Facioscapulohumeral Muscular Dystrophy Plasma

About Facioscapulohumeral Muscular Dystrophy Plasma

Facioscapulohumeral Muscular Dystrophy Plasma for Genetic Neuromuscular Disease Research

Facioscapulohumeral Muscular Dystrophy Plasma is collected from IRB-consented donors clinically diagnosed with facioscapulohumeral muscular dystrophy (FSHD) and processed within one day of collection to preserve labile proteins, metabolites, and circulating nucleic acids. FSHD is a monogenic disorder of epigenetic gene regulation, not an autoimmune or inflammatory disease, and plasma provides the circulating biochemical readout of the resulting skeletal muscle damage.

FSHD Genetics and Why Plasma

• FSHD results from de-repression of DUX4, a transcription factor normally silenced in somatic tissue. Aberrant DUX4 expression in skeletal muscle activates a toxic transcriptional programme that leads to myofibre death.
• FSHD type 1 is caused by contraction of the D4Z4 macrosatellite repeat array at 4q35, which relaxes repressive chromatin at the locus. Pathogenicity additionally requires a permissive 4qA haplotype supplying a polyadenylation signal that stabilises the DUX4 transcript.
• FSHD type 2 produces the same downstream DUX4 de-repression through loss-of-function variants in chromatin modifiers, most commonly SMCHD1, causing D4Z4 hypomethylation without repeat contraction.
• The clinical pattern – progressive, often asymmetric weakness of facial, scapular stabiliser, and humeral muscles, later extending to the trunk and lower limbs – follows from this muscle-restricted mechanism.
• Plasma carries muscle-derived proteins released during myofibre injury, including creatine kinase, along with circulating muscle-enriched microRNAs and inflammatory and metabolic mediators secondary to muscle degeneration.
• Plasma is acellular. It supports immunoassay, proteomic, metabolomic, and circulating nucleic acid work; genotyping and cell-based studies require the paired whole blood or PBMC products.

Donor Stratification Available

• FSHD type 1 (D4Z4 repeat contraction) versus FSHD type 2 (SMCHD1-associated)
• D4Z4 repeat size and 4q haplotype where genotyping is documented
• Clinical severity and distribution of weakness, including documented severity scores where available
• Age at symptom onset, including infantile-onset presentations
• Ambulatory status and use of assistive devices or ventilatory support
• Sex and family history, including sporadic versus inherited cases
• Matched healthy controls available

Product Features

• Research Use Only (RUO)
• Plasma collected from clinically confirmed facioscapulohumeral muscular dystrophy donors
• Processed within one day of collection
• Choice of anticoagulant on request
• IRB-approved protocols and informed consent
• Custom aliquot volumes available upon request

De-identified Donor Data

• Verified facioscapulohumeral muscular dystrophy diagnosis
• Demographic data: age, sex assigned at birth, race/ethnicity
• Donor-reported medications, allergies, and comorbidities
• Genetic confirmation and FSHD subtype where documented
• Additional FSHD-specific metadata available on request

Applications

• Circulating biomarker discovery and validation for FSHD disease activity and progression
• Muscle-derived protein measurement, including creatine kinase and other injury markers
• Circulating microRNA profiling, including muscle-enriched myomiR species
• Untargeted and targeted plasma proteomics for DUX4-downstream signature discovery
• Metabolomic profiling of muscle energy and turnover pathways
• Pharmacodynamic endpoint development for DUX4-targeted and myostatin-pathway therapeutics
• Cell-free DNA and epigenetic marker exploration
• Assay development, qualification, and reference-range establishment for rare disease trials

Other Facioscapulohumeral Muscular Dystrophy Specimen Types

• Facioscapulohumeral Muscular Dystrophy Serum
• Facioscapulohumeral Muscular Dystrophy Whole Blood
• Facioscapulohumeral Muscular Dystrophy PBMC

Compliance and Quality Assurance

• IRB-approved and HIPAA-compliant protocols
• Electronic informed consent with 21 CFR Part 11-compliant e-signatures
• Documentation support available for regulatory review

Ordering & Customization

Facioscapulohumeral muscular dystrophy plasma is available in standard and custom volumes. For pricing, international orders, or documentation requirements, please email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. To compare donor availability across conditions, visit our human plasma page.