Inflammation in facioscapulohumeral muscular dystrophy: from patient to molecules

Inflammation in facioscapulohumeral muscular dystrophy: from patient to molecules - Inflammation in FSHD

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON48999

Enrollment

115

Registered

2018-08-01

Start date

2019-02-13

Completion date

Unknown

Last updated

2024-04-15

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

Conditions

muscular dystrophy

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - > 18 year old - Genetically confirmed FSHD - unrelated - with symptomatic lower limb weakness

Exclusion criteria

Exclusion criteria: - Age

Design outcomes

Primary

Measure	Time frame
Main outcomes will be: evaluation of inflammation in muscles using MRI; differential immunohistological characterization of muscle biopsies between patients and controls; difference in genomic expression profiling and cytokine profiling on blood cells and muscle tissue between patients and controls.	—

Secondary

Measure	Time frame
Secondary objectives are: 1) Assess FSHD Severity Score 2) Evaluates muscle weakness degree by MRC grading. 3) Compare the diagnostic quality of MRI and 3D ultrasound images in order to develop future 3D US guided biopsies. 4) Compare the 3D ultrasound images of patients with already acquired 3D US of healthy volunteers in order to understand possible factor contributing to muscle weakness in FSHD.	—

Measure

Time frame

Secondary objectives are: 1) Assess FSHD Severity Score 2) Evaluates muscle weakness degree by MRC grading. 3) Compare the diagnostic quality of MRI and 3D ultrasound images in order to develop future 3D US guided biopsies. 4) Compare the 3D ultrasound images of patients with already acquired 3D US of healthy volunteers in order to understand possible factor contributing to muscle weakness in FSHD.

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Countries

Netherlands

Outcome results