MuSK Myasthenia 1000 Study

NCT06259071 | Recruiting DMC

• 1 other identifier: 8203
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

The MuSK myasthenia gravis 1000 study seeks to collect saliva samples from 1000 subjects with laboratory confirmed diagnosis of MuSK myasthenia to identify genetic variations associated with MuSK MG. The data collected may be used by researchers to gain a better understanding of the cause of MuSK MG and to identify biomarkers and targeted therapy for MuSK MG.

Conditions

Myasthenia Gravis; MuSK MG; MuSK Myasthenia Gravis

Outcome Measures

Primary Outcomes (1)

• GWAS

  identify genetic characteristics associated with musk myasthenia gravis

  2 years

Eligibility Criteria

• Age: 7 Years - 99 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

musk myasthenia gravis patients

You may qualify if:

• Lab test confirming diagnosis of MuSK myasthenia gravis
• Willingness to provide saliva sample via mail or in person

You may not qualify if:

• Inability to provide informed consent
• Unwillingness to provide lab results of elevated muscle specific kinase antibody
• Unwillingness to provide saliva sample

Sponsors & Collaborators

• Myasthenia Gravis Rare Disease Network: lead

Study Sites (1)

George Washington University

Washington D.C., District of Columbia, 20037, United States

RECRUITING

Related Publications (2)

• Renton AE, Pliner HA, Provenzano C, Evoli A, Ricciardi R, Nalls MA, Marangi G, Abramzon Y, Arepalli S, Chong S, Hernandez DG, Johnson JO, Bartoccioni E, Scuderi F, Maestri M, Gibbs JR, Errichiello E, Chio A, Restagno G, Sabatelli M, Macek M, Scholz SW, Corse A, Chaudhry V, Benatar M, Barohn RJ, McVey A, Pasnoor M, Dimachkie MM, Rowin J, Kissel J, Freimer M, Kaminski HJ, Sanders DB, Lipscomb B, Massey JM, Chopra M, Howard JF Jr, Koopman WJ, Nicolle MW, Pascuzzi RM, Pestronk A, Wulf C, Florence J, Blackmore D, Soloway A, Siddiqi Z, Muppidi S, Wolfe G, Richman D, Mezei MM, Jiwa T, Oger J, Drachman DB, Traynor BJ. A genome-wide association study of myasthenia gravis. JAMA Neurol. 2015 Apr;72(4):396-404. doi: 10.1001/jamaneurol.2014.4103.

  PMID: 25643325 BACKGROUND

• Green JD, Barohn RJ, Bartoccion E, Benatar M, Blackmore D, Chaudhry V, Chopra M, Corse A, Dimachkie MM, Evoli A, Florence J, Freimer M, Howard JF, Jiwa T, Kaminski HJ, Kissel JT, Koopman WJ, Lipscomb B, Maestri M, Marino M, Massey JM, McVey A, Mezei MM, Muppidi S, Nicolle MW, Oger J, Pascuzzi RM, Pasnoor M, Pestronk A, Provenzano C, Ricciardi R, Richman DP, Rowin J, Sanders DB, Siddiqi Z, Soloway A, Wolfe GI, Wulf C, Drachman DB, Traynor BJ. Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America. BMJ Open. 2020 Sep 18;10(9):e037909. doi: 10.1136/bmjopen-2020-037909.

  PMID: 32948566 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

saliva sample

MeSH Terms

Conditions

Myasthenia Gravis

Condition Hierarchy (Ancestors)

Paraneoplastic Syndromes, Nervous System; Nervous System Neoplasms; Neoplasms by Site; Neoplasms; Paraneoplastic Syndromes; Autoimmune Diseases of the Nervous System; Nervous System Diseases; Neurodegenerative Diseases; Neuromuscular Junction Diseases; Neuromuscular Diseases; Autoimmune Diseases; Immune System Diseases

Central Study Contacts

Gulsen Oztosun, MD

CONTACT

202-677-6109; musk1000@mfa.gwu.edu

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 6, 2024
• First Posted: February 14, 2024
• Study Start: August 23, 2023
• Primary Completion: August 23, 2025
• Study Completion: December 31, 2025
• Last Updated: February 14, 2024

Record last verified: 2024-02

Locations

US (1)