[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100657412":3},{"organization":4,"outcomesModule":7,"designInfo":14,"detailedDescription":17,"studyPopulation":18,"armGroups":13,"interventions":13,"overallOfficials":13,"centralContacts":13,"locations":19,"responsibleParty":38,"collaborators":13,"id":42,"slug":43,"hasResults":44,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":44,"sex":50,"minAge":13,"maxAge":13,"enrollmentInfo":51,"targetDuration":54,"studyType":55,"phases":13,"briefSummary":56,"conditions":57,"keywords":13,"overallStatus":59,"whyStopped":13,"lastUpdateSubmitDate":60,"lastUpdatePostDateStruct":61,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":52},{"fullName":5,"class":6},"Bundang CHA Hospital","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":13},[9],{"measure":10,"description":11,"timeFrame":12},"Longitudinal change (Baseline vs Year 1\u002F2\u002F3) in molecular, cardiovascular, skeletal, and clinical severity biomarkers in one HGPS patient (LMNA p.G608G)","1. Molecular Biomarkers\n\n   * PBMC mRNA: Progerin (ratio), lamin A\u002FC (ratio), p21 (ratio), ICAM-1 (ratio), VCAM-1 (ratio), eNOS (ratio), TLR4 (ratio), PAI-1 (ratio)\n   * Serum: MCP-1 (pg\u002FmL), IL-1β (pg\u002FmL), TNF-α (pg\u002FmL), IL-6 (pg\u002FmL), IFN-γ (pg\u002FmL), CRP (mg\u002FL), ox-LDL (U\u002FL)\n2. Cardiovascular: LVEF (%), diastolic function (\\[E\u002Fe'\\], ratio), strain (\\[GLS\\], %), PWV (m\u002Fs), carotid echodensity (gray-scale median, units), cIMT (mm), ECG (\\[QTc\\], ms), ABI (ratio).\n3. Skeletal\u002FGrowth: height (cm), weight (kg), head circumference (cm), weight gain (kg\u002Fmonth), ROM (degrees), MMT (points), BBS (points), DEXA BMD (g\u002Fcm²), spine X-ray (degrees).\n4. Clinical\u002FQoL: QoL (points), ADL (points), Progeria Severity Score (points).\n5. Laboratory\u002FSafety: CBC (\\[hemoglobin, g\u002FdL; WBC, ×10³\u002FµL; platelets, ×10³\u002FµL\\]), AST\u002FALT\u002FALP (U\u002FL), bilirubin\u002FBUN\u002FCr (mg\u002FdL), eGFR (mL\u002Fmin\u002F1.73 m²), Na\u002FK\u002FCl (mmol\u002FL), lipids (mg\u002FdL), IGF-1\u002FIGFBP-3 (ng\u002FmL), BP (mmHg), pulse (beats\u002Fmin), RR (breaths\u002Fmin), temperature (°C).","From September 2026 to December 2029",null,{"allocation":13,"interventionModel":13,"interventionModelDescription":13,"primaryPurpose":13,"observationalModel":15,"timePerspective":16,"maskingInfo":13},"COHORT","PROSPECTIVE","HGPS natural history observation cohort\n\nProspective, non-interventional, longitudinal follow-up of 1 genetically confirmed HGPS patient (LMNA c.1824C\\>T, p.G608G) over 4 timepoints (Baseline, Year 1, Year 2, Year 3, ±1 month window) Molecular biomarker profiling: progerin mRNA\u002Fprotein, lamin A\u002FC ratio, p21 (CDKN1A), endothelial dysfunction panel (ICAM-1, VCAM-1, MCP-1, eNOS), inflammatory cytokine panel (IL-1β, TNF-α, CRP, IL-6, IFN-γ), innate immunity\u002Fatherosclerosis panel (TLR4, ox-LDL, PAI-1) via RT-PCR and ELISA on PBMC and serum Cardiovascular assessment: echocardiography (diastolic function, LVEF, global longitudinal strain), carotid-femoral pulse wave velocity, carotid echodensity and intima-media thickness, ECG, ankle-brachial index Skeletal and growth assessment: anthropometry, DEXA (bone mineral density, body composition), range-of-motion measurement, whole spine X-ray Neurocognitive and functional assessment: age-appropriate IQ testing (K-WISC-V\u002FK-WPPSI-IV), neurological exam, Progeria Severity Score, PedsQL, ADL evaluation Research blood sampling: EDTA 3ml × 4 timepoints (total 12ml)","A Hutchinson-Gilford Progeria Syndrome (HGPS) patient genetically confirmed by LMNA gene testing (c.1824C\\>T, p.G608G)",[20],{"facility":21,"status":13,"city":22,"state":23,"zip":24,"country":25,"countryCode":13,"cosmosGeoPoint":26,"geoPoint":31,"contacts":32},"Bundang CHA medical center","Seongnam-si","Gyeonggi-do","13496","South Korea",{"type":27,"coordinates":28},"Point",[29,30],127.13778,37.43861,{"lat":30,"lon":29},[33],{"name":34,"role":35,"phone":36,"phoneExt":13,"email":37},"MinYoung Kim, PhD","CONTACT","82-31-780-6281","kmin@cha.ac.kr",{"type":39,"investigatorFullName":40,"investigatorTitle":41,"investigatorAffiliation":5,"oldNameTitle":13,"oldOrganization":13},"PRINCIPAL_INVESTIGATOR","MinYoung Kim, MD, PhD","Professor, Department of Rehabilitation Medicine, CHA Bundang Medical Center","100657412","a-study-observing-disease-progression-in-a-patient-with-hutchinson-gilford-progeria-syndrome-hgps-100657412",false,"NCT07839351","A Study Observing Disease Progression in a Patient With Hutchinson-Gilford Progeria Syndrome (HGPS)","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","progeria","Inclusion Criteria:\n\n* A Hutchinson-Gilford Progeria Syndrome (HGPS) patient genetically confirmed by LMNA gene testing (c.1824C\\>T, p.G608G)\n\nExclusion Criteria:\n\n* not applicable","ALL",{"count":52,"type":53},1,"ESTIMATED","3 Years","OBSERVATIONAL","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.",[58],"Hutchinson-Gilford Progeria Syndrome","NOT_YET_RECRUITING","2026-09-21",{"date":62,"type":63},"2026-09-24","ACTUAL",{"date":65,"type":53},"2026-09",{"date":67,"type":53},"2032-12",{"name":5,"class":6}]