The natural history study of Becker muscular dystrophy

The natural history study of Becker muscular dystrophy - Natural history study of Becker muscular dystrophy

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON46870

Enrollment

Registered

2014-10-27

Start date

2017-11-26

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Becker muscular dystrophy / BMD

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: 1. Diagnosis of BMD defined by: -Male gender -Progressive muscular weakness AND -Elevated serum CPK-levels AND -An in-frame mutation in the dystrophin gene AND/OR reduced amount of dystrophin protein in a muscle biopsy 2. BMD patients 18 years and older

Exclusion criteria

Exclusion criteria: Patients will be excluded from muscle biopsies if they use oral anticoagulants.

Design outcomes

Primary

Measure	Time frame
1.To describe variability in clinical characteristics and natural history of BMD. -To describe the variability in and pattern of skeletal muscle involvement -To describe variability in functional impairment -To describe the variability in cardiac involvement -To describe whether pulmonary function is impaired -To describe cognitive functioning in BMD	—

Secondary

Measure	Time frame
2. To establish genetic, biochemical and radiographic markers for disease variability and severity. -To determine if mutation type and location are correlated to disease severity. -To assess the quantity and quality of dystrophin protein and proteins of the DAG complex (dystroglycans, sarcoglycans, dystrobrevin, syntropin and nNOS) correlated to disease severity. -To compare dystrophin quantity between muscle biopsies of the anterior tibial and quadriceps muscle. -To compare dystrophin quantity and quality in new and old muscle biopsies (only in patients who participated in our earlier study Becker Muscular Dystrophy: Analysis of diversity in disease severity). - To correlate proteins of the DAG complex with disease severity. - To determine the inflammation markers in serum and on muscle MRI. - To determine the role of exploratory biomarkers such as proteins (e.g. MMP-9 and fibronectin) and microRNAs (e.g. miR-1, miR-133)	—

Measure

Time frame

2. To establish genetic, biochemical and radiographic markers for disease variability and severity. -To determine if mutation type and location are correlated to disease severity. -To assess the quantity and quality of dystrophin protein and proteins of the DAG complex (dystroglycans, sarcoglycans, dystrobrevin, syntropin and nNOS) correlated to disease severity. -To compare dystrophin quantity between muscle biopsies of the anterior tibial and quadriceps muscle. -To compare dystrophin quantity and quality in new and old muscle biopsies (only in patients who participated in our earlier study *Becker Muscular Dystrophy: Analysis of diversity in disease severity*). - To correlate proteins of the DAG complex with disease severity. - To determine the inflammation markers in serum and on muscle MRI. - To determine the role of exploratory biomarkers such as proteins (e.g. MMP-9 and fibronectin) and microRNAs (e.g. miR-1, miR-133)

—

Countries

Netherlands

Outcome results