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| Status | Open to recruitment |
| Sponsor / Funder | Newcastle upon Tyne NHS Hospitals Foundation Trust |
| CI | Professor Hanns Lochmüller, Dr Chris Turner |
| Sites | Newcastle, London NHNN |
Background
This is a UK, multicentre,
prospective observational cohort study of adult patients with genetically
confirmed DM1. DM1 is the most common adult muscular dystrophy affecting an
estimated 8,000 people in the UK.
It is an autosomal dominant disorder
associated with a progressive multisystemic disease and there is no cure or
disease modifying treatment. The average age of death is 53 years from cardiac
and respiratory complications that are usually preceded by decades of morbidity
and reduced quality of life.
The multisystemic phenotype may be highly variable between patients and therefore the selection of appropriate endpoints for therapeutic trials is of great importance for trial readiness.
Primary objective
Tto deep phenotype a population of DM1 patients to better understand the disease and promote their trial-readiness for the upcoming treatments currently in pipeline and about to reach human research stage.
Recruitment
400 DM1 patients.
Investigation of potential biomarkers over 12 months which can be used to assess treatment efficacy. A comprehensive battery of assessments will be performed at visit 1 and repeated 12 months later at visit 2. No investigational agents or experimental interventions will be administered throughout this study.
Subjects will be evaluated by:
- tests of muscle strength and function
- patient-reported outcomes measures
- and for evaluation of potential serum biomarkers
At each study visit, any medications or therapies that the subject has received since the last study visit will be recorded. The study will also stratify patients in different cohorts according to their phenotypical characteristics (such as muscle strength, ambulatory status, myotonia, daytime sleepiness and fatigue) in order to enhance their eligibility for future clinical trials.
All data will be entered into OpenClinica software as recommended for the NIHR translational research collaboration for rare disease programme.