Investigating Genes in Patients With Polymyositis and Dermatomyositis

NCT01171573 | Active Not Recruiting DMC

• 1 other identifier: Ollier-002
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Myositis

Keywords

Polymyositis; Dermatomyositis; Inclusion Body Myositis

Outcome Measures

Primary Outcomes (1)

• To identify any disease susceptibility genes associated with development and clinical characteristics of primary inflammatory muscle diseases, PM, DM and IBM.

  Blood sample, DNA analysis, along with clinical data, matching genotype with phenotype

  20 years

Study Arms (2)

Myositis Patients

Cases with myositis PM DM IBM Venepuncture

Procedure: Venepuncture

Healthy controls

Control

Procedure: Venepuncture

Interventions

Venepuncture PROCEDURE

Venepuncture - Taking blood

Healthy controls; Myositis Patients

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Potential participants will be identified at their routine attendance of myositis clinics at participating centres, by the study PI. Before recruitment, each prospective candidate will be given a full explanation of the study, provided with a patient information sheet (PIS) and consent form to read, and given the opportunity to ask any questions that may arise. Once all questions have been answered and the Principal Investigator is assured that the individual understands what is required, informed consent can then be sought.

You may qualify if:

• 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.

You may not qualify if:

• Patients below the age of 18 years
• 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 unable to consent for themselves due to diminished mental capacity
• Patients that can not speak sufficiently good English.
• Patients unwilling to give blood sample.

Sponsors & Collaborators

• Northern Care Alliance NHS Foundation Trust: lead

Study Sites (1)

Salford Royal NHS Foundation Trust

Manchester, M6 8HD, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA and serum

MeSH Terms

Conditions

Myositis; Polymyositis; Dermatomyositis; Myositis, Inclusion Body

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Robert Dr Cooper

  SRFT

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Senior Lecturer/Consultant Rheumatologist

Study Record Dates

• First Submitted: July 27, 2010
• First Posted: July 28, 2010
• Study Start: January 1, 2001
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: April 5, 2023

Record last verified: 2023-04

Locations

GB (1)