NCT04583917

Brief Summary

The objective of this study is to collect data from a large cohort of individuals with DMD and BMD focusing on the neurobehavioural aspects of these conditions and their correlation to the location of the DMD gene mutation.

Trial Health

93
On Track

Trial Health Score

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

Enrollment
377

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Mar 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

October 5, 2020

Completed
7 days until next milestone

First Posted

Study publicly available on registry

October 12, 2020

Completed
6 months until next milestone

Study Start

First participant enrolled

March 30, 2021

Completed
3.3 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

3.3 years

First QC Date

October 5, 2020

Last Update Submit

July 19, 2024

Conditions

Duchenne Muscular DystrophyBecker Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

  • CNS Comorbidity Pheotyping

    Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients

    90 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 VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Patients will be those followed in the two neuromuscular centres located in London and Newcastle; via the UK Clinical North Star network, the BIND website and the UK advocacy groups MDUK, Action Duchenne and Duchenne UK. A similar recruitment process will take place in the other EU countries, according to local regulations and after having obtained the relevant local ethical approval.

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).

You may not qualify if:

  • 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

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

Heeze, Netherlands

Location

Universidad Complutense de Madrid

Madrid, Spain

Location

GOSH/UCL

London, United Kingdom

Location

University of Newcastle Upon Tyne

Newcastle, United Kingdom

Location

Related Links

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Francesco Muntoni

    University College, London

    PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

First Submitted

October 5, 2020

First Posted

October 12, 2020

Study Start

March 30, 2021

Primary Completion

June 30, 2024

Study Completion

June 30, 2024

Last Updated

July 22, 2024

Record last verified: 2024-07

Locations

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