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A Study Observing Disease Progression in a Patient With Hutchinson-Gilford Progeria Syndrome (HGPS) (progeria)

21. september 2026 opdateret af: MinYoung Kim, MD, PhD, Bundang CHA Hospital

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

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.

Studieoversigt

Status

Ikke rekrutterer endnu

Betingelser

Hutchinson-Gilford Progeria Syndrom

Detaljeret beskrivelse

HGPS natural history observation cohort

Prospective, 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/protein, lamin A/C 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/atherosclerosis 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/K-WPPSI-IV), neurological exam, Progeria Severity Score, PedsQL, ADL evaluation Research blood sampling: EDTA 3ml × 4 timepoints (total 12ml)

Undersøgelsestype

Observationel

Tilmelding (Anslået)

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiesteder

Sydkorea
- Gyeonggi-do
  - Seongnam-si, Gyeonggi-do, Sydkorea, 13496
    - Bundang CHA medical center
    - Kontakt:
      
      MinYoung Kim, PhD
      
      Telefonnummer: 82-31-780-6281
      
      E-mail: kmin@cha.ac.kr

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

Barn
Voksen
Ældre voksen

Tager imod sunde frivillige

N/A

Køn, der er berettiget til at studere

Alle

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

A Hutchinson-Gilford Progeria Syndrome (HGPS) patient genetically confirmed by LMNA gene testing (c.1824C>T, p.G608G)

Beskrivelse

Inclusion Criteria:

A Hutchinson-Gilford Progeria Syndrome (HGPS) patient genetically confirmed by LMNA gene testing (c.1824C>T, p.G608G)

Exclusion Criteria:

not applicable

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Observationsmodeller: COHORT
Tidsperspektiver: PROSPECTIVE

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål	Foranstaltningsbeskrivelse	Tidsramme
Longitudinal change (Baseline vs Year 1/2/3) in molecular, cardiovascular, skeletal, and clinical severity biomarkers in one HGPS patient (LMNA p.G608G) Tidsramme: From September 2026 to December 2029	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) 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). 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). Clinical/QoL: QoL (points), ADL (points), Progeria Severity Score (points). 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

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

Bundang CHA Hospital

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Anslået)

1. september 2026

Primær færdiggørelse (Anslået)

1. december 2029

Studieafslutning (Anslået)

1. december 2032

Datoer for studieregistrering

Først indsendt

30. august 2026

Først indsendt, der opfyldte QC-kriterier

21. september 2026

Først opslået (Faktiske)

24. september 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)