- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00341679
Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases
This study will define the major genetic risk and protective factors for idiopathic inflammatory myopathies (IIM), a group of immune disorders affecting connective tissues such as muscles. It will also identify new environmental risk factors for IIM and identify immune responses in myositis and related diseases. There are many forms of IIMs, and the causes of these diseases are unknown. However, scientists suspect that they result when people with some genetic factors that predispose them-that is, put them at greater risk-are exposed to certain environmental triggers. Some of those triggers include food, drugs, biologics (such as a vaccine to prevent disease), medical devices and occupational exposures.
Patients, including children under 18, who had a diagnosis of myositis, a related autoimmune disease, or a rheumatic disease, as well as their blood relatives, and control subjects who were in good health have already been recruited for this study.
The evaluation consisted of one outpatient visit to the patient's doctor, who will obtain a medical history and conduct a physician examination. Patients spent 20 to 30 minutes to answer written questions. There was a blood collection of about 6 tablespoons. If there was a major change in patients' medical conditions, they were asked to return for a second outpatient evaluation to determine whether any of the blood tests or antibodies, which show an immune response, had changed. Blood samples collected will be used only for laboratory research studies. The samples have been identified by a code, and all other identifying information have been removed.
During the study, researchers will explore possible environmental risk factors, including studies of infectious and non-infectious agents. They will analyze the blood for genetic markers and test for certain antibodies. Laboratory results will be evaluated as they relate to the signs, symptoms, and severity of patients' illnesses. That would help researchers to better understand patterns of the diseases and the outcomes for patients.
This study will not have a direct benefit for patients. However, results from the study can be made available to patients' doctors for use in appropriate care. Also, it is hoped that information gained can help other people in the future.
Study Overview
Status
Detailed Description
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
Maryland
-
Bethesda, Maryland, United States, 20892
- National Institute of Environmental Health Sciences (NIEHS), 9000 Rockville Pike
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
- Recruitment into the study is by invitation.
INCLUSION CRITERIA:
For the primary autoimmune and myositis study populations, children (less than 18 years of age) or adults (18 or more years of age) require a diagnosis of myositis or a related autoimmune or rheumatic disorder.
Family members need to be blood relatives of the proband with the diagnosis of an autoimmune disease.
Normal volunteers will be gender- and race-matched to a subset of autoimmune subjects as controls needed for specific studies.
Normal volunteers should be in good health, without a recognized systemic rheumatic disorder or other autoimmune disease, and should not be taking anti-inflammatory medicines, including nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids.
For all subjects: ability of the subject or parents/legal guardians to provide informed consent to all aspects of the study after full protocol information is provided.
Patients enrolling in the MYOVISION national myositis patient registry were diagnosed with adult or juvenile DM, PM, IBM, or another form of myositis; resided within the United States or Canada at the time of diagnosis, and provided informed consent and completed the study questionnaires, either on paper or online. In the case of children <18 years of age, the parent or legal guardian provided informed consent and completed the study questionnaires.
EXCLUSION CRITERIA:
Exclusion criteria for all protocol subjects:
- medical illness that in the judgment of the investigators does not allow safe blood draws or other clinical evaluations needed for study participation;
- cognitive impairment;
- inability to give informed assent or consent.
Exclusion criteria for normal volunteers:
Recognized systemic rheumatic disorder or other autoimmune disease, history of cancer or taking anti-inflammatory medicines, including nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids, severe trauma, infections or vaccinations within 8 weeks.
Exclusion criteria for patients in the MYOVISION national myositis patient registry were subjects with cognitive impairment and those unable to or unwilling to give informed consent,or failing to meet the inclusion criteria of the study.
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Retrospective
Cohorts and Interventions
Group / Cohort |
---|
Family Members
Family members need to be blood relatives of the proband with the diagnosis of an autoimmune disease
|
IIM Patient
Adult and pediatric patients with diagnosis of myositis or a related autoimmune or rheumatic disorder (by Bohan and Peter criteria, American College of Rheumatology, or other criteria).
|
Normal volunteers
gender and race-matched to a subset of autoimmune subjects as controls.
Should be without any autoimmune disease.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Myositis Autoantibodies
Time Frame: at the time of enrollment visit
|
Individuals who develop autoimmune diseases are associated with self-reactive autoantibodies.
The clinical course of disease in IIM appears to be more closely related to the presence of certain myositis-specific autoantibodies
|
at the time of enrollment visit
|
Human leukocyte antigen
Time Frame: at the time of enrollment visit
|
The efforts to identify candidate genes will initially include polymorphic MHC and non-MHC immune response genes such as those for HLA,cytokines and chemokines with the strongest known associations with autoimmunity
|
at the time of enrollment visit
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Environmental Exposures
Time Frame: ongoing
|
Assessment of possible selected environmental risk factors will include studies of infectious and non-infectious agents by immunologic and other approaches.
Birthdates, seasonal and geographic associations with disease onset, as well as unusual clustering in the frequencies of selected phenotypes or genotypes will also be studied.
|
ongoing
|
Clinical Phenotyping of
Time Frame: ongoing
|
The different phenotypes and immunologic abnormalities found in the clinicopathologic and immune response groups of the IIM suggest possible different pathogenesis and risk factors.
|
ongoing
|
Pathogenesis of the Disease
Time Frame: ongoing
|
to find possible different pathogenesis of multiple immune-mediated disorders.
|
ongoing
|
Collaborators and Investigators
Investigators
- Principal Investigator: Lisa G Rider, M.D., National Institute of Environmental Health Sciences (NIEHS)
Publications and helpful links
General Publications
- Rider LG, Shah M, Mamyrova G, Huber AM, Rice MM, Targoff IN, Miller FW; Childhood Myositis Heterogeneity Collaborative Study Group. The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies. Medicine (Baltimore). 2013 Jul;92(4):223-243. doi: 10.1097/MD.0b013e31829d08f9.
- O'Hanlon TP, Carrick DM, Targoff IN, Arnett FC, Reveille JD, Carrington M, Gao X, Oddis CV, Morel PA, Malley JD, Malley K, Shamim EA, Rider LG, Chanock SJ, Foster CB, Bunch T, Blackshear PJ, Plotz PH, Love LA, Miller FW. Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: distinct HLA-A, -B, -Cw, -DRB1, and -DQA1 allelic profiles distinguish European American patients with different myositis autoantibodies. Medicine (Baltimore). 2006 Mar;85(2):111-127. doi: 10.1097/01.md.0000217525.82287.eb.
- Miller FW, Chen W, O'Hanlon TP, Cooper RG, Vencovsky J, Rider LG, Danko K, Wedderburn LR, Lundberg IE, Pachman LM, Reed AM, Ytterberg SR, Padyukov L, Selva-O'Callaghan A, Radstake TR, Isenberg DA, Chinoy H, Ollier WE, Scheet P, Peng B, Lee A, Byun J, Lamb JA, Gregersen PK, Amos CI; Myositis Genetics Consortium. Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. Genes Immun. 2015 Oct;16(7):470-80. doi: 10.1038/gene.2015.28. Epub 2015 Aug 20.
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 999905200
- 05-E-N200
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Dermatomyositis
-
Istituto Giannina GasliniPediatric Rheumatology International Trials OrganizationCompletedJuvenile DermatomyositisItaly
-
The First Hospital of Jilin UniversityCompletedJuvenile Dermatomyositis
-
The Cleveland ClinicMallinckrodtCompletedDermatomyositis | Juvenile DermatomyositisUnited States
-
Biotech Pharmaceutical Co., Ltd.Not yet recruitingDermatomyositis, Adult Type
-
First Affiliated Hospital Xi'an Jiaotong UniversityRecruitingDermatomyositis, Adult TypeChina
-
Tulane UniversityCompletedDermatomyositis, Adult TypeUnited States
-
Assistance Publique - Hôpitaux de ParisRecruitingJuvenile DermatomyositisFrance
-
The Hospital for Sick ChildrenCompletedJuvenile DermatomyositisCanada
-
MedImmune LLCCompletedDERMATOMYOSITIS OR POLYMYOSITISUnited States
-
Second Affiliated Hospital, School of Medicine,...RecruitingGastric Mucosal Manifestations in Patients With DermatomyositisChina