Status:
RECRUITING
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Lead Sponsor:
argenx
Conditions:
Congenital Myasthenic Syndrome
Eligibility:
All Genders
2+ years
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 ...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
February 13 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
June 1 2027
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT06078553
Start Date
February 13 2024
End Date
June 1 2027
Last Update
December 19 2025
Active Locations (16)
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1
UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
Sacramento, California, United States, 95816
2
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
Chicago, Illinois, United States, 60611
3
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
O'Fallon, Illinois, United States, 62269
4
Medical University of Vienna
Vienna, Austria, 1090