Information for doctors
If you are a doctor who is not currently involved with the Registry but see patients with myotonic dystrophy then we would encourage you to contact us to discuss how you can be involved.
The UK registry is for patients with Myotonic Dystrophy and collects genetic and clinical data about patients with Myotonic Dystrophy type 1. For research into treatments for Myotonic Dystrophy, it is important that the researchers have precise information about the genetic mutation that causes the condition. This information will be collected by the Registry and validated by experts. In anonymous form, the valuable medical data collected will be made available to selective researchers around the world, thereby accelerating the research into Myotonic Dystrophy type 1.
Additionally, with the advent of clinical trials and research studies for some of these neuromuscular conditions, patients who might be eligible for certain clinical trials or research studies must be readily identifiable. This is what patient registries can offer: they contain accurate and up-to-date information about the patients’ genetic mutations and clinical conditions, as well as their contact details. Without a patient registry for rare conditions such as Myotonic Dystrophy, it could take years to find enough patients for a meaningful trial – and this could significantly delay the development of potential therapies.
In the UK Myotonic Dystrophy Patient Registry this information is both provided by the patient and professionals involved in the patient’s care after full consent is obtained by the patient.