The United Kingdom National Registry for Myotonic Dystrophy

The UK National Registry for Myotonic Dystrophy

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.

Study Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy
• Intervention / Treatment: Other: Patient Registry

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 Type: Observational
• Enrollment (Estimated): 900

Contacts and Locations

• Study Contact: Name: Registry Project Manager and Curator; Phone Number: 0191 2418640; Email: helen.walker2@newcastle.ac.uk
• Study Contact Backup: Name: Registries Team; Email: registries@ncl.ac.uk

Study Locations

• United Kingdom
  • Newcastle Upon Tyne, United Kingdom, NE1 3BZ
    • Recruiting
    • John Walton Muscular Dystrophy Research Centre
    • Contact: Registry Project Manager and Curator; Phone Number: 0191 2418640; Email: myotonicdystrophyregistry@newcastle.ac.uk
    • Principal Investigator: Chiara Marini-Bettolo, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• 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.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

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.

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Newcastle University
• Investigators: Principal Investigator: Chiara Marini-Bettolo, MD, PhD, John Walton Muscular Dystrophy Research Centre

Publications and helpful links

General Publications

• Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmuller H. The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research. J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10.
• Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmuller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM. Survival patterns and cancer determinants in families with myotonic dystrophy type 1. Eur J Neurol. 2019 Jan;26(1):58-65. doi: 10.1111/ene.13763. Epub 2018 Sep 16.
• Alsaggaf R, Wang Y, Marini-Bettolo C, Wood L, Nikolenko N, Lochmuller H, Greene MH, Gadalla SM. Benign and malignant tumors in the UK myotonic dystrophy patient registry. Muscle Nerve. 2018 Feb;57(2):316-320. doi: 10.1002/mus.25736. Epub 2017 Jul 24.
• Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmuller H. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Erratum In: Orphanet J Rare Dis. 2019 Aug 15;14(1):199.

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2013
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): December 1, 2030

Study Registration Dates

• First Submitted: June 25, 2019
• First Submitted That Met QC Criteria: June 28, 2019
• First Posted (Actual): July 1, 2019

Study Record Updates

• Last Update Posted (Estimated): December 4, 2023
• Last Update Submitted That Met QC Criteria: November 28, 2023
• Last Verified: November 1, 2022

More Information

Terms related to this study

• Keywords: Myotonic Dystrophy; DM1; Myotonic Dystrophy Type 1; DM; DM2; Myotonic Dystrophy Type 2
• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Muscular Disorders, Atrophic; Heredodegenerative Disorders, Nervous System; Muscular Dystrophies; Myotonic Disorders; Myotonic Dystrophy
• Other Study ID Numbers: 18/NE/0289

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No