Understanding emotional and behavioral issues in boys with muscular dystrophies

Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies

This study is trying to see how Duchenne and Becker Muscular Dystrophies affect the mental health of boys aged 7-17 by looking at their behavior and emotions through questionnaires and possibly brain scans.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 7 Years to 17 Years
• Sex: Male
• Sponsor: University College, London (Academic / other)
• Locations: 1 site (London)
• Trial ID: NCT06581887 on ClinicalTrials.gov

What this trial studies

This study aims to evaluate how Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) affect mental health through a classical conditioning task. Participants, aged 7-17, will complete questionnaires on behavior, cognitive function, and social interactions, and may undergo an optional MRI brain scan. The goal is to correlate specific genetic mutations with behavioral and emotional characteristics, ultimately developing a comprehensive test battery for future interventions. This observational study will provide insights into the neurophysiological responses associated with these conditions.

Who should consider this trial

Good fit: Ideal candidates are males aged 7-17 with a genetically confirmed diagnosis of DMD or BMD.

Not a fit: Patients with significant visual or hearing impairments or those currently participating in other clinical trials may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved assessment tools for mental health in patients with DMD and BMD.

How similar studies have performed: While similar studies have explored behavioral aspects in muscular dystrophies, this specific approach using classical conditioning is relatively novel.

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

Where this trial is running

London

• UCL GOS Institute of Child Health — London, United Kingdom (Recruiting)

Study contacts

• Principal investigator: Francesco Muntoni, Professor — University College, London
• Study coordinator: Anna Kolesnik, Dr

Conditions DMD; BMD; Antisense oligonucleotide