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NCT06078553Recruiting

A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4

argenx

Start Date

2/13/2024

Completion Date

6/1/2027

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 Criteria

Age Range: 2 years to No maximum

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

Interested in This Trial?

Contact the trial locations directly using the information below to learn more about enrollment.

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Conditions

Congenital Myasthenic Syndrome

Locations

UC Davis Health - UC Davis Health Midtown Ambulatory Care Center

Sacramento, California 95816

United States

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

Chicago, Illinois 60611

United States

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

O'Fallon, Illinois 62269

United States

Harvard Medical School - Boston Children's Hospital

Boston, Massachusetts 02115

United States

Ohio State Martha Moorehouse

Columbus, Ohio 43221

United States

The Children's Hospital of Philadelphia (CHOP)

Philadelphia, Pennsylvania 19104

United States

Medical University of Vienna

Vienna, 1090

Austria

Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel

Brussels, Anderlecht 1070

Belgium

Pseg Centro De Pesquisa ClinicaS.A

São Paulo, 04038-002

Brazil

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

São Paulo, 05403-900

Brazil

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

Ottawa, Ontario K1H8L1

Canada

The Ottawa Hospital - Civic Campus

Ottawa, K1Y 4E9

Canada

CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology

Bordeaux, 33076

France

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

Bron, 69500

France

CHU Lille Hopital Salengro - Neurology

Lille, 59037

France

CHU Timone

Marseille, 13385

France

Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere

Paris, 75013

France

Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre

Strasbourg, 67000

France

Charite - Universitaetsmedizin Berlin

Berlin, 10117

Germany

UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH

Bochum, 44789

Germany

Universitaetsklinikum Essen (AoR)

Essen, 45147

Germany

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, 20133

Italy

National Center Hospital, National Center of Neurology and Psychiatry

Kodaira, 187-8551

Japan

National Hospital Organization Akita Hospital - Neurology

Yurihonjō, 018-1393

Japan

Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz

Bydgoszcz, 85-065

Poland

Centrum Medyczne Neurologia Slaska - Neurology

Katowice, 40-689

Poland

Uniwersyteckie Centrum Kliniczne Warszawskiego Uniwersytetu Medycznego

Warsaw, 02-097

Poland

Hospital Sant Joan de Deu - Pediatric Neurology

Esplugues de Llobregat, 08950

Spain

Hospital Universitario 12 de Octubre

Madrid, 28041

Spain

Hospital Universitari i Politecnic La Fe

Valencia, 46026

Spain

Ulster Hospital

Dundonald, BT16 1RH

United Kingdom

Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital

Oxford, OX3 9DU

United Kingdom