NCT05738824

Brief Summary

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 2 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.
  • Lymph node biopsy: A small sample of fluid or tissue from a lymph node will taken to check for infection.
  • Genetic testing. Some of the samples collected may be used for genetic testing.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
500

participants targeted

Target at P75+ for all trials

Timeline
69mo left

Started Jun 2023

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress35%
Jun 2023Feb 2032

First Submitted

Initial submission to the registry

February 18, 2023

Completed
4 days until next milestone

First Posted

Study publicly available on registry

February 22, 2023

Completed
3 months until next milestone

Study Start

First participant enrolled

June 1, 2023

Completed
8.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 25, 2032

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 25, 2032

Last Updated

June 11, 2026

Status Verified

June 9, 2026

Enrollment Period

8.7 years

First QC Date

February 18, 2023

Last Update Submit

June 10, 2026

Conditions

Inflammation In Skeletal Muscle

Keywords

PolymyositisDermatomyositisChildhood DermatomyositisNatural History

Outcome Measures

Primary Outcomes (1)

  • Define the different types of inflammatory muscle diseases, their etiology, pathogenesis, prognostic factors, and response to different treatments.

    Severity of muscle, skin, pulmonary, and joint involvement. Study of the immune dysregulation, transcriptomic changes, and genetic modifications in patients with inflammatory muscle diseases.

    End of each visit

Secondary Outcomes (1)

  • Study different diagnostic modalities that may help to diagnose and monitor the evolution of the disease in patients with myositis.

    at baseline

Study Arms (2)

Healthy Volunteers

18 years old and up

Patients

greater than 2 years old

Eligibility Criteria

Age2 Years - 120 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with possible inflammatory muscle disease (suspected or confirmed), and healthy volunteers.

You may qualify if:

  • In order to be eligible to participate in this study, an individual must meet all of the following criteria:
  • \. Ability of subject, or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent and/or assent document.
  • a. Patients are adults and minors of age 2 or older, with possible inflammatory myopathy (suspected or confirmed)
  • b. Healthy volunteers will be adults aged 18 or older.

You may not qualify if:

  • \. Unwilling to participate in research studies or to provide research samples or data.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (6)

  • 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: 31074729BACKGROUND

  • 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: 28085235BACKGROUND

  • 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: 31594859BACKGROUND

  • 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: 31434690BACKGROUND

  • 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: 32546599BACKGROUND

  • Selva-O'Callaghan A, Pinal-Fernandez I, Trallero-Araguas 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: 30129477BACKGROUND

Related Links

MeSH Terms

Conditions

PolymyositisDermatomyositis

Condition Hierarchy (Ancestors)

MyositisMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesConnective Tissue DiseasesSkin and Connective Tissue DiseasesSkin Diseases

Study Officials

  • Andrew L Mammen, M.D.

    National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Julie G Thompson, R.N.

CONTACT

(301) 480-3191julie.thompson@nih.gov

Andrew L Mammen, M.D.

CONTACT

(301) 594-6667andrew.mammen@nih.gov

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 18, 2023

First Posted

February 22, 2023

Study Start

June 1, 2023

Primary Completion (Estimated)

February 25, 2032

Study Completion (Estimated)

February 25, 2032

Last Updated

June 11, 2026

Record last verified: 2026-06-09

Locations

US(1)