Umbilical Cord Blood Transfusion in Progeria Syndrome

Study Overview
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Brief Summary
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This is a pilot study on safety and efficacy of umbilical cord blood therapy for patients with Hutchinson Gilford Progeria syndrome (HGPS). This is an 1 year trial with 3 IV infusions (4 months apart from each infusion) of umbilical cord blood units with oral Sirolimus to see the safety and efficacy.

Detailed Description
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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.

Official Title
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Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome

Conditions
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Hutchinson-Gilford Progeria Syndrome

Intervention / Treatment
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* Drug: Umbilical Cord Blood Unit


Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: UCB injection group<br>This pilot study includes only 2 subjects who are enrolled by invitation. Both subjects are included in this single arm. | Drug: Umbilical Cord Blood Unit<br>* 3 infusions of umbilical cord blood (UCB) unit (TNC > 2.0ⅹ107cells/kg) each 4 months apart and take oral Sirolimus (1 mg/m2/day) for 7 days (from 3 days before UCB infusion until 3 days after UCB infusion)<br>* Other names: Oral Sirolimus;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change from baseline Carotid-femoral pulse wave velocity at 48 weeks | measured by carotid doppler ultrasonography | 48 weeks after UCB infusion | 
| Change from baseline serum HDL cholesterol at 48 weeks | taken on routine lab | 48 weeks after UCB infusion | 
| Change from baseline weight at 48 weeks | measured by bioimpedance analysis | 48 weeks after UCB infusion | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Ankle-brachial index | measured by automatic blood pressure gauge | baseline, 48 weeks after UCB infusion | 
| Body fat proportion | taken by bioimpedance analysis | baseline, 48 weeks after UCB infusion | 
| Range of motion | measured manually | baseline, 48 weeks after UCB infusion | 
| height | measured by bioimpedance analysis | baseline, 48 weeks after UCB infusion |