Brain Involvement in Dystrophinopathies Part 2

Plain-language summary

This observational study examined brain involvement in people with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) using magnetic resonance imaging (MRI). It included boys aged 5-17 with genetically confirmed DMD, people aged 5-50 with BMD, and healthy male participants as controls. This study without an assigned phase has been carried out and is completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

Great Ormond Street Hospital for Children NHS Foundation Trust

Start date

10/11/2021

Estimated completion

6/30/2024

Countries

Denmark, France, Italy, Netherlands, Spain, United Kingdom

Related genes

Locations

• Copenhagen, Denmark
• Paris, France
• Rome, Italy
• Heeze, Netherlands
• Madrid, Spain
• London, United Kingdom
• Newcastle, United Kingdom

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

For DMD patients:

* Male
* age 5-17 years
* genetically-proven diagnosis of DMD
* 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-); or all isoforms (assigned to DMD group 3)

For BMD patients:

* age 5-50 years
* genetically-proven diagnosis of BMD
* genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2), or of all the isoforms (assigned to BMD group 3).

For MRI controls:

* Male
* age 5-50 years

Exclusion Criteria:

For DMD and BMD patients:

* Lack of a molecular diagnosis of DMD or BMD
* Mutation falls outside the regions of interest
* A severe co-morbidity or planned surgical intervention within 6 months from the study which could interfere with the well-being of the participant

For MRI controls:

* any muscle disease
* a brain disorder (such as severe brain concussion in past history, congenital brain anomalies, epilepsy)

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