Clinical trial NCT06581887: Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies
Official title: Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: DMD
BMD
Keywords: Antisense oligonucleotide
Lead sponsor: University College, London
Sponsor class: OTHER
Collaborators: name: Sarepta Therapeutics, Inc.
First posted: 2024-09-03
Enrollment: 100
Sex: MALE
Minimum age (years): 7
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 40 DMD, 30 BMD patients and 30 age-matched controls.

Brief summary: 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.

Eligibility criteria: Inclusion Criteria:

* DMD patients:

  1. Male
  2. Age range 7-17 years
  3. A genetically proven diagnosis of DMD.
  4. 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-).
  5. Ability to consent/assent

BMD patients:

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

Control participants:

1. Male
2. Age range 7-17 years.
3. Ability to consent/assent

Exclusion Criteria:

* DMD \& BMD patients:

  1. Significant visual or hearing impairment
  2. Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
  3. Current participation in a clinical trial investigating a new drug involved in dystrophin modulation.
  4. 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:

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

General exclusion criteria for MRI:

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

Primary outcomes:
measure: Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.
timeFrame: through study completion, an average of 2 years
Secondary outcomes:
measure: To observe any difference between and within BMD, DMD and control groups in regard to learning, habituation and extinction
timeFrame: through study completion, an average of 2 years
Other outcomes:
Locations:
city: London
country: United Kingdom
facility: UCL GOS Institute of Child Health
Study officials:
affiliation: University College, London
name: Francesco Muntoni, Professor
role: PRINCIPAL_INVESTIGATOR
References: