MedDataX Logo

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

NCT ID: NCT06078553

Last Updated: 2025-12-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-02-13

Study Completion Date

2027-06-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Congenital Myasthenic Syndrome

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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
Minimum Eligible Age

2 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

argenx

INDUSTRY

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

UC Davis Health - UC Davis Health Midtown Ambulatory Care Center

Sacramento, California, United States

Site Status RECRUITING

Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital

Chicago, Illinois, United States

Site Status RECRUITING

Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital

O'Fallon, Illinois, United States

Site Status RECRUITING

Medical University of Vienna

Vienna, , Austria

Site Status RECRUITING

The Ottawa Hospital - Civic Campus

Ottawa, , Canada

Site Status RECRUITING

CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology

Bordeaux, , France

Site Status RECRUITING

Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology

Bron, , France

Site Status RECRUITING

CHU Lille Hopital Salengro - Neurology

Lille, , France

Site Status RECRUITING

CHU Timone

Marseille, , France

Site Status RECRUITING

Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere

Paris, , France

Site Status RECRUITING

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, , Italy

Site Status RECRUITING

Centrum Medyczne Neurologia Slaska - Neurology

Katowice, , Poland

Site Status RECRUITING

Hospital Sant Joan de Deu - Pediatric Neurology

Esplugues de Llobregat, , Spain

Site Status RECRUITING

Hospital Universitari i Politecnic La Fe

Valencia, , Spain

Site Status RECRUITING

Ulster Hospital

Dundonald, , United Kingdom

Site Status RECRUITING

Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital

Oxford, , United Kingdom

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

United States Austria Canada France Italy Poland Spain United Kingdom

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Sabine Coppieters, MD

Role: CONTACT

Phone: 857-350-4834

Email: [email protected]

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Ricardo Marselli, MD

Role: primary

Nancy Kuntz, MD

Role: primary

Raghav Govindarajan, MD

Role: primary

Martin Krenn, MD

Role: primary

Hanns Lochmuller, MD

Role: primary

Guilhem Sole, MD

Role: primary

Francoise Bouhour, MD

Role: primary

Celine Tard, MD

Role: primary

Shahram Attarian, MD

Role: primary

Guillaume Bassez, MD

Role: primary

Lorenzo Maggi, MD

Role: primary

Marek Smilowski, MD

Role: primary

Andres Nascimento Osorio, MD

Role: primary

Nuria Muelas Gomez, MD

Role: primary

John McConville, MD

Role: primary

Jacqueline Palace, MD

Role: primary

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

ARGX-119-NIS-2301

Identifier Type: -

Identifier Source: org_study_id