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A nationwide natural history study in Becker muscular dystrophy: Modeling a slowly progressive neuromuscular disease to prepare for clinical trials.

Recruiting
Conditions
Becker muscular dystrofie / BMD
10029317
Registration Number
NL-OMON52088
Lead Sponsor
eids Universitair Medisch Centrum
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Recruiting
Sex
Not specified
Target Recruitment
75
Inclusion Criteria

BMD patient cohort:
• Male
• Confirmation of diagnosis of BMD by DNA analysis
• Age >=5 years

In order to be eligible to partake in the muscle biopsy part of this study, the
following additional inclusion criteria apply:
• Age >= 18 years

BMD trial participants cohort:
• Male
• Confirmation of diagnosis of BMD by DNA analysis
• Age >=5 years
• Inclusion in the phase II study of EDG-5506 in BMD (P22-064)

Healthy controls:
• Male
• Age >=5 years
In order to be eligible to partake in the muscle biopsy part of this study, the
following additional inclusion criteria apply:
• Age >= 18 years

Exclusion Criteria

Patients will not undergo MRI or muscle biopsy if they have contraindication
for the MRI (such as a metal implant) or muscle biopsy (such as use of
anticoagulation) respectively. If this is the case, it is still possible to
partake in the other parts of this study.

Study & Design

Study Type
Observational invasive
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
<p>The main study endpoint is a model to predict the disease course of individual<br /><br>BMD patients based on the following parameters: clinical parameters (e.g. loss<br /><br>of ambulation), functional parameters (e.g. North Star Ambulatory assessment,<br /><br>strength measures), pulmonary parameters (e.g. forced vital capacity), cardiac<br /><br>parameters (e.g. left ventricular ejection fraction), muscle MRI<br /><br>characteristics (e.g. fat fraction) and biomarkers in serum (e.g.<br /><br>creatine/creatinine ratio).</p><br>
Secondary Outcome Measures
NameTimeMethod
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