Duchenne Muscular Dystrophy Serum

Duchenne Muscular Dystrophy Serum for Genetic Muscle Disease Research

Our Duchenne Muscular Dystrophy (DMD) Serum is sourced from IRB-consented donors clinically diagnosed with Duchenne muscular dystrophy, with each sample processed and frozen within 24 hours of collection. DMD is a monogenic, X-linked recessive disease, not an autoimmune or inflammatory one: out-of-frame mutations in the DMD gene abolish production of dystrophin, the protein that anchors the muscle fibre membrane to the cytoskeleton. Without it, the sarcolemma tears under contractile stress and muscle fibres are progressively lost and replaced by fibrotic and fatty tissue.

Why Serum for Duchenne Muscular Dystrophy

Because the primary lesion is mechanical membrane fragility, muscle-derived contents leak directly into the circulation. That makes serum an unusually direct window onto the disease process in DMD.

• Creatine kinase is dramatically elevated — serum CK is markedly raised from birth in DMD, often before symptoms, and remains the single most established circulating consequence of dystrophin deficiency. It falls as muscle mass is lost in later disease, which is itself informative.
• Transaminases are of muscle, not liver, origin — AST and ALT are commonly elevated in DMD because they are released from damaged myofibres. This is a well-recognised source of misinterpretation and a genuine consideration for any hepatic safety assessment in DMD trials.
• Muscle-enriched circulating microRNAs — the myomiRs, including miR-1, miR-133 and miR-206, are released from damaged muscle and have been extensively studied as candidate DMD biomarkers responsive to muscle turnover.
• Titin and structural protein fragments — degradation products of sarcomeric proteins appear in circulation and are studied as measures of ongoing myofibre breakdown.
• Fibrosis biology — progressive replacement of muscle by connective tissue involves TGF-beta signalling and matrix turnover, and circulating fibrosis-associated proteins are studied as progression markers.
• Pre-existing AAV immunity for gene therapy — gene-transfer approaches for DMD are limited by pre-existing neutralising antibodies against AAV capsids. Serum is the standard matrix for AAV antibody and cellular pre-screening assay development.

Donor Stratification Available

• Genetic confirmation and mutation class where available: large deletion, duplication, or point mutation, and exon-skipping amenability
• Ambulatory status: ambulatory, transitional, or non-ambulatory, with functional assessment scores where recorded
• Age band, from young paediatric through adolescent and adult donors
• Corticosteroid regimen and duration, or corticosteroid-naive
• Cardiac and respiratory involvement: ejection fraction and forced vital capacity where recorded
• Disease-modifying treatment status: exon-skipping antisense oligonucleotide, gene therapy, or untreated
• Matched healthy controls available, age- and sex-matched on request

Product Features

• Collected from clinically confirmed Duchenne muscular dystrophy donors
• Processed and frozen within 24 hours of collection
• Custom aliquot volumes available; volumes reported per lot
• Research Use Only (RUO)
• IRB-approved protocols with documented consent, including guardian consent and assent for paediatric donors

De-identified Donor Data

• Diagnosis confirmation, with genetic testing results where available
• Age, sex assigned at birth, and race/ethnicity
• Donor- or guardian-reported medical history, medications and comorbidities
• Functional status, corticosteroid use and laboratory values where recorded

Applications

• Biomarker discovery and validation for DMD progression and treatment response
• Creatine kinase and muscle enzyme kinetics research
• Circulating microRNA (myomiR) profiling
• Sarcomeric protein fragment and muscle turnover assays
• Fibrosis and matrix turnover marker research
• AAV neutralising antibody assay development for gene therapy eligibility screening
• Serum proteomics and multiplex panel development for rare disease programmes
• Clinical trial assay qualification and reference material for DMD development programmes

Other Duchenne Muscular Dystrophy Specimen Types

• Duchenne Muscular Dystrophy Plasma
• Duchenne Muscular Dystrophy Whole Blood
• Duchenne Muscular Dystrophy PBMC
• Healthy Pediatrics Serum — for age-matched control comparisons

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 serum is available in standard and custom volumes. For pricing, availability or a specific stratification request, email learnmore@sanguinebio.com; please also contact us for international orders or documentation requirements to ensure compatibility with your country’s regulations. To browse availability across all disease states, visit our human serum page.