Actively Recruiting
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Led by argenx · Updated on 2026-04-27
100
Participants Needed
20
Research Sites
172 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
CONDITIONS
Official Title
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Able to understand study requirements and provide written informed consent or assent
- Male or female aged 2 years or older at consent or assent
- Diagnosed with CMS caused by biallelic pathogenic mutations in DOK7 or any pathogenic mutations in MUSK, AGRN, or LRP4
- Total Quantitative Myasthenia Gravis (QMG) score of 3 or higher for participants aged 6 years and older
- If taking oral beta agonists (such as albuterol, salbutamol, ephedrine), must have been on medication for at least 3 months before screening or baseline
You will not qualify if you...
- Any medical condition that could interfere with accurate CMS assessment, as judged by the investigator
- Currently participating in any interventional clinical study involving a study drug at the time of consent or assent
- Diagnosis of CMS caused by mutations in genes other than DOK7, MUSK, AGRN, or LRP4
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 20 locations
1
UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
Sacramento, California, United States, 95816
Actively Recruiting
2
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
Chicago, Illinois, United States, 60611
Actively Recruiting
3
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
O'Fallon, Illinois, United States, 62269
Actively Recruiting
4
Medical University of Vienna
Vienna, Austria, 1090
Actively Recruiting
5
The Ottawa Hospital - Civic Campus
Ottawa, Canada, K1Y 4E9
Actively Recruiting
6
CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology
Bordeaux, France, 33076
Actively Recruiting
7
Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology
Bron, France, 69500
Actively Recruiting
8
CHU Lille Hopital Salengro - Neurology
Lille, France, 59037
Actively Recruiting
9
CHU Timone
Marseille, France, 13385
Actively Recruiting
10
Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
Paris, France, 75013
Actively Recruiting
11
Universitaetsklinikum Essen (AoR)
Essen, Germany, 45147
Actively Recruiting
12
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy, 20133
Actively Recruiting
13
National Center Hospital, National Center of Neurology and Psychiatry
Kodaira, Japan, 187-8551
Actively Recruiting
14
National Hospital Organization Akita Hospital - Neurology
Yurihonjō, Japan, 018-1393
Actively Recruiting
15
Centrum Medyczne Neurologia Slaska - Neurology
Katowice, Poland, 40-689
Actively Recruiting
16
Hospital Sant Joan de Deu - Pediatric Neurology
Esplugues de Llobregat, Spain, 08950
Actively Recruiting
17
Hospital Universitario 12 de Octubre
Madrid, Spain, 28041
Actively Recruiting
18
Hospital Universitari i Politecnic La Fe
Valencia, Spain, 46026
Actively Recruiting
19
Ulster Hospital
Dundonald, United Kingdom, BT16 1RH
Actively Recruiting
20
Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
Oxford, United Kingdom, OX3 9DU
Actively Recruiting
Research Team
S
Sabine Coppieters, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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