The United Kingdom National Registry for Myotonic Dystrophy

Status Recruiting

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.

Clinical Trial 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 Design

Related Conditions & MeSH terms

Myotonic Dystrophy

Clinical Trial Details

NCT number	NCT04003363
Study type	Observational [Patient Registry]
Source	Newcastle University
Contact	Registry Project Manager and Curator
Phone	0191 2418640
Email	helen.walker2@newcastle.ac.uk
Status	Recruiting
Phase
Start date	May 2013
Completion date	December 2030

View Details

See also
Status	Clinical Trial	Phase
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Recruiting	`NCT05890833` - The Risk of Falls Index for Patients With Neuromuscular Disorders
Completed	`NCT05027269` - Study of AOC 1001 in Adult Myotonic Dystrophy Type 1 (DM1) Patients	Phase 1/Phase 2
Completed	`NCT00233519` - Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1)	Phase 1/Phase 2
Completed	`NCT00167609` - Efficacy and Safety of DHEA for Myotonic Dystrophy	Phase 2/Phase 3
Not yet recruiting	`NCT06411288` - Global Study of Del-desiran for the Treatment of DM1	Phase 3
Completed	`NCT01136330` - DM1 Heart Registry - DM1 Respiratory Registry	N/A
Completed	`NCT02375087` - Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ?
Completed	`NCT01406873` - Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1	Phase 2
Completed	`NCT03959189` - Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1	Phase 1
Completed	`NCT01931644` - At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
Recruiting	`NCT00127582` - RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy	Phase 3
Recruiting	`NCT02398786` - Myotonic Dystrophy Family Registry
Recruiting	`NCT05019625` - Biomarker Development for Muscular Dystrophies
Recruiting	`NCT05020002` - Extracellular RNA Biomarkers of Myotonic Dystrophy
Active, not recruiting	`NCT04616807` - An Observational Study in Adult Patients With Non-dystrophic Myotonic Disorders
Active, not recruiting	`NCT05479981` - Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients	Phase 2
Terminated	`NCT02315339` - European Home Mechanical Ventilation Registry
Not yet recruiting	`NCT06147414` - Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.