Observing the natural history of congenital myasthenic syndromes caused by specific genetic mutations
Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
This study is looking to see how congenital myasthenic syndromes caused by certain genetic changes affect people’s symptoms and quality of life over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | argenx Industry-sponsored |
| Locations | 20 sites (Sacramento, California and 19 other locations) |
| Trial ID | NCT06078553 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect clinical assessments from participants diagnosed with congenital myasthenic syndromes (CMS) due to mutations in DOK7, MUSK, AGRN, or LRP4. Participants will attend up to four study visits where their symptoms and quality of life will be evaluated to better understand the disease activity associated with these genetic mutations. The study focuses on gathering data that could inform future treatment approaches and improve patient care for those affected by CMS.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 2 years and older with a diagnosis of CMS due to specific genetic mutations.
Not a fit: Patients with CMS due to mutations in genes other than DOK7, MUSK, AGRN, or LRP4 may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of congenital myasthenic syndromes, leading to improved management and treatment strategies for affected patients.
How similar studies have performed: While this study focuses on a specific genetic subset of CMS, similar observational studies have provided valuable insights into other genetic conditions, suggesting potential for success.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Sacramento, California and 19 other locations
- 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)
- Medical University of Vienna — Vienna, Austria (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)
- 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)
- Centrum Medyczne Neurologia Slaska - Neurology — Katowice, Poland (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)
Study contacts
- Study coordinator: Sabine Coppieters, MD
- Email: clinicaltrials@argenx.com
- Phone: 857-350-4834
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.