Creating Stem Cells From a Progeria Patient's Blood to Test Candidate Treatments in the Lab

N/ANot Yet RecruitingNCT07803432

Bundang CHA Hospital1 enrolled

Overview

This study aims to establish induced pluripotent stem cell (iPSC) lines from the blood of one pediatric patient with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare disease that causes rapid, premature aging, in order to build a laboratory model of the disease. The main purpose of this study is to collect a blood sample (a total of 9cc, drawn once) from the patient, reprogram the patient's blood cells into stem cells, and then differentiate these stem cells into disease-relevant cell types (such as fibroblasts, vascular smooth muscle cells, and neurons) to study how HGPS affects cells at a molecular level. These patient-derived cells will then be used entirely in the laboratory (in-vitro) to test the safety and effectiveness of candidate treatments, including an RNA-targeting gene therapy, before any such therapy would be considered for use in patients.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Hutchinson-Gilford Progeria Syndrome

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria Clinically diagnosed with Hutchinson-Gilford Progeria Syndrome (HGPS) Currently followed as an outpatient at the study institution 19 years of age or younger at enrollment Able to provide written informed consent (or legal guardian able to provide consent on the patient's behalf) Willing and able to undergo a single peripheral blood draw for PBMC collection Exclusion Criteria Clinical condition precluding safe blood collection (e.g., severe anemia, active infection at the collection site, or a bleeding disorder) Patient or legal guardian unable or unwilling to provide informed consent Collected PBMCs yield insufficient quantity or viability for successful iPSC reprogramming (results in post-hoc exclusion from cell-based analysis only, not from study consent)

Outcomes

Primary Outcomes

Established an induced pluripotent stem cell (iPSC) cell line.

Established an induced pluripotent stem cell (iPSC) cell line using peripheral blood mononuclear cells (PBMCs) obtained from patients with Hutchinson-Gilford Progeria Syndrome.

Time frame: Through study completion, an estimated 12 months from PBMC collection