The United Kingdom National Registry for Myotonic Dystrophy
The UK National Registry for Myotonic Dystrophy
1 other identifier
observational
900
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started May 2013
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
May 1, 2013
CompletedFirst Submitted
Initial submission to the registry
June 25, 2019
CompletedFirst Posted
Study publicly available on registry
July 1, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2030
December 4, 2023
November 1, 2022
16.7 years
June 25, 2019
November 28, 2023
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
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
Study Arms (1)
Participants with Myotonic Dystrophy
Interventions
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
Eligibility Criteria
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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
John Walton Muscular Dystrophy Research Centre
Newcastle upon Tyne, NE1 3BZ, United Kingdom
Related Publications (4)
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.
PMID: 28397002RESULTBest 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.
PMID: 30051542RESULTAlsaggaf 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.
PMID: 28662292RESULTWood 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.
PMID: 30185236RESULT
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Chiara Marini-Bettolo, MD, PhD
John Walton Muscular Dystrophy Research Centre
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 20 Years
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
June 25, 2019
First Posted
July 1, 2019
Study Start
May 1, 2013
Primary Completion (Estimated)
January 1, 2030
Study Completion (Estimated)
December 1, 2030
Last Updated
December 4, 2023
Record last verified: 2022-11