Clinical Trials in France / NCT06078553
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
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
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)
| Facility | City | Region | Status |
|---|---|---|---|
| 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 |
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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