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RecruitingNCT06259071MuSK 1000Updated Aug 5, 2026

MuSK Myasthenia 1000 Study

An observational study in Myasthenia Gravis, MuSK MG and MuSK Myasthenia Gravis, sponsored by George Washington University. Recruiting at 1 site in United States. Open to participants aged 7 Years to 99 Years. Per ClinicalTrials.gov, last updated 2026-08-05.

Sponsored by George Washington University · Observational

From the registry’s dates

  • Started Aug 2023; still recruiting 3 years 2 months later.
Study type
Observational
Model
Other
Time perspective
Prospective
Enrollment
1,000
Ages
7 Years to 99 Years
Sex
All
01

Where this study stands

Counted across the records on this site · 2026-11-13

Among 144 studies in Myasthenia Gravis with a site in United States — 53 open to participants now, 73 under way, 25 of them phase 3. Myasthenia Gravis · United States.

Planned enrollment
6th of 36
1,000 · median 226
Started
2023
with 9 others
Observational
36 of 144
22 open now
Primary completion
2027-08
later than 32 of 72 live
Registered
95th of 144
by date

Among the 144 studies in Myasthenia Gravis with a site in United States, this one is the 6th largest by planned enrollment of the 36 observational ones that give a count, is one of 10 that started in 2023, is one of 36 observational ones, reaches primary completion later than 32 of the 72 other live ones, and was the 95th registered.

Myasthenia Gravis

330 studies on the registry are indexed under Myasthenia Gravis; 144 are open to participants now.

Browse Myasthenia Gravis studies →

Open to participants now

53 of the 144 studies in Myasthenia Gravis with a site in United States are open now. Recruiting first, the newest first:

48 more — sign in →

All 53 open studies →

A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →

Who these studies take

Of the 104 Myasthenia Gravis studies recruiting now, 64 (62%) set no upper age limit and 23 (22%) stop at 75 or younger; 16 take children under 18; 13 take healthy volunteers.

This study: 7 Years to 99 Years · all sexes.

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Watch this landscapeDownload CSVNarrow it in search →With an account: a weekly mail of what changed among 144 studies in Myasthenia Gravis with a site in United States, or all of them as a file.
02

Study 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.

Read the detailed description

Myasthenia gravis is a rare, neuromuscular (disease of the muscle and nerves) autoimmune disease characterized by weakness of the muscles. MG has a prevalence of approximately 14-40 per 100,000 people in the United States. There is no cure for MG, however understanding the disease is crucial to pave the way for development of new therapies. Important to note, the most common subtype of MG associated with Acetylcholine receptor antibodies (AChR) are found in more than 80% of patients with generalized myasthenia gravis, whereas muscle-specific kinase (MuSK) antibodies are found in only 8% of MG patients. These are found in patients with the AChR antibodies. Since the discovery of MuSK antibodies in patients, much has been learned. It has become clear that MuSK antibody MG differs in many ways from AChR antibody MG. There is some information that specific genetic factors play a role in development of MuSK MG.

Our objective is to collect saliva samples from 1000 subjects with laboratory confirmed diagnosis of MuSK myasthenia. These saliva samples will be then sent to the laboratory of Bryan Traynor who directs the Neurogenetics Laboratory at NIH. Dr. Traynor will conduct a genome-wide association study (GWAS). This study will provide important information of genetic factors leading to MuSK MG.

GWAS, also known as genome-wide association study, is a study performed to identify genetic characteristics associated with a particular disease. GWAS is currently used across various disciplines in medicine to better understand complex conditions where genetic risk factors contribute to the development of diseases.

Presently, this study has not been done in patients with MuSK MG. Researchers can use information from this study to develop quality treatment and ultimately, move toward targeted therapy approach for patients. We hope to find unique results and further enhance myasthenia research.

03

Conditions studied

  • Myasthenia Gravis
  • MuSK MG
  • MuSK Myasthenia Gravis

Browse trials for

04

Who can participate

Ages eligible
7 Years to 99 Years
Sexes eligible
All
Sampling method
Non-probability sample

Study population

musk myasthenia gravis patients

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

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

Exclusion criteria

Exclusion Criteria:

  • Inability to provide
  • Unwillingness to provide lab results of elevated muscle specific kinase antibody
  • Unwillingness to provide saliva sample
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Observational model
Other
Time perspective
Prospective
Enrollment
1,000 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. GWAS

    identify genetic characteristics associated with musk myasthenia gravis

    Time frame: 2 years

07

Study locations

1 of 1 sites recruiting
08

References and documents

Publications

  • 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. PubMed 25643325 ↗
  • 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. PubMed 32948566 ↗
09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started Aug 2023 (actual). Primary completion is estimated for Aug 2027, 48 months after the start.

Of 62 observational studies under Myasthenia Gravis, half reached primary completion within 52 months of starting (the median), counting those still running; a quarter within 24. This study's planned 48 months is close to that.

How these figures are worked out, and which studies are left out of them.

Registered
Feb 6, 2024
First posted
Feb 14, 2024
StartActual
Aug 23, 2023
Primary completionEst.
Aug 23, 2027
CompletionEst.
Dec 31, 2027
Last update
Aug 5, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Aug 5, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT06259071
Responsible party
Sponsor
First posted
Feb 14, 2024
Start date
Aug 23, 2023
Primary completion
Aug 23, 2027 (estimated)
Completion
Dec 31, 2027 (estimated)
Last update
Aug 5, 2026

Study contacts

Gulsen Oztosun, MD
Contact
musk1000@mfa.gwu.edu
202-677-6109

Oversight

Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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