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Идёт набор NCT06581146

A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition

— Наблюдательное X-Linked Myotubular Myopathy

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают
В протоколе указаны: No Intervention.
Кому может быть актуально
Состояния в реестре: X-Linked Myotubular Myopathy. Базовые параметры: до 17 лет · Мужчины.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
США, Канада, Великобритания
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver

Обзор

XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness. There is currently no cure for XLMTM. Ongoing care is needed to manage symptoms and prevent further medical problems from this condition. Recent research shows that individuals with XLMTM often have reduced bile flow which can affect liver and gallbladder health. Bile is a liquid made in the liver that helps digest fat. Ongoing liver health checks may help with the routine care of people with XLMTM. There is a need to understand liver problems that develop in individuals with XLMTM over time. The main aim of the study is to learn how many boys with XLMTM have new cases of liver problems during the study. This study is about collecting information only. This is known as an observational study. The individual's doctor decides on treatment, not the study sponsor (Astellas). In this study, boys under 18 diagnosed with XLMTM will be followed for about 1 year. The health of their liver and gallbladder will be checked about every 6 weeks. This can be done at home, if preferred. A scan called a Fibroscan (also known as transient elastography) will check for signs of scarring in the liver (fibrosis) and the build-up of lipids. It is suggested that each boy will have a Fibroscan when they start the study and another scan when they complete the study. This study will help understand liver, gallbladder, and bile duct issues in individuals with XLMTM over time. The goal is to improve their care and provide information to use in future clinical studies.

Вмешательства

  • Другое No Intervention
    No investigational drug will be administered to participants in this study.

Первичные конечные точки

  • Incidence rate of cholestasis [Срок оценки: Up to Week 48]
  • Point prevalence of cholestasis [Срок оценки: Day 1]
  • Prevalence of cholestasis [Срок оценки: Up to 1 year]
Вторичные конечные точки (9)
  • Genetic variants of MTM1 [Срок оценки: Up to Week 48]
  • Risk of cholestasis temporarily associated with environmental modifiers [Срок оценки: Up to Week 48]
  • Hospitalizations [Срок оценки: Up to Week 48]
  • Duration of Hospitalizations [Срок оценки: Up to Week 48]
  • Emergency room visits [Срок оценки: Up to Week 48]
  • Hepatology specialist visits [Срок оценки: Up to Week 48]
  • Scheduled/unscheduled office visits [Срок оценки: Up to Week 48]
  • Non-study-specified home healthcare visits [Срок оценки: Up to Week 48]
  • Surgeries/procedures [Срок оценки: Up to Week 48]

Критерии участия

Критерии включения

  • Participant has a diagnosis of XLMTM resulting from a genetically confirmed mutation in the MTM1 gene based on genetic test reports.
  • Participant requires some mechanical ventilatory support (e.g., ranging from 24 hours per day full-time mechanical ventilation, to non-invasive support such as continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) during sleeping hours)
  • Participant (as applicable) and/or parent(s)/carer is willing to comply with the recommended schedule of assessments.

Критерии исключения

  • Participant is currently enrolled in an interventional study designed to treat XLMTM.

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
  • Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago
  • Boston Children's Hospital — Boston
  • Cincinnati Children's Hospital Medical Center — Cincinnati
  • Children's Hospital of Philadelphia — Philadelphia
  • UPMC Children's Hospital of Pittsburgh — Pittsburgh
  • University of Utah — Salt Lake City
Великобритания · 3 центра
  • Site GB44006 — Leeds
  • Site GB44003 — London
  • Site GB44005 — Oxford
Канада · 1 центр
  • Site CA15001 — Toronto

Идентификаторы

NCT: NCT06581146 · 1600-MA-3536

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗