Меню
Идёт набор NCT07488806

Natural History Study for Patients With Nemaline Myopathy in Spain

— Наблюдательное Nemaline Myopathy Myopathies Myopathic Conditions NEB

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: Muscle Ultrasound, Motor function scales, Complete physical examination, Ventilatory/ respiratory, Cardiac and other support assessment.
Кому может быть актуально
Состояния в реестре: Nemaline Myopathy, Myopathies, Myopathic Conditions, NEB. Базовые параметры: Без ограничений · Все.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
Испания
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

Не всё понятно в терминах? Прочитайте наш гид для пациентов →

Обзор

The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.

Подробное описание

The aims of the study are:

* Identify the specific genes and mutations responsible for NM in Spain. * Define the in-depth phenotyping of NM and the phenotype-genotype relationship. * Characterize the natural history of NM through the systematic collection of clinical (retrospective and prospective data), functional, and respiratory data in diagnosed patients in order to:

* Describe the progression of the disease without disease-modifying therapies. * Identify reliable biomarkers and outcome measures for future clinical trials. * Align the national protocol with international efforts to generate comparable data.

Вмешательства

  • Диагностический тест Muscle Ultrasound
    Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
  • Диагностический тест Motor function scales
    Evaluation of patients motor function using motor scales (CHOP-INTEND, MFM32, HINE-2, NSAA, PDSM-3, RFF, 10m walk, PUL)
  • Другое Complete physical examination
    Complete physical evaluations including muscle power and goniometry measurements
  • Другое Ventilatory/ respiratory, Cardiac and other support assessment
    Assessment of ventilatory, cardiac, nutritional, and other support needs
  • Другое QOL assessment, Neuropsychological
    Assessment of quality of life
  • Устройство Digital Biomarkers
    Video/photos with the aim is to record actions such as lifting a glass, raising arms above the head, getting up from the floor or a chair, walking, or running, in order to later analyze in detail how these movements are performed.
  • Другое Oromotor function and nutrition
    Assessment of bulbar funcionality: feeding devices, nutritional status.
  • Другое Motor Milestone Assessments
    Motor milestones age of acquisition and loss (if applicable)

Первичные конечные точки

  • Observe changes in muscle echogenicity by muscle ultrasound. [Срок оценки: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in motor function using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) [Срок оценки: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in motor function using the Hammersmith Infant Neurological Examination Section 2 (HINE-2) [Срок оценки: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in Peabody Developmental Motor Scales (PDMS-3) Scale Score [Срок оценки: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in motor function using the Motor Function Measure (MFM32) Scale Score [Срок оценки: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in motor function using the North Star Ambulatory Assessment (NSAA) score [Срок оценки: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in the Performance of Upper Limb (PUL) score [Срок оценки: Change from baseline through study completion, an average of 5 years]
Вторичные конечные точки (3)
  • Observe the natural clinical progression in respiratory function. [Срок оценки: Change from baseline through study completion, an average of 5 years]
  • Observe changes in Nutritional Status [Срок оценки: Change from baseline through study completion, an average of 5 years]
  • Observe changes in Quality of Life [Срок оценки: Change from baseline through study completion, an average of 5 years]

Критерии участия

Критерии включения

  • Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
  • Signed informed consent by the patient or Legal Authority Responsible, and/or assent by the subject (in pediatric population).

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

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

Испания · 1 центр
  • University Hospital Vall d'Hebron — Barcelona

Идентификаторы

NCT: NCT07488806 · PR(AMI)251/2025

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗