A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
- Congenital Myasthenic Syndrome
At a glance
- Phase
- Phase not stated
- Study type
- Observational
- Sponsor
- argenx
- Enrolment target
- 100
- Started
- 13 February 2024
- Main results due
- June 2027
- Study sites
- 33
- Registry updated
- 25 September 2026
Can you take part?
- Aged 2 years and over.
- Open to any sex.
- You need the condition being studied — healthy volunteers are not accepted.
These are the headline rules only. Every study has a longer list, and whether you are eligible is decided by the research team at the site — never by this page.
Read the full eligibility criteria
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), participant must have been receiving the medication for ≥3 months before screening/baseline Exclusion Criteria: * 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
What this study is about
In the sponsor’s own words, from the registry.
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
Study sites(33)
UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
Sacramento, California, United States
Recruiting
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
Chicago, Illinois, United States
Recruiting
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
O'Fallon, Illinois, United States
Recruiting
Harvard Medical School - Boston Children's Hospital
Boston, Massachusetts, United States
Recruiting
Mayo Clinic
Rochester, Minnesota, United States
Active, not recruiting
Ohio State Martha Moorehouse
Columbus, Ohio, United States
Recruiting
The Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, United States
Recruiting
Medical University of Vienna
Vienna, Austria
Recruiting
Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel
Brussels, Anderlecht, Belgium
Recruiting
Pseg Centro De Pesquisa ClinicaS.A
São Paulo, Brazil
Recruiting
Universidade de Sao Paulo (USP) Hospital das Clinicas da Faculdade de Medicina (HCFMUSP)
São Paulo, Brazil
Recruiting
The Children's Hospital of Eastern (CHEO), Ottawa
Ottawa, Ontario, Canada
Recruiting
The Ottawa Hospital - Civic Campus
Ottawa, Canada
Recruiting
CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology
Bordeaux, France
Recruiting
Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology
Bron, France
Recruiting
CHU Lille Hopital Salengro - Neurology
Lille, France
Recruiting
CHU Timone
Marseille, France
Recruiting
Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
Paris, France
Recruiting
Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre
Strasbourg, France
Recruiting
Charite - Universitaetsmedizin Berlin
Berlin, Germany
Recruiting
UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH
Bochum, Germany
Recruiting
Universitaetsklinikum Essen (AoR)
Essen, Germany
Recruiting
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy
Recruiting
National Center Hospital, National Center of Neurology and Psychiatry
Kodaira, Japan
Recruiting
National Hospital Organization Akita Hospital - Neurology
Yurihonjō, Japan
Recruiting
Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz
Bydgoszcz, Poland
Recruiting
Centrum Medyczne Neurologia Slaska - Neurology
Katowice, Poland
Recruiting
Uniwersyteckie Centrum Kliniczne Warszawskiego Uniwersytetu Medycznego
Warsaw, Poland
Active, not recruiting
Hospital Sant Joan de Deu - Pediatric Neurology
Esplugues de Llobregat, Spain
Recruiting
Hospital Universitario 12 de Octubre
Madrid, Spain
Recruiting
Hospital Universitari i Politecnic La Fe
Valencia, Spain
Recruiting
Ulster Hospital
Dundonald, United Kingdom
Recruiting
Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
Oxford, United Kingdom
Recruiting
Showing 33 of 33 sites. 31 of the 33 sites on this study are recruiting right now — a site can stop enrolling while the study as a whole is still open.
Source: ClinicalTrials.gov record NCT06078553. Trialion does not run this study, is not paid to refer anyone to it, and cannot enrol you. Eligibility is always decided by the research team at the site.
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