Investigating Genes in Patients With Polymyositis and Dermatomyositis (AOMIC)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2011 by Salford Royal NHS Foundation Trust
Sponsor:
Information provided by (Responsible Party):
Hector Chinoy, Salford Royal NHS Foundation Trust
ClinicalTrials.gov Identifier:
NCT01171573
First received: July 27, 2010
Last updated: September 21, 2011
Last verified: September 2011
  Purpose

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.


Condition Intervention
Myositis
Procedure: Venepuncture

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Identification of Disease Susceptibility Genes Associated With Development and Clinical Characteristics of Primary Inflammatory Muscle Diseases, PM, DM and IBM.

Resource links provided by NLM:


Further study details as provided by Salford Royal NHS Foundation Trust:

Primary Outcome Measures:
  • To identify any disease susceptibility genes associated with development and clinical characteristics of primary inflammatory muscle diseases, PM, DM and IBM. [ Time Frame: 20 years ] [ Designated as safety issue: No ]
    Blood sample, DNA analysis, along with clinical data, matching genotype with phenotype


Biospecimen Retention:   Samples With DNA

DNA and serum


Estimated Enrollment: 1000
Study Start Date: January 2001
Estimated Study Completion Date: January 2020
Estimated Primary Completion Date: January 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Myositis Patients
Cases with myositis PM DM IBM
Procedure: Venepuncture
Taking of blood
Healthy controls
Control
Procedure: Venepuncture
Taking of blood

Detailed Description:

In order to understand the genetic aspects / causes of myositis, and ultimately develop more effective treatment therapies, it will be necessary to collect blood samples and clinical details from around 1000 patients with myositis. As the condition is very rare, it will not be possible to get the required number of patients from one centre alone, and therefore, a collaborative, multicentred approach will be needed. Consultant rheumatologists and neurologists throughout the UK, who have patients with PM, DM or IBM, will be approached, and asked if they would like to officially enter into the myositis genomic multicentred study. Once ethical and R&D approval has been granted, consultants will be named as the 'Principal Investigators' at each of these 'research sites' and could then start to recruit suitable patients into the study.

Patients from each research site, with definite PM, DM or IBM, will be asked by their own consultants (Principal Investigator) to give 20 mls of blood for genetic and antibody analysis. The PI will also complete a clinical/laboratory proforma, for each patient, regarding their disease characteristics, to allow subsequent confirmation that patients' disease is indeed definite, and this proforma and the blood sample will be sent to CIGMR. All of the genetic analyses, will take place at CIGMR, but storage of clinical details and certain patient identifiers will be stored at SRFT on a password protected NHS tust computer.

This study will be co−ordinated by Dr RG Cooper through the Rheumatic Diseases Centre, Salford Royal NHS Foundation Trust (SRFT), and Professor Bill Ollier from the Centre for Integrated Genomic Medical Research unit (CIGMR), Stopford Building, Manchester University.

  Eligibility

Ages Eligible for Study:   18 Years to 70 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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.

Criteria

Inclusion Criteria:

Cases must fulfil Bohan and Peter Diagnostic Criteria for Adult PM/DM

  1. Symmetrical weakness of limb-girdle muscles and/or anterior neck flexors.
  2. Muscle biopsy evidence typical of myositis.
  3. Elevation of serum skeletal muscle enzymes.
  4. Typical EMG features of myositis.
  5. 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 Criteria:

  • 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01171573

Contacts
Contact: Bill Ollier, BSC Zoology 0161 2755622 bill.ollier@manchester.ac.uk
Contact: Robert G Cooper, MD 0161 206 1483 ext 61483 robert.g.cooper@manchester.ac.uk

Locations
United Kingdom
Salford Royal NHS Foundation Trust Recruiting
Manchester, United Kingdom, M6 8HD
Contact: Paul New , MPHARM    0161 2064295 ext 64295    paul.new@srft.nhs.uk   
Principal Investigator: Robert G Cooper, MD         
Sponsors and Collaborators
Salford Royal NHS Foundation Trust
Investigators
Principal Investigator: Robert Dr Cooper SRFT
  More Information

No publications provided

Responsible Party: Hector Chinoy, Consultant rheumatologist, Salford Royal NHS Foundation Trust
ClinicalTrials.gov Identifier: NCT01171573     History of Changes
Other Study ID Numbers: Ollier-002
Study First Received: July 27, 2010
Last Updated: September 21, 2011
Health Authority: United Kingdom: National Institute for Health Research
United Kingdom: Research Ethics Committee
United Kingdom: National Health Service

Keywords provided by Salford Royal NHS Foundation Trust:
Polymyositis
Dermatomyositis
Inclusion Body Myositis

Additional relevant MeSH terms:
Dermatomyositis
Disease Susceptibility
Myositis
Polymyositis
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Connective Tissue Diseases
Skin Diseases
Disease Attributes
Pathologic Processes

ClinicalTrials.gov processed this record on August 28, 2014