Actively Recruiting
Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Led by argenx · Updated on 2026-06-03
100
Participants Needed
30
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to understand disease activity in patients with Congenital Myasthenic Syndromes (CMS) caused by mutations in the genes DOK7, MUSK, AGRN, or LRP4. It will evaluate symptoms and quality of life in these patients to gather important information about their condition. The study is observational and collects both retrospective and prospective data to better comprehend CMS. Participants will attend up to four study visits where clinical assessments will be performed. These assessments include evaluating changes in health status related to CMS and collecting data on diagnosis, healthcare use, and medications over a period of up to 12 months. Researchers will also monitor various scores related to muscle strength, daily living activities, fatigue, and quality of life. During the study, participants will undergo evaluations such as the Quantitative Myasthenia Gravis score, MG-ADL, PROMIS-GHS, PROMIS-DFL, EQ-5D-5L, 3TUG, and Neuro-QoL Fatigue score to measure their symptoms and well-being. The study aims to summarize these outcomes and track changes over a year. Participation involves attending scheduled visits for assessments and providing clinical information to help researchers understand CMS progression better.
CONDITIONS
Brief 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...
- Can understand the study and provide written informed consent or assent
- Male or female aged 2 years or older at consent
- Diagnosis of CMS due to 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 or older)
- For those taking oral beta agonists (e.g., albuterol, salbutamol, ephedrine), must have been on medication for at least 3 months before screening
You will not qualify if you...
- Any medical condition that might interfere with accurate CMS assessment, as judged by the investigator
- Currently participating in any interventional clinical study with a study drug
- Diagnosis of CMS due to mutations in genes other than DOK7, MUSK, AGRN, or LRP4
AI-Screening
AI-Powered Screening
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Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 12 months
Participants are observed to collect data on diagnosis, health care utilization, medications, and changes in health status related to Congenital Myasthenic Syndromes (CMS).
Periodic visits for data collection over 12 months
Trial Site Locations
Total: 30 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
Harvard Medical School - Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
5
Ohio State Martha Moorehouse
Columbus, Ohio, United States, 43221
Actively Recruiting
6
The Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
7
Medical University of Vienna
Vienna, Austria, 1090
Actively Recruiting
8
Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel
Brussels, Anderlecht, Belgium, 1070
Actively Recruiting
9
Pseg Centro De Pesquisa ClinicaS.A
São Paulo, Brazil, 04038-002
Actively Recruiting
10
The Children's Hospital of Eastern (CHEO), Ottawa
Ottawa, Ontario, Canada, K1H8L1
Actively Recruiting
11
The Ottawa Hospital - Civic Campus
Ottawa, Canada, K1Y 4E9
Actively Recruiting
12
CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology
Bordeaux, France, 33076
Actively Recruiting
13
Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology
Bron, France, 69500
Actively Recruiting
14
CHU Lille Hopital Salengro - Neurology
Lille, France, 59037
Actively Recruiting
15
CHU Timone
Marseille, France, 13385
Actively Recruiting
16
Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
Paris, France, 75013
Actively Recruiting
17
Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre
Strasbourg, France, 67000
Actively Recruiting
18
Charite - Universitaetsmedizin Berlin
Berlin, Germany, 10117
Actively Recruiting
19
UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH
Bochum, Germany, 44789
Actively Recruiting
20
Universitaetsklinikum Essen (AoR)
Essen, Germany, 45147
Actively Recruiting
21
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy, 20133
Actively Recruiting
22
National Center Hospital, National Center of Neurology and Psychiatry
Kodaira, Japan, 187-8551
Actively Recruiting
23
National Hospital Organization Akita Hospital - Neurology
Yurihonjō, Japan, 018-1393
Actively Recruiting
24
Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz
Bydgoszcz, Poland, 85-065
Actively Recruiting
25
Centrum Medyczne Neurologia Slaska - Neurology
Katowice, Poland, 40-689
Actively Recruiting
26
Hospital Sant Joan de Deu - Pediatric Neurology
Esplugues de Llobregat, Spain, 08950
Actively Recruiting
27
Hospital Universitario 12 de Octubre
Madrid, Spain, 28041
Actively Recruiting
28
Hospital Universitari i Politecnic La Fe
Valencia, Spain, 46026
Actively Recruiting
29
Ulster Hospital
Dundonald, United Kingdom, BT16 1RH
Actively Recruiting
30
Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
Oxford, United Kingdom, OX3 9DU
Actively Recruiting
Research Team
S
Sabine Coppieters, MD
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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