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Идёт набор NCT06581887

Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies

— Наблюдательное DMD BMD

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: Classical conditioning task.
Кому может быть актуально
Состояния в реестре: DMD, BMD. Базовые параметры: 7 лет — 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
Великобритания
Следующий шаг
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Обзор

Study aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task.To better understand how Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) impacts mental health and how to assess it. Participants invited to complete questionnaires about behaviour, cognitive function and social interactions, complete computer tasks and have an optional MRI brain scan,

Подробное описание

The investigation aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome. At the end of the study, the objective is to deliver a comprehensive test battery that is suitable for use in a trial of AON delivery to improve brain function.

Вмешательства

  • Поведенческое Classical conditioning task
    To evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome.

Первичные конечные точки

  • Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus. [Срок оценки: through study completion, an average of 2 years]
Вторичные конечные точки (1)
  • To observe any difference between and within BMD, DMD and control groups in regard to learning, habituation and extinction [Срок оценки: through study completion, an average of 2 years]

Критерии участия

Критерии включения

  • DMD patients:
  • Male
  • Age range 7-17 years
  • A genetically proven diagnosis of DMD.
  • A genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-).
  • Ability to consent/assent

BMD patients:

  • Male
  • Age range 7-17 years
  • A genetically proven diagnosis of BMD.
  • A genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2).
  • Ability to consent/assent

Control participants:

  • Male
  • Age range 7-17 years.
  • Ability to consent/assent

Критерии исключения

  • DMD \& BMD patients:
  • Significant visual or hearing impairment
  • Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
  • Current participation in a clinical trial investigating a new drug involved in dystrophin modulation.
  • Inability to consent (for parents/guardians or self-reporting participants aged 16 and 17) or assent. This will exclude the rare individuals with extremely severe learning disability, as the assent in these patients is impossible (or the consent in self-reporting participants aged 16 and 17).

Control participants:

  • Significant visual or hearing impairment
  • Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
  • Any diagnosis of neurological or psychiatric condition

General exclusion criteria for MRI:

  • Claustrophobia
  • Pacemakers and defibrillators
  • Nerve stimulators
  • Intracranial clips
  • Intraorbital or intraocular metallic fragments
  • Cochlear implants
  • Ferromagnetic implants (e.g. thoracic implant for scoliosis)
  • Inability to lie supine during less than 45 minutes
  • Not having a general practitioner
  • Severe learning disability which will require a general anaesthetic

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

Здоровые добровольцы: Да

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

Великобритания · 1 центр
  • UCL GOS Institute of Child Health — London

Идентификаторы

NCT: NCT06581887 · 21/WM/0267 · 302390

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗