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

Recruiting now

Conditions studied: Congenital Myasthenic Syndrome

In brief

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

Key facts

Study ID

NCT06078553

Run by

argenx

People needed

100

Starts

2024-02-13

Expected to finish

2027-06-01

Last updated by the study team

2026-07-22

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital — Oxford, United Kingdom (enrolling)
• Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital — Chicago, Illinois, United States (enrolling)
• Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital — O'Fallon, Illinois, United States (enrolling)
• Harvard Medical School - Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)
• Ohio State Martha Moorehouse — Columbus, Ohio, United States (enrolling)
• The Children's Hospital of Philadelphia (CHOP) — Philadelphia, Pennsylvania, United States (enrolling)
• Medical University of Vienna — Vienna, Austria (enrolling)
• Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel — Brussels, Anderlecht, Belgium (enrolling)
• Pseg Centro De Pesquisa ClinicaS.A — São Paulo, Brazil (enrolling)
• Universidade de Sao Paulo (USP) Hospital das Clinicas da Faculdade de Medicina (HCFMUSP) — São Paulo, Brazil (enrolling)
• The Children's Hospital of Eastern (CHEO), Ottawa — Ottawa, Ontario, Canada (enrolling)
• The Ottawa Hospital - Civic Campus — Ottawa, Canada (enrolling)
• CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology — Bordeaux, France (enrolling)
• Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology — Bron, France (enrolling)
• CHU Lille Hopital Salengro - Neurology — Lille, France (enrolling)
• CHU Timone — Marseille, France (enrolling)
• Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere — Paris, France (enrolling)
• Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre — Strasbourg, France (enrolling)
• Charite - Universitaetsmedizin Berlin — Berlin, Germany (enrolling)
• UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH — Bochum, Germany (enrolling)
• Universitaetsklinikum Essen (AoR) — Essen, Germany (enrolling)
• Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan, Italy (enrolling)
• National Center Hospital, National Center of Neurology and Psychiatry — Kodaira, Japan (enrolling)
• National Hospital Organization Akita Hospital - Neurology — Yurihonjō, Japan (enrolling)
• Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz — Bydgoszcz, Poland (enrolling)

Full record on ClinicalTrials.gov

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