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

Официальное название

Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4

Обзор

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

Первичные конечные точки

• Summary statistics of retrospective and prospective collection of data on diagnosis. [Срок оценки: Up to 12 months]
• Summary statistics of retrospective and prospective collection of data on health care utilization. [Срок оценки: Up to 12 months]
• Summary statistics of retrospective and prospective collection of data on medications. [Срок оценки: Up to 12 months]
• Summary statistics of retrospective and prospective collection of data on change in health status related to CMS [Срок оценки: Up to 12 months]

Вторичные конечные точки (7)

• Change from baseline for QMG total score, each component score, and raw values [Срок оценки: Up to 12 months]
• Change from baseline for MG-ADL total score [Срок оценки: Up to 12 months]
• Change from baseline for PROMIS-GHS [Срок оценки: Up to 12 months]
• Change from baseline for PROMIS-DFL [Срок оценки: Up to 12 months]
• Change from baseline for EQ-5D-5L [Срок оценки: Up to 12 months]
• Change from baseline for 3TUG [Срок оценки: Up to 12 months]
• Change from baseline for Neuro-QoL Fatigue score [Срок оценки: Up to 12 months]

Критерии участия

Критерии включения

• 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

Критерии исключения

• 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

США · 6 центров

• UC Davis Health - UC Davis Health Midtown Ambulatory Care Center — Sacramento
• Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital — Chicago
• Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital — O'Fallon
• Harvard Medical School - Boston Children's Hospital — Boston
• Ohio State Martha Moorehouse — Columbus
• The Children's Hospital of Philadelphia (CHOP) — Philadelphia

Франция · 6 центров

• CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology — Bordeaux
• Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology — Bron
• CHU Lille Hopital Salengro - Neurology — Lille
• CHU Timone — Marseille
• Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere — Paris
• Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre — Strasbourg

Германия · 3 центра

• Charite - Universitaetsmedizin Berlin — Berlin
• UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH — Bochum
• Universitaetsklinikum Essen (AoR) — Essen

Польша · 3 центра

• Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz — Bydgoszcz
• Centrum Medyczne Neurologia Slaska - Neurology — Katowice
• Uniwersyteckie Centrum Kliniczne Warszawskiego Uniwersytetu Medycznego — Warsaw

Испания · 3 центра

• Hospital Sant Joan de Deu - Pediatric Neurology — Esplugues de Llobregat
• Hospital Universitario 12 de Octubre — Madrid
• Hospital Universitari i Politecnic La Fe — Valencia

Бразилия · 2 центра

• Pseg Centro De Pesquisa ClinicaS.A — São Paulo
• Universidade de Sao Paulo (USP) Hospital das Clinicas da Faculdade de Medicina (HCFMUSP) — São Paulo

Канада · 2 центра

• The Children's Hospital of Eastern (CHEO), Ottawa — Ottawa
• The Ottawa Hospital - Civic Campus — Ottawa

Япония · 2 центра

• National Center Hospital, National Center of Neurology and Psychiatry — Kodaira
• National Hospital Organization Akita Hospital - Neurology — Yurihonjō

Великобритания · 2 центра

• Ulster Hospital — Dundonald
• Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital — Oxford

Австрия · 1 центр

• Medical University of Vienna — Vienna

Бельгия · 1 центр

• Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel — Brussels

Италия · 1 центр

• Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan

Идентификаторы

NCT: NCT06078553 · ARGX-119-NIS-2301

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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