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

ClinicalTrials.gov ID

NCT06078553

Lead Sponsor

argenxINDUSTRY

Overall Status

Recruiting

Study Type

Observational

Enrollment

100Estimated

Last Update Posted

Jul 22, 2026Actual

Start Date

Feb 13, 2024Actual

Primary Completion Date

Jun 2027Estimated

Completion Date

Jun 2027Estimated

Official Title

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

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

• Congenital Myasthenic Syndrome

Ages Eligible for Study

Child (0-17)Adult (18-64)Older Adult (65+)

Sexes Eligible for Study

All

Accepts Healthy Volunteers

No

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

Observational Model

Cohort

Time Perspective

Other

Lead Sponsor

argenxINDUSTRY

clinicaltrials@argenx.com857-350-4834

clinicaltrials@argenx.com857-350-4834

clinicaltrials@argenx.com857-350-4834

clinicaltrials@argenx.com857-350-4834

Philipp.Mergenthaler@charite.de

clinicaltrials@argenx.com857-350-4834

clinicaltrials@argenx.com857-350-4834

clinicaltrials@argenx.com857-350-4834

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