The United Kingdom National Registry for Myotonic Dystrophy

Brief Title

The United Kingdom National Registry for Myotonic Dystrophy

Official Title

The UK National Registry for Myotonic Dystrophy

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 ( 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 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]

Primary Outcome

Patient questionnaire


Myotonic Dystrophy


Patient Registry

Study Arms / Comparison Groups

 Participants with Myotonic Dystrophy


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

May 2012

Completion Date

December 2021

Primary Completion Date

December 2021

Eligibility Criteria

        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




N/A - N/A

Accepts Healthy Volunteers



Chiara Marini-Bettolo, MD, PhD, 0191 2418640, [email protected]

Location Countries

United Kingdom

Location Countries

United Kingdom

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Newcastle University

Study Sponsor

Chiara Marini-Bettolo, MD, PhD, Principal Investigator, John Walton Muscular Dystrophy Research Centre

Verification Date

June 2019