Find Congenital Myasthenic Syndrome Clinical Trials Near You
Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Status: Recruiting
Location: See all (19) locations...
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 2
Healthy Volunteers: f
View:
• 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
Locations
United States
California
UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
RECRUITING
Sacramento
Illinois
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
RECRUITING
Chicago
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
RECRUITING
O'fallon
Other Locations
Austria
Medical University of Vienna
RECRUITING
Vienna
Canada
The Ottawa Hospital - Civic Campus
RECRUITING
Ottawa
France
CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology
RECRUITING
Bordeaux
Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology
RECRUITING
Bron
CHU Lille Hopital Salengro - Neurology
RECRUITING
Lille
CHU Timone
RECRUITING
Marseille
Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
RECRUITING
Paris
Germany
Universitaetsklinikum Essen (AoR)
RECRUITING
Essen
Italy
Fondazione IRCCS Istituto Neurologico Carlo Besta
RECRUITING
Milan
Japan
National Hospital Organization Akita Hospital - Neurology
RECRUITING
Yurihonjō
Poland
Centrum Medyczne Neurologia Slaska - Neurology
RECRUITING
Katowice
Spain
Hospital Sant Joan de Deu - Pediatric Neurology
RECRUITING
Esplugues De Llobregat
Hospital Universitario 12 de Octubre
RECRUITING
Madrid
Hospital Universitari i Politecnic La Fe
RECRUITING
Valencia
United Kingdom
Ulster Hospital
RECRUITING
Dundonald
Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital