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UK Myotonic Dystrophy Patient Registry

dataset
posted on 15.04.2021, 12:33 by Ben Porter, Chiara Marini-Betollo

The UK Myotonic Dystrophy Patient Registry aims to recruit any individual, from anywhere within the United Kingdom, with a diagnosis of myotonic dystrophy who may be interested in becoming involved in future planned clinical trials. Participants may be referred to the registry by health care professionals, genetic testing/laboratory centres who are aware of the registry. Alternatively, a participant may have discovered the registry via promotional activities or by their own online searches. After completing the consent process, participants are able to enter information on to the registry platform (note all forms are also available offline as well). This is an ongoing database and all participants will invited to update their information on an annual basis.

The registry is sponsored by Muscular Dystrophy UK and the Myotonic Dystrophy Support Group.


The database is divided into two main sections:


  1. Mandatory items (demographic information, clinical diagnosis, genetic test result, current best motor function and wheelchair use) and
  2. Highly encouraged items (severity of muscle symptoms, cardiac status, respiratory function, digestion, cataracts, and fatigue, ethnic origin and data on involvement with other registries)

The database is designed to be self reporting, however where specialised clinical or genetic information is required, the neuromuscular specialist in charge of the participants care can be invited to provide some additional clinical and genetic information. The participant is able to select a health care provider from a pre-populated list at registration stage, to complete this. This information is included in the patient information and consent.

Funding

MC9/1064/9 - Muscular Dystrophy UK

History

UoA

Clinical Medicine