Recruiting

Observational StudyA Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4

Sponsor:

argenx

Code:

NCT06078553

Conditions

Congenital Myasthenic Syndrome

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4.

More information can be found here: https://clinicaltrials.argenx.com/cms

Conditions

Congenital Myasthenic Syndrome

Study ID

NCT06078553

Start date

Feb 13, 2024

Status verified date

Jul, 2026

Completion date

Jun, 2027

Anticipated

Primary completion date

Jun, 2027

Anticipated

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Inclusion Criteria:

Can understand the requirements of the study and can provide written informed consent/assent, and willingness and ability to comply with the study protocol procedures
Is male or female and aged ≥2 years at the time of providing informed consent/assent
Has a diagnosis of CMS due to biallelic pathogenic mutations in DOK7 or any pathogenic mutations in MUSK, AGRN, or LRP4
Has a total Quantitative Myasthenia Gravis (QMG) score of ≥3 (applies only to participants aged ≥6 years)
For participants taking oral beta agonists (eg, albuterol, salbutamol, ephedrine), participant must have been receiving the medication for ≥3 months before screening/baseline

Exclusion Criteria:

Known medical condition that would interfere with an accurate assessment of CMS, in the investigator's opinion
Is currently participating in any interventional clinical study with a study drug at the time of providing informed consent/assent
Diagnosis of CMS due to mutation of any gene other than DOK7, MUSK, AGRN, or LRP4

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

Summary statistics of retrospective and prospective collection of data on diagnosis. [ Time Frame: Up to 12 months ]
Summary statistics of retrospective and prospective collection of data on health care utilization. [ Time Frame: Up to 12 months ]
Summary statistics of retrospective and prospective collection of data on medications. [ Time Frame: Up to 12 months ]
Summary statistics of retrospective and prospective collection of data on change in health status related to CMS [ Time Frame: Up to 12 months ]

Central Contacts and Locations

Central contacts

Sabine Coppieters, MD

857-350-4834 clinicaltrials@argenx.com

Locations

UC Davis Health - UC Davis Health Midtown Ambulatory Care Center

Recruiting

Sacramento, California, United States, 95816

Contacts

Ricardo Marselli, MD

857-350-4834 clinicaltrials@argenx.com

Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital

Recruiting

Chicago, Illinois, United States, 60611

Contacts

Nancy Kuntz, MD

857-350-4834 clinicaltrials@argenx.com

Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital

Recruiting

O'Fallon, Illinois, United States, 62269

Contacts

Raghav Govindarajan, MD

857-350-4834 clinicaltrials@argenx.com

Harvard Medical School - Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Partha Ghosh, MD

857-350-4834 clinicaltrials@argenx.com

+1 857-350-4834 clinicaltrials@argenx.com

Ohio State Martha Moorehouse

Recruiting

Columbus, Ohio, United States, 43221

Contacts

Miriam Freimer, MD

+1 857-350-4834 clinicaltrials@argenx.com

The Children's Hospital of Philadelphia (CHOP)

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

John Brandsema, MD

+1 857-350-4834 clinicaltrials@argenx.com

The Children's Hospital of Eastern (CHEO), Ottawa

Recruiting

Ottawa, Ontario, Canada, K1H8L1

Contacts

Hanns Lochmuller, MD

857-350-4834 clinicaltrials@argenx.com

The Ottawa Hospital - Civic Campus

Recruiting

Ottawa, Canada, K1Y 4E9

Contacts

Hanns Lochmuller, MD

857-350-4834 clinicaltrials@argenx.com

More Information

Sponsor

argenx

Last update posted

Jul 22, 2026

Last verified

Jul, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by argenx on 2026-07-22.