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

RecruitingObservational study

Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4

Who can join

Ages 2 and older · All sexes

Full eligibility criteria
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

About the study

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

Sponsor: argenx · Participants: 100 · Started: Feb 13, 2024

Contact the study team

Official record on ClinicalTrials.gov — NCT06078553

Locations in the U.S.

CaliforniaUC Davis Health - UC Davis Health Midtown Ambulatory Care Center, Sacramento
IllinoisAnn and Robert H Lurie Children's Hospital of Chicago - Main Hospital, Chicago
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital, O'Fallon
MassachusettsHarvard Medical School - Boston Children's Hospital, Boston
OhioOhio State Martha Moorehouse, Columbus
PennsylvaniaThe Children's Hospital of Philadelphia (CHOP), Philadelphia

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.