Investigating Genes in Patients With Polymyositis and Dermatomyositis
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Trial details
- Who runs it
- Northern Care Alliance NHS Foundation Trust
- Trial code
- NCT01171573
- Record updated
- 5 April 2023
- Original description
Polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM)belong to a group of inflammatory muscle disorders, of unknown cause, that are characterised by skeletal muscle inflammation and progressive muscular weakness, which can be debilitating and chronic in nature (occasionally fatal).Read full original descriptionShow less
Identification of Disease Susceptibility Genes Associated With Development and Clinical Characteristics of Primary Inflammatory Muscle Diseases, PM, DM and IBM.
Polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM)belong to a group of inflammatory muscle disorders, of unknown cause, that are characterised by skeletal muscle inflammation and progressive muscular weakness, which can be debilitating and chronic in nature (occasionally fatal).
The current treatment options for these conditions are steroids and various other immunosuppressive drugs. However, these are usually only partially effective at reducing symptoms, and their toxic side effects also limit their usefulness. In order to develop more specific treatments for myositis in the future (and therefore more effective), it is important to understand the exact mechanisms that cause the disease in the first instance. In other similar inflammatory diseases such as rheumatoid arthritis (RA) and systemic lupus (SLE), it is known that changes to the Human Leukocyte Antigen(HLA), as well as certain inflammatory cytokines, are involved in both the development and expression of the disease.
As many of the inflammatory mechanisms that cause damage in PM, DM and IBM are similar to those in RA and SLE, it seems likely that similar genetic factors will also be involved in the development and expression of PM, DM and IBM.
In order to understand the genetic aspects / causes of myositis, and ultimately develop more effective treatment therapies in the future, patients with PM, DM or IBM, will be asked to give 20 mls of blood. These blood samples, along with the patient's clinical details, will then be sent to the Centre for Integrated Genomic Medical Research (CIGMR), at The University of Manchester, where all of the genetic analyses will take place. By understanding the genetic cause of the disease, it should be possible to design specific drugs for treating the condition in the future.
Inclusion: Cases must fulfil Bohan and Peter Diagnostic Criteria for Adult PM/DM; Symmetrical weakness of limb-girdle muscles and/or anterior neck flexors; Muscle biopsy evidence typical of myositis; Elevation of serum skeletal muscle enzymes; Typical EMG features of myositis; Typical DM rash, including:; Probable / definite PM: at least 3 of items 1-4 +ive. Probable / definite DM: item 5 \& at least 2 of items 1-4 +ive.
Exclusion: Patients with myositis secondary to alcohol or drug abuse, non abusive drug ingestion (e.g with statins, fibrates etc); Patients with myositis following a recent viral illnesses; Patients below the age of 18 years; Patients unable to consent for themselves due to diminished mental capacity; Patients that can not speak sufficiently good English; Patients unwilling to give blood sample.