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.
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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.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
RECRUITINGChicago, Illinois, 60611, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
RECRUITINGParis, 75013, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology
RECRUITINGBordeaux, 33076, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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CHU Lille Hopital Salengro - Neurology
RECRUITINGLille, 59037, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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CHU Timone
RECRUITINGMarseille, 13385, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre
RECRUITINGStrasbourg, 67000, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Centrum Medyczne Neurologia Slaska - Neurology
RECRUITINGKatowice, 40-689, Poland
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Charite - Universitaetsmedizin Berlin
RECRUITINGBerlin, 10117, Germany
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Fondazione IRCCS Istituto Neurologico Carlo Besta
RECRUITINGMilan, 20133, Italy
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Harvard Medical School - Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel
RECRUITINGBrussels, Anderlecht, 1070, Belgium
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology
RECRUITINGBron, 69500, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Hospital Sant Joan de Deu - Pediatric Neurology
RECRUITINGEsplugues de Llobregat, 08950, Spain
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
RECRUITINGO'Fallon, Illinois, 62269, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Hospital Universitari i Politecnic La Fe
RECRUITINGValencia, 46026, Spain
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Hospital Universitario 12 de Octubre
RECRUITINGMadrid, 28041, Spain
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Medical University of Vienna
RECRUITINGVienna, 1090, Austria
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz
RECRUITINGBydgoszcz, 85-065, Poland
Contact Phone: •••-•••-•••• Email: •••••@•••••
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National Center Hospital, National Center of Neurology and Psychiatry
RECRUITINGKodaira, 187-8551, Japan
Contact Phone: •••-•••-•••• Email: •••••@•••••
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National Hospital Organization Akita Hospital - Neurology
RECRUITINGYurihonjō, 018-1393, Japan
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Ohio State Martha Moorehouse
RECRUITINGColumbus, Ohio, 43221, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
RECRUITINGOxford, OX3 9DU, United Kingdom
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Pseg Centro De Pesquisa ClinicaS.A
RECRUITINGSão Paulo, 04038-002, Brazil
Contact Phone: •••-•••-•••• Email: •••••@•••••
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The Children's Hospital of Eastern (CHEO), Ottawa
RECRUITINGOttawa, Ontario, K1H8L1, Canada
Contact Phone: •••-•••-•••• Email: •••••@•••••
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The Children's Hospital of Philadelphia (CHOP)
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
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The Ottawa Hospital - Civic Campus
RECRUITINGOttawa, K1Y 4E9, Canada
Contact Phone: •••-•••-•••• Email: •••••@•••••
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UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
RECRUITINGSacramento, California, 95816, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
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UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH
RECRUITINGBochum, 44789, Germany
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Ulster Hospital
RECRUITINGDundonald, BT16 1RH, United Kingdom
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Universitaetsklinikum Essen (AoR)
RECRUITINGEssen, 45147, Germany
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Uniwersyteckie Centrum Kliniczne Warszawskiego Uniwersytetu Medycznego
ACTIVE_NOT_RECRUITINGWarsaw, 02-097, Poland