The United Kingdom National Registry for Myotonic Dystrophy

Study Overview
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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: Mandatory items (demographic information, clinical diagnosis, genetic test result, current best motor function and wheelchair use) and 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.

Official Title
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The UK National Registry for Myotonic Dystrophy

Conditions
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Myotonic Dystrophy

Intervention / Treatment
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* Other: Patient Registry


Participation Criteria
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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 Exclusion Criteria: There are no exclusion criteria for the registry
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participants with Myotonic Dystrophy<br> | Other: Patient Registry<br>* Participants who have volunteered to participate will complete various questionnaires relating to their condition.<br>|

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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DM, Myotonic Dystrophy, Myotonic Dystrophy Type 1, Myotonic Dystrophy Type 2, DM1, DM2