The United Kingdom National Registry for Myotonic Dystrophy

NCT ID: NCT04003363

Last Updated: 2023-12-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

900 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-05-31

Study Completion Date

2030-12-31

Brief Summary

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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

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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.

Conditions

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Myotonic Dystrophy

Keywords

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Myotonic Dystrophy Myotonic Dystrophy Type 1 Myotonic Dystrophy Type 2 DM DM1 DM2

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Participants with Myotonic Dystrophy

Patient Registry

Intervention Type OTHER

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Interventions

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Patient Registry

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Intervention Type OTHER

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Newcastle University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Chiara Marini-Bettolo, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

John Walton Muscular Dystrophy Research Centre

Locations

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John Walton Muscular Dystrophy Research Centre

Newcastle upon Tyne, , United Kingdom

Site Status RECRUITING

Countries

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United Kingdom

Central Contacts

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Registry Project Manager and Curator

Role: CONTACT

Phone: 0191 2418640

Email: [email protected]

Registries Team

Role: CONTACT

Email: [email protected]

Facility Contacts

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Registry Project Manager and Curator

Role: primary

References

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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.

Reference Type RESULT
PMID: 28397002 (View on PubMed)

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.

Reference Type RESULT
PMID: 30051542 (View on PubMed)

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.

Reference Type RESULT
PMID: 28662292 (View on PubMed)

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.

Reference Type RESULT
PMID: 30185236 (View on PubMed)

Other Identifiers

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18/NE/0289

Identifier Type: -

Identifier Source: org_study_id