Идёт набор NCT07543003

An International Federated Model for Wearable-derived Remote Longitudinal Motor Monitoring in Young Children With Spinal Muscular Atrophy Compared With Healthy Controls: Active-NBS Study (UK)

— Наблюдательное Spinal Muscular Atrophy (SMA)

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: Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
Кому может быть актуально: Состояния в реестре: Spinal Muscular Atrophy (SMA). Базовые параметры: до 4 лет · 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: 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 Prospective, Longitudinal and Decentralised Study Investigating the Motor Development of Patients With Spinal Muscular Atrophy Identified by Newborn Screening Age 4 Years and Below: Active-NBS UK.

Обзор

Active-NBS is a study to evaluate the muscle development of patients with spinal muscular atrophy (SMA) who are diagnosed at birth. Medicines have become available in the last decade, and many patients are treated very early. Treatments are most effective if used before the patient develops symptoms. However, some patients may show symptoms by the time they receive treatment. This means that even with early diagnosis, they might still develop muscle weakness despite treatment. The investigators want to see when the movements of patients diagnosed at birth differ from normal development. This information will help identify the best time to give additional medicines currently being developed to support the muscle. The investigators will track the progress of up to 60 patients over a maximum of 30 months using wearable technologies which are worn at home. The investigators aim to validate their outcomes for use in this age group. The wearable devices are called Syde and Motor Assessment of an Infant in a Jumpsuit (MAIJU). They will be worn at regular intervals during the study and will not involve extra hospital visits for patients. The study will also recruit up to 30 healthy control participants and follow them for up to 30 months. This will help define normal development with use of the Syde device. Active-NBS will be conducted in the UK and internationally using a federated data model. Collaborative sites will collect harmonised data in accordance with the Active-NBS protocol, with data integration and oversight managed by the University of Oxford. International sites may contact the Oxford study team to establish collaboration.

Первичные конечные точки

To validate clinical outcome measures in patients with SMA from 4 months of age. [Срок оценки: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.]

Вторичные конечные точки (2)

To identify and quantify motor developmental delay (Test Cohort). [Срок оценки: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.]
To identify the earliest time-point of future motor impairment (Test cohort). [Срок оценки: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.]

Критерии участия

Inclusion criteria (Test cohort):

Genetically confirmed SMA and number of SMN2 copies available
a. Patients identified by NBS and treated with disease modifying therapy (DMT)

(2)a,i 4 copies or more of SMN2 and not treated with DMT

(2)a,ii less than 4 copies of SMN2 and not treated with DMT

(2)b. Patients diagnosed due to a sibling or alternative means

(2)b,i 4 copies or more of SMN2 and not treated with DMT

(2)b,ii less than 4 copies of SMN2 and not treated with DMT

(3)Patients between 4 months and below 4 years at baseline. Inclusion of patients can be before 4 months of age

(4)Parent(s)/legal guardian(s) able to provide written informed consent prior to the patient's participation in the study

(5)Male or female

Exclusion Criteria (Test cohort):

Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
Currently enrolled in an experimental treatment study

Inclusion criteria (Control):

Typically developing child
Participant between 6 months and 4 years at inclusion
Parent(s)/legal guardian(s) able to provide written informed consent prior to the participation in the study
Male or female

Exclusion criteria (Control):

(1)Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution

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

Здоровые добровольцы: Да