FSHD Molecular Characterization

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

1 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-03-05

Study Completion Date

2025-09-09

Brief Summary

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To characterize the clinical and molecular phenotype of FSHD.

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Detailed Description

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The purpose of this study is to validate alterations in therapeutically relevant biomarkers in muscle tissue from FSHD patients. These biomarkers are responsive to the upregulation of the DUX4 gene and protein, which is the fundamental molecular defect in FSHD. In anticipation of a future clinical trial, the Investigators intend to assess the correlation between the expression of these relevant biomarkers and clinical functional measures. The Investigators will also explore the utility of muscle MRI in identifying regions of muscle suitable for sampling for relevant biomarkers, as MRI-related signal changes have been proposed as an anatomic marker of early FSHD pathology.

Conditions

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Facio-Scapulo-Humeral Dystrophy

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* 13 years or older
* Genetically proven FSHD1 or FSHD2 as determined by the investigators

Exclusion Criteria

* Inability to complete an MRI scan (Adults only).
* Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.

Minimum Eligible Age

13 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No