Duchenne Muscular Dystrophy Plasma

About Duchenne Muscular Dystrophy Plasma

Duchenne Muscular Dystrophy Plasma for Neuromuscular and Gene Therapy Research

Duchenne Muscular Dystrophy Plasma is collected from IRB-consented donors clinically diagnosed with Duchenne muscular dystrophy (DMD) and processed within one day of collection to preserve labile analytes such as muscle-derived proteins, cytokines, circulating nucleic acids, and metabolites. Cryopreserved and available in custom aliquots. Research Use Only (RUO).

Molecular Basis and Why Plasma

• DMD is an X-linked recessive monogenic disease caused by out-of-frame deletions, duplications, or point mutations in the DMD gene, resulting in absent or non-functional dystrophin.
• Dystrophin links the actin cytoskeleton to the dystrophin-associated glycoprotein complex at the sarcolemma; without it, the muscle membrane is mechanically fragile and is damaged by contraction.
• Repeated sarcolemmal injury leads to necrosis, regeneration failure, chronic inflammatory infiltration, and progressive replacement of muscle with fibrotic and adipose tissue. Cardiomyopathy and respiratory muscle weakness dominate later disease.
• Membrane leak releases intracellular muscle proteins into the circulation, which is why plasma creatine kinase and myoglobin are markedly elevated and are long-standing readouts of muscle damage.
• Muscle-enriched circulating microRNAs, sometimes called myomiRs, and cardiac markers such as natriuretic peptides and troponins are also studied in plasma as non-invasive progression measures.
• Because mutation class determines eligibility for exon-skipping and gene-directed approaches, genotype-annotated plasma is valuable for pharmacodynamic biomarker work. Plasma is acellular, so it is used for soluble analyte and circulating nucleic acid readouts rather than cell assays.

Donor Stratification Available

• DMD mutation type where documented: deletion, duplication, nonsense, or exon-skip amenable
• Age band and ambulatory status (ambulatory versus non-ambulatory)
• Corticosteroid therapy status and duration
• Disease-modifying therapy: exon-skipping antisense oligonucleotide, gene therapy, or treatment-naive
• Documented cardiac involvement and cardiac medication use
• Respiratory support status; Becker muscular dystrophy donors available separately on request
• Matched healthy controls available

Product Features

• Research Use Only (RUO)
• Plasma collected from clinically confirmed Duchenne muscular dystrophy donors
• Processed within one day of collection
• Cryopreserved for long-term stability
• IRB-approved protocols and electronic informed consent, with parental or guardian permission for minors
• Custom aliquot volumes available upon request

De-identified Donor Data

• Verified Duchenne muscular dystrophy diagnosis
• Demographic data: age, sex assigned at birth, race/ethnicity
• Donor-reported medications, allergies, and comorbidities
• Genotype, ambulatory status, and cardiac history where available
• Additional DMD-specific metadata available on request

Applications

• Muscle damage biomarker measurement, including creatine kinase and myoglobin
• Circulating microRNA and cell-free nucleic acid profiling
• Plasma proteomics for progression and severity biomarkers
• Cardiac biomarker research in DMD-associated cardiomyopathy
• Metabolomic analysis of muscle energetics and wasting
• Cytokine and fibrosis-related mediator profiling
• Pharmacodynamic endpoints for exon-skipping and gene therapy programs
• Genotype-stratified assay development and validation

Other Duchenne Muscular Dystrophy Specimen Types

• Duchenne Muscular Dystrophy Serum
• Duchenne Muscular Dystrophy Whole Blood
• Duchenne 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

Duchenne Muscular Dystrophy Plasma is available in standard and custom volumes. For pricing, availability, international orders, or documentation requirements, please email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. To browse all matrices and disease states, visit our human plasma page.