Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

Researchers track rare muscle disease to uncover its secrets

NCT ID NCT06078553

Knowledge-focused Sponsor: argenx Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 26, 2026 · Last updated Jul 23, 2026 · Updated 3 times

Summary

This study is for people with a rare genetic muscle condition called congenital myasthenic syndrome (CMS). It does not test any new drug or treatment. Instead, researchers will collect information from up to 100 participants over 4 visits to better understand how the disease affects symptoms and quality of life. The goal is to learn more about the natural course of CMS caused by specific gene mutations.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 100 people

The number the study aims to enrol. It can still change while the study runs.

Started

Feb 2024

Expected to finish

Jun 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

2 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Congenital myasthenic syndrome are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

congenital myasthenic syndrome congenital myasthenic syndrome 10 congenital myasthenic syndrome 17 congenital myasthenic syndrome 8 congenital myasthenic syndrome 9

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Congenital myasthenic syndrome

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    31 sites in 12 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

Locations

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

    RECRUITING

    Chicago, Illinois, 60611, United States

    Contact Email: •••••@•••••

  • Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere

    RECRUITING

    Paris, 75013, France

    Contact Email: •••••@•••••

  • CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology

    RECRUITING

    Bordeaux, 33076, France

    Contact Email: •••••@•••••

  • CHU Lille Hopital Salengro - Neurology

    RECRUITING

    Lille, 59037, France

    Contact Email: •••••@•••••

  • CHU Timone

    RECRUITING

    Marseille, 13385, France

    Contact Email: •••••@•••••

  • Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre

    RECRUITING

    Strasbourg, 67000, France

    Contact Email: •••••@•••••

  • Centrum Medyczne Neurologia Slaska - Neurology

    RECRUITING

    Katowice, 40-689, Poland

    Contact Email: •••••@•••••

  • Charite - Universitaetsmedizin Berlin

    RECRUITING

    Berlin, 10117, Germany

  • Fondazione IRCCS Istituto Neurologico Carlo Besta

    RECRUITING

    Milan, 20133, Italy

    Contact Email: •••••@•••••

  • Harvard Medical School - Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Email: •••••@•••••

    Contact Email: •••••@•••••

  • Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel

    RECRUITING

    Brussels, Anderlecht, 1070, Belgium

    Contact Email: •••••@•••••

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

    RECRUITING

    Bron, 69500, France

    Contact Email: •••••@•••••

  • Hospital Sant Joan de Deu - Pediatric Neurology

    RECRUITING

    Esplugues de Llobregat, 08950, Spain

    Contact Email: •••••@•••••

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

    RECRUITING

    O'Fallon, Illinois, 62269, United States

    Contact Email: •••••@•••••

  • Hospital Universitari i Politecnic La Fe

    RECRUITING

    Valencia, 46026, Spain

    Contact Email: •••••@•••••

  • Hospital Universitario 12 de Octubre

    RECRUITING

    Madrid, 28041, Spain

    Contact Email: •••••@•••••

  • Medical University of Vienna

    RECRUITING

    Vienna, 1090, Austria

    Contact Email: •••••@•••••

  • Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz

    RECRUITING

    Bydgoszcz, 85-065, Poland

    Contact Email: •••••@•••••

  • National Center Hospital, National Center of Neurology and Psychiatry

    RECRUITING

    Kodaira, 187-8551, Japan

    Contact Email: •••••@•••••

  • National Hospital Organization Akita Hospital - Neurology

    RECRUITING

    Yurihonjō, 018-1393, Japan

    Contact Email: •••••@•••••

  • Ohio State Martha Moorehouse

    RECRUITING

    Columbus, Ohio, 43221, United States

    Contact Email: •••••@•••••

    Contact Email: •••••@•••••

  • Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital

    RECRUITING

    Oxford, OX3 9DU, United Kingdom

    Contact Email: •••••@•••••

  • Pseg Centro De Pesquisa ClinicaS.A

    RECRUITING

    São Paulo, 04038-002, Brazil

    Contact Email: •••••@•••••

  • The Children's Hospital of Eastern (CHEO), Ottawa

    RECRUITING

    Ottawa, Ontario, K1H8L1, Canada

    Contact Email: •••••@•••••

  • The Children's Hospital of Philadelphia (CHOP)

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Email: •••••@•••••

    Contact Email: •••••@•••••

  • The Ottawa Hospital - Civic Campus

    RECRUITING

    Ottawa, K1Y 4E9, Canada

    Contact Email: •••••@•••••

  • UC Davis Health - UC Davis Health Midtown Ambulatory Care Center

    RECRUITING

    Sacramento, California, 95816, United States

    Contact Email: •••••@•••••

  • UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH

    RECRUITING

    Bochum, 44789, Germany

    Contact Email: •••••@•••••

  • Ulster Hospital

    RECRUITING

    Dundonald, BT16 1RH, United Kingdom

    Contact Email: •••••@•••••

  • Universidade de Sao Paulo (USP) Hospital das Clinicas da Faculdade de Medicina (HCFMUSP)

    RECRUITING

    São Paulo, 05403-900, Brazil

  • Universitaetsklinikum Essen (AoR)

    RECRUITING

    Essen, 45147, Germany

    Contact Email: •••••@•••••

  • Uniwersyteckie Centrum Kliniczne Warszawskiego Uniwersytetu Medycznego

    ACTIVE_NOT_RECRUITING

    Warsaw, 02-097, Poland

More trials for these conditions

Other studies related to the condition(s) this trial covers.