progeria
A Prospective Longitudinal Observational Study of a Patient With Hutchinson-Gilford Progeria Syndrome: Establishing Natural History Data for the Development of AAV-Cas13-Based RNA-Targeting Gene Therapy
Sponsor study identifier
Secondary identifiers
OTHER_GRANT · Korea Health Industry Development Institute
observational
1
1 country
1
Study Start
September 2026
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Primary Completion
December 2029
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
August 30, 2026
Actual (reported)September 2026
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
September 24, 2026
Actual (reported)December 2029
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
December 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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).
From September 2026 to December 2029
A Hutchinson-Gilford Progeria Syndrome (HGPS) patient genetically confirmed by LMNA gene testing (c.1824C\>T, p.G608G)
Bundang CHA medical center
Seongnam-si, Gyeonggi-do, 13496, South Korea
First Submitted
August 30, 2026
First Posted
September 24, 2026
Study Start
September 2026
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Primary Completion
Contact the study team to confirm eligibility.
December 2029
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
September 24, 2026
Record last verified: 2026-09
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.
Source retrieved: