NCT04668716

Brief Summary

The objective of this study is to understand the relationship between DMD and BMD brain comorbidities, and the location of the gene mutation which causes the disease.

Trial Health

93
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
339

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Oct 2021

Typical duration for all trials

Geographic Reach
6 countries

7 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

December 9, 2020

Completed
7 days until next milestone

First Posted

Study publicly available on registry

December 16, 2020

Completed
10 months until next milestone

Study Start

First participant enrolled

October 11, 2021

Completed
2.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2024

Completed
Last Updated

July 22, 2024

Status Verified

July 1, 2024

Enrollment Period

2.7 years

First QC Date

December 9, 2020

Last Update Submit

July 19, 2024

Conditions

Duchenne Muscular DystrophyBecker Muscular Dystrophy

Keywords

Duchenne Muscular DystrophyDeep phenotypingGene therapiesLearning difficulties and autism

Outcome Measures

Primary Outcomes (1)

  • CNS Comorbidity Phenotyping

    Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients

    170 minutes

Eligibility Criteria

Age5 Years - 50 Years
Sexmale(Gender-based eligibility)
Gender Eligibility DetailsDMD and BMD are sex-linked conditions, which occur predominantly in males.
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

The investigators will recruit both patients who have completed a related online study (ClinicalTrials.gov Identifier NCT04583917) and patients directly recruited from participating clinics or research settings. These patients will undergo a structured cognitive and neurobehavioural assessment. A subgroup of patients assessed in the research setting will be invited to also attend a second visit involving a magnetic resonance imaging (MRI) scan of the brain. The investigators aim to recruit 80 participants in the UK and the number of participants in the remaining countries will be 190 patients.

You may qualify if:

  • 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

You may not qualify if:

  • 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)
  • 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
  • +2 more criteria

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (7)

Copenhagen Neuromuscular Center

Copenhagen, Denmark

Location

Imagine Institut Des Maladies Genetiques Necker Enfants Malades Fondation

Paris, France

Location

Universita Cattolica Del Sacro Cuore

Rome, Italy

Location

STICHTING KEMPENHAEGHE/Leiden University Medical Center

Heeze, Netherlands

Location

Universidad Complutense de Madrid

Madrid, Spain

Location

UCL/GOSH

London, United Kingdom

Location

University of Newcastle Upon Tyne

Newcastle, United Kingdom

Location

Related Links

MeSH Terms

Conditions

Muscular Dystrophy, DuchenneAutistic Disorder

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesAutism Spectrum DisorderChild Development Disorders, PervasiveNeurodevelopmental DisordersMental Disorders

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

December 9, 2020

First Posted

December 16, 2020

Study Start

October 11, 2021

Primary Completion

June 30, 2024

Study Completion

June 30, 2024

Last Updated

July 22, 2024

Record last verified: 2024-07

Locations

DK(1)FR(1)IT(1)NL(1)ES(1)GB(2)