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Recruiting NCT06581887

Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies

— Observational DMD BMD

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Classical conditioning task.
Who it may be relevant to
Registry conditions: DMD, BMD. Basic parameters: 7 years — 17 years · Male.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United Kingdom
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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,

Detailed description

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.

Interventions

  • Behavioral 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.

Primary outcome measures

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

Eligibility criteria

Inclusion criteria

  • 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

Exclusion criteria

  • 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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

United Kingdom · 1 center
  • UCL GOS Institute of Child Health — London

Identifiers

NCT: NCT06581887 · 21/WM/0267 · 302390

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗