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Recruiting Observational

A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4

NCT06078553 · tracked via the Priya Life Science France tracker
Sponsor
Phase
Observational
Started
2024-02-13
Last updated
2026-09-25

Condition(s) studied

Congenital Myasthenic Syndrome

Study 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

Sex
ALL
Min age
2 Years
Max age
—
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), 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

Primary outcome measure(s)

  • Summary statistics of retrospective and prospective collection of data on diagnosis. — Up to 12 months
  • Summary statistics of retrospective and prospective collection of data on health care utilization. — Up to 12 months
  • Summary statistics of retrospective and prospective collection of data on medications. — Up to 12 months
  • Summary statistics of retrospective and prospective collection of data on change in health status related to CMS — Up to 12 months

Trial sites (33)

FacilityCityRegionStatus
UC Davis Health - UC Davis Health Midtown Ambulatory Care Center Sacramento California Recruiting
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital Chicago Illinois Recruiting
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital O'Fallon Illinois Recruiting
Harvard Medical School - Boston Children's Hospital Boston Massachusetts Recruiting
Mayo Clinic Rochester Minnesota Active Not Recruiting
Ohio State Martha Moorehouse Columbus Ohio Recruiting
The Children's Hospital of Philadelphia (CHOP) Philadelphia Pennsylvania Recruiting
Medical University of Vienna Vienna Austria Recruiting
Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel Brussels Anderlecht 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 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
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06078553 on ClinicalTrials.gov ↗ ← All trials in France