The United Kingdom National Registry for Myotonic Dystrophy

Recruiting

• Conditions: Myotonic Dystrophy
• Interventions: Other: Patient Registry

• Registration Number: NCT04003363
• Lead Sponsor: Newcastle University

Brief Summary

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.

Detailed Description

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. Participants may be referred to the registry by health care professionals, or 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, Cure-DM 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 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.

Study Timeline

• Study Start: 2013-05
• Study First Submitted: 2019-06-25
• Study First Submitted QC: 2019-06-28
• Study First Posted: 2019-07-01
• Status Verified: 2022-11
• Last Update Submitted: 2023-11-28
• Last Update Posted: 2023-12-04
• Primary Completion: 2030-01
• Study Completion: 2030-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 900

Inclusion Criteria

• All patients with a confirmed Myotonic Dystrophy diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results

Exclusion Criteria

• There are no exclusion criteria for the registry

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Participants with Myotonic Dystrophy	Patient Registry	-

Primary Outcome Measures

Name	Time	Method
Patient questionnaire	12 months	Patient reported myotonic dystrophy clinical diagnosis, symptoms relating to muscle weakness, motor function, medication use, family history and ethnicity.
Clinician questionnaire	12 months	Clinician reported patient cardiac measures, medication use, respiratory measures and genetic confirmation of myotonic dystrophy.

Trial Locations

Locations (1)

John Walton Muscular Dystrophy Research Centre; 🇬🇧 Newcastle Upon Tyne, United Kingdom