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

NCT06078553 | Recruiting

• 1 other identifier: ARGX-119-NIS-2301
• Study Type: observational
• Target: 100
• Locations: 10 countries
• Sites: 20

Brief 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

Conditions

Congenital Myasthenic Syndrome

Outcome Measures

Primary Outcomes (4)

• 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

Secondary Outcomes (7)

• Change from baseline for QMG total score, each component score, and raw values

  Up to 12 months

• Change from baseline for MG-ADL total score

  Up to 12 months

• Change from baseline for PROMIS-GHS

  Up to 12 months

• Change from baseline for PROMIS-DFL

  Up to 12 months

• Change from baseline for EQ-5D-5L

  Up to 12 months

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4 receiving standard of care at their treating physician

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

Sponsors & Collaborators

• argenx: lead

Study Sites (20)

UC Davis Health - UC Davis Health Midtown Ambulatory Care Center

Sacramento, California, 95816, United States

RECRUITING

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

Chicago, Illinois, 60611, United States

RECRUITING

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

O'Fallon, Illinois, 62269, United States

RECRUITING

Medical University of Vienna

Vienna, 1090, Austria

RECRUITING

The Ottawa Hospital - Civic Campus

Ottawa, K1Y 4E9, Canada

RECRUITING

CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology

Bordeaux, 33076, France

RECRUITING

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

Bron, 69500, France

RECRUITING

CHU Lille Hopital Salengro - Neurology

Lille, 59037, France

RECRUITING

CHU Timone

Marseille, 13385, France

RECRUITING

Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere

Paris, 75013, France

RECRUITING

Universitaetsklinikum Essen (AoR)

Essen, 45147, Germany

RECRUITING

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, 20133, Italy

RECRUITING

National Center Hospital, National Center of Neurology and Psychiatry

Kodaira, 187-8551, Japan

RECRUITING

National Hospital Organization Akita Hospital - Neurology

Yurihonjō, 018-1393, Japan

RECRUITING

Centrum Medyczne Neurologia Slaska - Neurology

Katowice, 40-689, Poland

RECRUITING

Hospital Sant Joan de Deu - Pediatric Neurology

Esplugues de Llobregat, 08950, Spain

RECRUITING

Hospital Universitario 12 de Octubre

Madrid, 28041, Spain

RECRUITING

Hospital Universitari i Politecnic La Fe

Valencia, 46026, Spain

RECRUITING

Ulster Hospital

Dundonald, BT16 1RH, United Kingdom

RECRUITING

Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital

Oxford, OX3 9DU, United Kingdom

RECRUITING

Related Links

• Study website

MeSH Terms

Conditions

Myasthenic Syndromes, Congenital

Condition Hierarchy (Ancestors)

Neuromuscular Junction Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Sabine Coppieters, MD

CONTACT

857-350-4834; clinicaltrials@argenx.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 8, 2023
• First Posted: October 12, 2023
• Study Start: February 13, 2024
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: April 27, 2026

Record last verified: 2026-04

Locations

IT (1); CA (1); PL (1); FR (5); AU (1); ES (3); US (3); GB (2); JP (2); DE (1)