The exact knowledge of the genetic mutation that is responsible for each individual’s Spinal Muscular Atrophy (SMA) is very important for existing and potential new treatments, as well as to help inform a better understanding of SMA. Therefore, we want to make sure that we have got this information right. Since, however, genetic reports can sometimes be difficult to understand, we ask you to upload a copy of the entire report so that we can complete the required data in the patient registry. We also ask you to always provide us with contact details for the hospital or clinic where the genetic test was carried out; this helps us, for example, if you do not have the report and we need to ask your doctor to send us a copy, or if we need some clarification about your genetic condition.
The patient registry collects information about the experience of daily life, activities and quality of life, of individuals with SMA. Also known as patient-reported outcome measures or PROMs, this information is captured in short online questionnaires.
The UK SMA Patient Registry collects medical information from individuals living with SMA. This is a longer questionnaire divided into sections and it collects the TREAT-NMD SMA Expanded Core Dataset.
You are able to save and logout from the patient registry at any time, even midway through the questionnaires. As long as you have pressed ‘Save’, your answers are recorded in the patient registry and you can return to complete the questionnaires at a later time. We ask you to answer all questions as far as you can.
You can view all the questions in advance.