Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
argenx
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
Eligibility
- Age range
- 2+ years
- Sex
- All
- Healthy volunteers
- No
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), particip…
Locations (20)
- UC Davis Health - UC Davis Health Midtown Ambulatory Care CenterSacramento, California
- Ann and Robert H Lurie Children's Hospital of Chicago - Main HospitalChicago, Illinois
- Hospital Sisters Health System (HSHS) - St Elizabeth's HospitalO'Fallon, Illinois
- Medical University of ViennaVienna
- The Ottawa Hospital - Civic CampusOttawa
- CHU Bordeaux - Groupe Hospitalier Pellegrin - NeurologyBordeaux