This study is a prospective, non-interventional, single-patient observational study following one patient with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare disease that causes rapid, premature aging, over a 3-year period without any therapeutic intervention. The main purpose of this study is to track disease-related biomarkers over time - through physical measurements, cardiac and vascular ultrasound, bone age and bone density scans, cognitive testing, and quality-of-life assessments, along with blood tests (a total of 4 research blood draws, 3ml each) - in order to establish baseline natural history data that will support the future development and evaluation of an RNA-targeting gene therapy (based on AAV-Cas13 technology) for this condition.
A Hutchinson-Gilford Progeria Syndrome (HGPS) patient genetically confirmed by LMNA gene testing (c.1824C>T, p.G608G)
not applicable
A Hutchinson-Gilford Progeria Syndrome (HGPS) patient genetically confirmed by LMNA gene testing (c.1824C\>T, p.G608G)
Cohort
Prospective
Not listed
Longitudinal change (Baseline vs Year 1/2/3) in molecular, cardiovascular, skeletal, and clinical severity biomarkers in one HGPS patient (LMNA p.G608G)
1. Molecular Biomarkers * PBMC mRNA: Progerin (ratio), lamin A/C (ratio), p21 (ratio), ICAM-1 (ratio), VCAM-1 (ratio), eNOS (ratio), TLR4 (ratio), PAI-1 (ratio) * Serum: MCP-1 (pg/mL), IL-1β (pg/mL), TNF-α (pg/mL), IL-6 (pg/mL), IFN-γ (pg/mL), CRP (mg/L), ox-LDL (U/L) 2. Cardiovascular: LVEF (%), diastolic function (\[E/e'\], ratio), strain (\[GLS\], %), PWV (m/s), carotid echodensity (gray-scale median, units), cIMT (mm), ECG (\[QTc\], ms), ABI (ratio). 3. Skeletal/Growth: height (cm), weight (kg), head circumference (cm), weight gain (kg/month), ROM (degrees), MMT (points), BBS (points), DEXA BMD (g/cm²), spine X-ray (degrees). 4. Clinical/QoL: QoL (points), ADL (points), Progeria Severity Score (points). 5. Laboratory/Safety: CBC (\[hemoglobin, g/dL; WBC, ×10³/µL; platelets, ×10³/µL\]), AST/ALT/ALP (U/L), bilirubin/BUN/Cr (mg/dL), eGFR (mL/min/1.73 m²), Na/K/Cl (mmol/L), lipids (mg/dL), IGF-1/IGFBP-3 (ng/mL), BP (mmHg), pulse (beats/min), RR (breaths/min), temperature (°C).
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