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The United Kingdom National Registry for Myotonic Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04003363
Recruitment Status : Recruiting
First Posted : July 1, 2019
Last Update Posted : October 6, 2020
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment
Myotonic Dystrophy Other: Patient Registry

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 785 participants
Observational Model: Cohort
Time Perspective: Prospective
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

Group/Cohort Intervention/treatment
Participants with Myotonic Dystrophy Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Primary Outcome Measures :
  1. 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.

  2. Clinician questionnaire [ Time Frame: 12 months ]
    Clinician reported patient cardiac measures, medication use, respiratory measures and genetic confirmation of myotonic dystrophy.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Participants with Myotonic Dystrophy will volunteer to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences and meetings throughout the UK.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04003363

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Contact: Registry Project Manager and Curator 0191 2418640

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United Kingdom
John Walton Muscular Dystrophy Research Centre Recruiting
Newcastle Upon Tyne, United Kingdom, NE1 3BZ
Contact: Registry Project Manager and Curator    0191 2418640   
Principal Investigator: Chiara Marini-Bettolo, MD, PhD         
Sponsors and Collaborators
Newcastle University
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Principal Investigator: Chiara Marini-Bettolo, MD, PhD John Walton Muscular Dystrophy Research Centre
Publications of Results:

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Responsible Party: Newcastle University Identifier: NCT04003363    
Other Study ID Numbers: 18/NE/0289
First Posted: July 1, 2019    Key Record Dates
Last Update Posted: October 6, 2020
Last Verified: June 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Newcastle University:
Myotonic Dystrophy
Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 2
Additional relevant MeSH terms:
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Myotonic Dystrophy
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn