Epidemiology, natural course and registration of dystrophinopathies in the Netherlands

Recruiting

• Conditions: Duchenne/Becker; muscular dystrophy; 10029317

• Registration Number: NL-OMON32292
• Lead Sponsor: eids Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 800

Inclusion Criteria

Progressive muscle weakness (from childhood)
Confirmation of dystrophinopathy diagnosis by a mutation in the dystrophin gene or the absence of dystrophin in a muscular biopt

Exclusion Criteria

no informed consent

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- registration in national and international database<br /><br>- year of birth<br /><br>- age when able to walk independantly for the first time<br /><br>- age at diagnosis Duchenne/Becker<br /><br>- mutation in dystrophin gene<br /><br>- level of education<br /><br>- age at becoming wheelchair dependant<br /><br>- scoliosis and possible surgery<br /><br>- cardiomyopathy<br /><br>- age at which time home ventilation was initiated, if applicable<br /><br>- age at death<br /><br>- use of corticosteroids</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>none</p><br>