Protocol Details
Natural History of Inflammatory Muscle Diseases
This study is currently recruiting participants.
Summary
Number |
000894-AR |
Sponsoring Institute |
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 12 Years
Max Age: 120 Years |
Referral Letter Required |
No |
Population Exclusion(s) |
None |
Keywords |
Polymyositis;
Dermatomyositis;
Childhood Dermatomyositis;
Natural History |
Recruitment Keyword(s) |
None |
Condition(s) |
Inflammation In Skeletal Muscle |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Institute of Arthritis and Musculoskeletal and Skin Diseases |
Objective:
To collect information and biospecimens (such as blood, muscle, and skin samples) that will be used to research causes and treatments of inflammatory muscle diseases.
Eligibility:
People aged 12 years and older with suspected or confirmed inflammatory muscle disease. Healthy volunteers aged 18 years and older are also needed.
Design:
Participants will have at least 1 clinic visit. Each visit will last 4 to 8 hours. Some may return for additional visits.
All participants will undergo these procedures (unless they are unable to):
-Physical exam, including blood and urine tests.
-Magnetic resonance imaging (MRI) scan of the thigh. Participants will lie still on a table with padding around 1 thigh. The table will slide into a tube. The scan will last for approximately 40 minutes.
Some procedures are optional:
-Muscle biopsy. An area of skin will be numbed. A quarter-inch cut will be made. Several pieces of muscle tissue, about the size of grains of rice, will be removed.
-Skin biopsy. An area of skin will be numbed. A piece of skin about a quarter inch in diameter will be removed.
-Genetic testing. Some of the samples collected may be used for genetic testing.
Eligibility
INCLUSION CRITERIA:
In order to be eligible to participate in this study, an individual must meet all of the following criteria:
1. Ability of subject, or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent and/or assent document.
2a. Patients are adults and minors of age 12 or older, with possible inflammatory myopathy (suspected or confirmed)
OR
2b. Healthy volunteers will be adults aged 18 or older.
EXCLUSION CRITERIA:
1. Unwilling to participate in research studies or to provide research samples or data.
Citations:
Casal-Dominguez M, Pinal-Fernandez I, Huapaya J, Albayda J, Paik JJ, Johnson C, Silhan L, Mammen AL, Danoff SK, Christopher-Stine L. Efficacy and adverse effects of methotrexate compared with azathioprine in the antisynthetase syndrome. Clin Exp Rheumatol. 2019 Sep-Oct;37(5):858-861. Epub 2019 Apr 29. PMID: 31074729.
Albayda J, Pinal-Fernandez I, Huang W, Parks C, Paik J, Casciola-Rosen L, Danoff SK, Johnson C, Christopher-Stine L, Mammen AL. Antinuclear Matrix Protein 2 Autoantibodies and Edema, Muscle Disease, and Malignancy Risk in Dermatomyositis Patients. Arthritis Care Res (Hoboken). 2017 Nov;69(11):1771-1776. doi: 10.1002/acr.23188. PMID: 28085235; PMCID: PMC5509530.
Pinal-Fernandez I, Mecoli CA, Casal-Dominguez M, Pak K, Hosono Y, Huapaya J, Huang W, Albayda J, Tiniakou E, Paik JJ, Johnson C, Danoff SK, Corse AM, Christopher-Stine L, Mammen AL. More prominent muscle involvement in patients with dermatomyositis with anti-Mi2 autoantibodies. Neurology. 2019 Nov 5;93(19):e1768-e1777. doi: 10.1212/WNL.0000000000008443. Epub 2019 Oct 8. PMID: 31594859; PMCID: PMC6946486.
Pinal-Fernandez I, Casal-Dominguez M, Derfoul A, Pak K, Plotz P, Miller FW, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Paik J, Albayda J, Christopher-Stine L, Lloyd TE, Corse AM, Mammen AL. Identification of distinctive interferon gene signatures in different types of myositis. Neurology. 2019 Sep 17;93(12):e1193-e1204. doi: 10.1212/WNL.0000000000008128. Epub 2019 Aug 21. PMID: 31434690; PMCID: PMC6808530.
Pinal-Fernandez I, Casal-Dominguez M, Derfoul A, Pak K, Miller FW, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Carrion-Ribas C, Paik JJ, Albayda J, Christopher-Stine L, Lloyd TE, Corse AM, Mammen AL. Machine learning algorithms reveal unique gene expression profiles in muscle biopsies from patients with different types of myositis. Ann Rheum Dis. 2020 Sep;79(9):1234-1242. doi: 10.1136/annrheumdis-2019-216599. Epub 2020 Jun 16. PMID: 32546599.
Selva-O'Callaghan A, Pinal-Fernandez I, Trallero-Aragu(SqrRoot)(Degree)s E, Milisenda JC, Grau-Junyent JM, Mammen AL. Classification and management of adult inflammatory myopathies. Lancet Neurol. 2018 Sep;17(9):816-828. doi: 10.1016/S1474-4422(18)30254-0. PMID: 30129477.
Contacts:
Clinical Trials Number:
NCT05738824