Researchers track rare muscle disease to uncover its secrets

NCT ID NCT06078553

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

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.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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.

Our safety recommendation!

By submitting, you agree to our Terms of use

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.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

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

    RECRUITING

    Chicago, Illinois, 60611, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere

    RECRUITING

    Paris, 75013, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology

    RECRUITING

    Bordeaux, 33076, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • CHU Lille Hopital Salengro - Neurology

    RECRUITING

    Lille, 59037, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • CHU Timone

    RECRUITING

    Marseille, 13385, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre

    RECRUITING

    Strasbourg, 67000, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Centrum Medyczne Neurologia Slaska - Neurology

    RECRUITING

    Katowice, 40-689, Poland

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Charite - Universitaetsmedizin Berlin

    RECRUITING

    Berlin, 10117, Germany

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Fondazione IRCCS Istituto Neurologico Carlo Besta

    RECRUITING

    Milan, 20133, Italy

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Harvard Medical School - Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel

    RECRUITING

    Brussels, Anderlecht, 1070, Belgium

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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

    RECRUITING

    Bron, 69500, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Hospital Sant Joan de Deu - Pediatric Neurology

    RECRUITING

    Esplugues de Llobregat, 08950, Spain

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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

    RECRUITING

    O'Fallon, Illinois, 62269, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Hospital Universitari i Politecnic La Fe

    RECRUITING

    Valencia, 46026, Spain

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Hospital Universitario 12 de Octubre

    RECRUITING

    Madrid, 28041, Spain

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Medical University of Vienna

    RECRUITING

    Vienna, 1090, Austria

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz

    RECRUITING

    Bydgoszcz, 85-065, Poland

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • National Center Hospital, National Center of Neurology and Psychiatry

    RECRUITING

    Kodaira, 187-8551, Japan

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • National Hospital Organization Akita Hospital - Neurology

    RECRUITING

    Yurihonjō, 018-1393, Japan

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Ohio State Martha Moorehouse

    RECRUITING

    Columbus, Ohio, 43221, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital

    RECRUITING

    Oxford, OX3 9DU, United Kingdom

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Pseg Centro De Pesquisa ClinicaS.A

    RECRUITING

    São Paulo, 04038-002, Brazil

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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

    RECRUITING

    Ottawa, Ontario, K1H8L1, Canada

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • The Children's Hospital of Philadelphia (CHOP)

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • The Ottawa Hospital - Civic Campus

    RECRUITING

    Ottawa, K1Y 4E9, Canada

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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

    RECRUITING

    Sacramento, California, 95816, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH

    RECRUITING

    Bochum, 44789, Germany

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Ulster Hospital

    RECRUITING

    Dundonald, BT16 1RH, United Kingdom

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Universitaetsklinikum Essen (AoR)

    RECRUITING

    Essen, 45147, Germany

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Uniwersyteckie Centrum Kliniczne Warszawskiego Uniwersytetu Medycznego

    ACTIVE_NOT_RECRUITING

    Warsaw, 02-097, Poland