Umbilical Cord Blood Transfusion in Progeria Syndrome

This is a pilot study on safety and efficacy of umbilical cord blood therapy for patients with Hutchinson Gilford Progeria syndrome (HGPS). HGPS is a rare genetic disease where affected LMNA gene coding lamin A protein leads to premature aging and early death.

Teenagers with HGPS are in high risk of atherosclerosis and ischemic stroke, and these are major reason of mortality in HGPS.Currently, there are no definite cure for this rare genetic disease. Among the potential drugs under investigation, Lornafarnib (farnesyltransferase inhibitor) lowered the carotid-femoral pulse wave velocity (cfPWV) and also lowered mortality.

Stem cell therapy has proven its efficacy in progeria mouse model. We are trying to study safety and efficacy of umbilical cord blood therapy in human HGPS patients.

This is a pilot study including 2 patients with HGPS.

Inclusion criteria

• those who were clinically and genetically diagnosed as Hutchinson-Gilford progeria syndrome

Exclusion criteria

• those who show definite hemorrhage or ischemia on brain MRI
• those who are affected with systemic infection during study enrolling period
• those who are not able to able to make consents to the study; those who are not accompanying any guardians
• those who were enrolled in other clinical trials within last 30 days
• those who are not appropriate according to laboratory criteria

• whose ALT/AST > 2 fold of normal limit
• whose serum creatinine > 1.5 fold of normal limit
• whose total bilirubin > 2 fold of normal limit
• whose total WBC count < 3000/mm3
• whose platelet count < normal lower limit
• those who are diagnosed with other malignancies
• those who are affected by other serious medical (cardiopulmonary, gastrointestinal, endocrinologic, etc.) conditions