The United Kingdom National Registry for Myotonic Dystrophy
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|ClinicalTrials.gov Identifier: NCT04003363|
Recruitment Status : Recruiting
First Posted : July 1, 2019
Last Update Posted : October 6, 2020
Myotonic dystrophy (dystrophia myotonica - DM) exists in two forms, usually referred to as DM1 (type 1) and DM2 (type 2). Both conditions are genetic disorders but each affects a different gene. DM1 is the most common adult-onset muscular dystrophy, and is thought to affect at least 1 in 8,000 people worldwide.
The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease in the UK. By maintaining a national registry this will help identify potential participants eligible for clinical trials in the future.
|Condition or disease||Intervention/treatment|
|Myotonic Dystrophy||Other: Patient Registry|
The UK DM Patient Registry (https://www.dm-registry.org/uk/) 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:
- Mandatory items (demographic information, clinical diagnosis, genetic test result, current best motor function and wheelchair use) and
- 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 information. The participant is able to select a health care provider from a pre-populated list at registration stage, if they wish to (optional feature). This information is included in the patient information and consent. Relevant R&D approval has been sought.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||785 participants|
|Target Follow-Up Duration:||7 Years|
|Official Title:||The UK National Registry for Myotonic Dystrophy|
|Actual Study Start Date :||May 2012|
|Estimated Primary Completion Date :||December 2021|
|Estimated Study Completion Date :||December 2021|
|Participants with Myotonic Dystrophy||
Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
- Patient questionnaire [ Time Frame: 12 months ]Patient reported myotonic dystrophy clinical diagnosis, symptoms relating to muscle weakness, motor function, medication use, family history and ethnicity.
- Clinician questionnaire [ Time Frame: 12 months ]Clinician reported patient cardiac measures, medication use, respiratory measures and genetic confirmation of myotonic dystrophy.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04003363
|Contact: Registry Project Manager and Curator||0191 firstname.lastname@example.org|
|John Walton Muscular Dystrophy Research Centre||Recruiting|
|Newcastle Upon Tyne, United Kingdom, NE1 3BZ|
|Contact: Registry Project Manager and Curator 0191 2418640 email@example.com|
|Principal Investigator: Chiara Marini-Bettolo, MD, PhD|
|Principal Investigator:||Chiara Marini-Bettolo, MD, PhD||John Walton Muscular Dystrophy Research Centre|