You can view all of the registration questions in advance via the links below:
- Registry questionnaire for family members registering a deceased patients with myotubular or centronuclear myopathy
Creating your profile
The first step of the registration process is to create your user profile by entering some basic information about yourself (name, date of birth, gender, address) and choosing a password. Your username will be your email address. You only need to create your user profile once, then you can log in again at any time to continue or update your registration, or simply view your data.
When you create a user profile, the first task is to tell us the nature of your registration. You will notice that the following options are available:
- I am registering myself as a patient with myotubular or centronuclear myopathy (select this option if you are a patient aged 18 or over)
- I am registering my child, or a child in my care, as a patient with myotubular or centronuclear myopathy (select this option if you are a parent or guardian of a patient who is aged under 18. You can then add the patient to your profile)
- I am registering as a female carrier of X-linked myotubular myopathy (XLMTM)
- I am registering a deceased family member who had myotubular or centronuclear myopathy
- If you are a parent/guardian of a patient who is aged 18 or over; please ask the patient to create a registration under their own name if they are able.
- A parent/guardian can add one or more patients to their profile, and complete a separate questionnaire for each patient.
When you have activated your profile there is one more important step before we can collect any data from you. We need to make sure that you understand why we are collecting your data, and how we will look after it. Therefore, you will be asked to read some information online and give us your permission (“informed consent”) to accept your data. The informed consent form is automatically created for each patient, and must be completed before registration can continue. This is an online process, but the information is also available as a PDF document, which you can download and print for your own records if you wish. You can also view the patient information sheets and consent forms here:
Consent Information Sheets:
- Information sheet for parents or guardians
- Information sheet for adult participants
- Information sheet for patients under age 16
- Information sheet for family members registering a deceased patient
- Consent form for parents or guardians
- Consent form for adult participants
- Assent form for patients under age 16
- Consent form for family members registering a deceased patient
Filling in the registry questionnaire
When you have completed the consent, the registry questionnaire will appear for you. You can complete it directly on-screen, but please make sure you save each page before you continue to the next. Some of the questions are mandatory, so you will have to complete them before you can move on, and some are optional. You can view your questionnaire in advance by using the links at the top of this page.
Providing your genetic report
Confirmation of the exact genetic mutation that is responsible for your condition is very important for potential treatments, as well as for a better understanding of the disease. During your registration we will ask you to upload a copy of your entire genetic report (if you have it) so that we can verify this information. We also ask you to provide contact details for the hospital or clinic where the genetic test was carried out. This means we can ask your doctor to send us a copy of your report, if you don’t have it.
Updating or removing your details
You can log in to your profile at any time to complete, update or simply view your data. Once a year, you will receive an email asking you to check and update your details; but you are encouraged to inform us about any major changes as soon as they occur (including any change in your contact details). It is possible to withdraw your data from the registry at any time – please contact us if you wish this to be done. (email@example.com)