.