Investigating genes in patients with polymyositis and dermatomyositis
| ISRCTN | ISRCTN28639298 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN28639298 |
| ClinicalTrials.gov number | NCT01171573 |
| Secondary identifying numbers | 7996 |
- Submission date
- 10/08/2010
- Registration date
- 21/09/2010
- Last edited
- 04/02/2021
- Recruitment status
- No longer recruiting
- Overall study status
- Ongoing
- Condition category
- Musculoskeletal Diseases
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 December 2030 (updated 04/02/2021, previously: 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
Contact information
Scientific
Institute of Ageing and Chronic Disease
University of Liverpool
William Duncan Building
6 West Derby Road
Liverpool
L7 8TX
United Kingdom
| Phone | +44 (0)151 794 9256 |
|---|---|
| paul.new@liverpool.ac.uk |
Scientific
Centre for Musculoskeletal Research
Division of Musculoskeletal & Dermatological Sciences
The University of Manchester School of Biological Sciences
2.810 Stopford Building
Oxford Road
Manchester
M13 9PT
United Kingdom
| Phone | +44(0)161 275 1676 |
|---|---|
| hector.chinoy@manchester.ac.uk |
Study information
| Study design | Interventional clinical laboratory study |
|---|---|
| Primary study design | Interventional |
| Secondary study design | Non randomised study |
| Study setting(s) | Hospital |
| Study type | Screening |
| Participant information sheet | Not available in web format, please use the contact details below to request a patient information sheet |
| 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) |
| Study acronym | UKMYONET |
| 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(s) | North West REC 5 Haydock Park, 04/05/1999, ref: 98/8/86 |
| Condition | Polymyositis, dermatomyositis and inclusion body myositis |
| 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 | Genetic |
| Primary outcome measure | 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 study start date | 06/01/2000 |
| Overall study end date | 31/12/2030 |
Eligibility
| Participant type(s) | Patient |
|---|---|
| Age group | Adult |
| Lower age limit | 18 Years |
| Sex | Both |
| Target number of participants | Planned sample size: 600 |
| Total final enrolment | 1947 |
| Participant inclusion criteria | 1. Skin lesions of (DM): 1.1. Heliotrope rash (violaceous rash and on upper eyelids) 1.2. Gottrons 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 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 | 26/08/2020 |
Locations
Countries of recruitment
- England
- United Kingdom
Study participating centre
M6 8HD
United Kingdom
Sponsor information
University/education
Centre for Suicide Prevention
Room 2.320, University Place
Oxford Road
Manchester
M13 9PL
England
United Kingdom
| Website | http://www.manchester.ac.uk/ |
|---|---|
"ROR" |
https://ror.org/027m9bs27 |
Funders
Funder type
University/education
No information available
No information available
Results and Publications
| Intention to publish date | 31/12/2030 |
|---|---|
| Individual participant data (IPD) Intention to share | No |
| IPD sharing plan summary | Not provided at time of registration |
| Publication and dissemination plan | Not provided at time of registration |
| IPD sharing plan |
Editorial Notes
04/02/2021: The following changes were made to the trial record:
1. The overall end date was changed from 01/01/2020 to 31/12/2030.
2. The recruitment end date was changed from 01/01/2020 to 26/08/2020.
3. The total final enrolment was added.
4. The intention to publish date was added.
5. The plain English summary was updated to reflect these changes.
26/04/2019: Paul New's contact details have been updated and Dr Hector Chinoy has been added as a scientific contact.
24/04/2019: The following changes have been made:
1. The clinicaltrials.gov number has been added.
2. The trial acronym has been added.
03/04/2019: The condition has been changed from "Topic: Inflammatory and Immune System; Subtopic: Inflammatory and Immune System (all Subtopics); Disease: Immunology and inflammation" to "Polymyositis, dermatomyositis and inclusion body myositis" following a request from the NIHR.
11/02/2016: Plain English summary added.
