Condition category
Infections and Infestations
Date applied
10/08/2010
Date assigned
21/09/2010
Last edited
11/02/2016
Prospective/Retrospective
Retrospectively registered
Overall trial status
Ongoing
Recruitment status
Recruiting

Plain English Summary

Background and study aims
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 and therefore more effective treatments for myositis, it is important to understand the exact mechanisms that cause the disease in the first instance. The aim of this study is to identify genes that are associated with the development and clinical characteristics of inflammatory muscle diseases. By understanding the genetic cause of the diseases, it should be possible to design specific drugs for treating the conditions in the future.

Who can participate?
Patients aged 18 or over with PM, DM or IBM.

What does the study involve?
Participants are asked to give 20 ml of blood. These blood samples, along with the patient's clinical details, are then be sent to the Centre for Integrated Genomic Medical Research (CIGMR) at The University of Manchester, where the genetic analysis takes place.

What are the possible benefits and risks of participating?
Not provided at time of registration

Where is the study run from?
Manchester University and Salford Royal NHS Foundation Trust (UK)

When is the study starting and how long is it expected to run for?
January 2000 to January 2020


Who is funding the study?
Manchester University and Salford Royal NHS Foundation Trust (UK)

Who is the main contact?
Mr Paul New
paul.new@srft.nhs.uk

Trial website

Contact information

Type

Scientific

Primary contact

Mr Paul New

ORCID ID

Contact details

Rheumatic Diseases Centre
CSB
Hope Hospital
Stott Lane
Salford
M6 8HD
United Kingdom
-
paul.new@srft.nhs.uk

Additional identifiers

EudraCT number

ClinicalTrials.gov number

Protocol/serial number

7996

Study information

Scientific title

Identification of disease susceptibility genes associated with development and clinical characteristics of primary inflammatory muscle diseases, polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM)

Acronym

Study hypothesis

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 erythematosus (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 ml 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.

Ethics approval

North West REC 5 Haydock Park, 04/05/1999, ref: 98/8/86

Study design

Interventional clinical laboratory study

Primary study design

Interventional

Secondary study design

Non randomised study

Trial setting

Hospitals

Trial type

Screening

Patient information sheet

Not available in web format, please use the contact details below to request a patient information sheet

Condition

Topic: Inflammatory and Immune System; Subtopic: Inflammatory and Immune System (all Subtopics); Disease: Immunology and inflammation

Intervention

Venepuncture, 20 ml of blood collected in EDTA tubes and sent off for genetic and antibody analysis. Genetic analysis is taking place on these samples as an ongoing process and will continue to do so until sufficient numbers have been collected for a conformation Genome Wide Association Scan (GWAS), possibly 2020.

Intervention type

Other

Phase

Not Applicable

Drug names

Primary outcome measures

To identify any disease susceptibility genes associated with development and clinical characteristics, measured once conformation GWAS performed (possibly 2020)

Secondary outcome measures

No secondary outcome measures

Overall trial start date

06/01/2000

Overall trial end date

01/01/2020

Reason abandoned

Eligibility

Participant inclusion criteria

1. Skin lesions of (DM):
1.1. Heliotrope rash (violaceous rash and on upper eyelids)
1.2. Gottron’s sign (violaceous keratotic macules on extensor aspect of finger joints)
1.3. Violaceous slightly raised rash over elbows/knees
2. Proximal muscle weakness (PM, DM and IBM)
3. Elevated plasma muscle enzymes
4. Myalgia, at rest or with contraction
5. Myopathic changes on electromyogram (EMG)
6. Anti Jo1 Ab
7. Nondestructive arthritis
8. Systemic inflammatory signs (fever, erythrocyte sedimentation rate [ESR] greater than 20, elevated C-reactive protein [CRP], weight loss)
9. Myositic changes on muscle biopsy
10. Additional patients with proven Inclusion Body Myositis (IBM)
11. Male and female, lower age limit of 18 years

Participant type

Patient

Age group

Adult

Gender

Female

Target number of participants

Planned sample size: 600

Participant exclusion criteria

1. Below the age of 18 years
2. Myositis secondary to:
2.1. Alcohol or drug abuse
2.2. Non-abusive drug ingestion (e.g with statins, fibrates etc), or
2.3. A recent viral illnesses
3. Unable to give consent due to diminished mental capacity or inability to speak sufficient English
4. Unwilling to give blood samples

Recruitment start date

06/01/2000

Recruitment end date

01/01/2020

Locations

Countries of recruitment

United Kingdom

Trial participating centre

Rheumatic Diseases Centre
Salford
M6 8HD
United Kingdom

Sponsor information

Organisation

Manchester University (UK)

Sponsor details

Centre for Suicide Prevention
Room 2.320
University Place
Oxford Road
Manchester
M13 9PL
United Kingdom

Sponsor type

University/education

Website

http://www.manchester.ac.uk/

Funders

Funder type

University/education

Funder name

Manchester University (UK)

Alternative name(s)

Funding Body Type

Funding Body Subtype

Location

Funder name

Salford Royal NHS Foundation Trust (UK)

Alternative name(s)

Funding Body Type

Funding Body Subtype

Location

Results and Publications

Publication and dissemination plan

Not provided at time of registration

Intention to publish date

Participant level data

Not provided at time of registration

Results - basic reporting

Publication summary

Publication citations

Additional files

Editorial Notes

11/02/2016: Plain English summary added.