Facioscapulohumeral Muscular Dystrophy Plasma
Facioscapulohumeral Muscular Dystrophy Plasma from donors with clinically diagnosed FSHD, a monogenic disorder caused by DUX4 de-repression following D4Z4 repeat contraction (FSHD1) or SMCHD1 loss of function (FSHD2). Suitable for muscle-derived protein and creatine kinase measurement, circulating microRNA profiling, proteomics, and pharmacodynamic endpoint development. Matched healthy controls available.
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.
Protocols & Documentation
-
Download
Plasma Isolation
Protocol for plasma separation from anticoagulated whole blood, including processing, storage, and traceability requirements.
-
Informed Consent Form (ICF)
Available upon request — confirms donor consent for research use and downstream commercialization.
Plasma
Frequently Asked Questions
1 Answer
YES – All collections are conducted under IRB-approved protocols and electronic informed consent. Sanguine utilizes Advarra and WCG IRB for oversight.
1 Answer
YES – all our products are research use only (RUO).
1 Answer
You can find our full product catalog here.
1 Answer
Storage depends on sample type but often cryopreserved samples stored in liquid nitrogen can be stored for years.
1 Answer
Extensive customization is available. To discuss your project request a quote or email us at learnmore@sanguinebio.com.
1 Answer
Sanguine offers flexible prospective collection services tailored to fit your research. For more information and to request a quote, please see: our prospective biospecimen collection services page.
1 Answer
Timelines depend on condition, sample type, and I/E criteria but we often start collection within 2 weeks of signed agreement.
1 Answer
YES – we have in-stock inventory. You can also email us at learnmore@sanguinebio.com as we continually get new samples in our inventory.
1 Answer
Each sample from a different individual – Unique donor means each sample comes from a different person, ensuring biological diversity in your study.
1 Answer
YES – Unique donors can be specified and guaranteed based on your requirements.
1 Answer
For information about sample quality, please see: Quality and Compliance
1 Answer
YES – “IRB-approved collection protocols” and IRB approval documentation available upon request. Sanguine utilizes two internationally-recognized IRBs (Advarra and WCG IRB) for review and approval.
Ask a Question
Need a custom Plasma cohort?
Our scientific team can scope prospective collections with donor-specific I/E criteria, typically starting within 2 weeks of agreement.