The United Kingdom National Registry for Myotonic Dystrophy

Myotonic Dystrophy Clinical Trial

Official title:

The UK National Registry for Myotonic Dystrophy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04003363
• Other study ID #: 18/NE/0289
• Status: Recruiting
• Start date: May 2013
• Est. completion date: December 2030

Study information

• Verified date: November 2022
• Source: Newcastle University
• Contact: Registry Project Manager and Curator
• Phone: 0191 2418640
• Email: helen.walker2[@]newcastle.ac.uk
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 900
• Est. completion date: December 2030
• Est. primary completion date: January 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Myotonic Dystrophy

Intervention

Other:
• Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Locations

Country	Name	City	State
United Kingdom	John Walton Muscular Dystrophy Research Centre	Newcastle Upon Tyne

Sponsors (1)

Lead Sponsor	Collaborator
Newcastle University

Country where clinical trial is conducted

United Kingdom, 

References & Publications (4)

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. — View Citation

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 — View Citation

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, Lusakow — View Citation

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 — View Citation

Outcome

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