Umbilical Cord Blood Transfusion in Progeria Syndrome

Phase 2CompletedNCT03871972

Bundang CHA Hospital2 enrolled

Overview

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.

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Hutchinson-Gilford Progeria Syndrome

Interventions

Umbilical Cord Blood UnitDRUG

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)

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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 1. whose ALT/AST \> 2 fold of normal limit 2. whose serum creatinine \> 1.5 fold of normal limit 3. whose total bilirubin \> 2 fold of normal limit 4. whose total WBC count \< 3000/mm3 5. 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

Locations (1)

Bundang CHA Medical Center

Seongnam-si, Gyeonggi-do, South Korea

Outcomes

Primary Outcomes

Change from baseline Carotid-femoral pulse wave velocity at 48 weeks

measured by carotid doppler ultrasonography

Time frame: 48 weeks after UCB infusion

Change from baseline serum HDL cholesterol at 48 weeks

taken on routine lab

Time frame: 48 weeks after UCB infusion

Change from baseline weight at 48 weeks

measured by bioimpedance analysis

Time frame: 48 weeks after UCB infusion

Secondary Outcomes

Ankle-brachial index

measured by automatic blood pressure gauge

Time frame: baseline, 48 weeks after UCB infusion

Body fat proportion

taken by bioimpedance analysis

Time frame: baseline, 48 weeks after UCB infusion

Range of motion

measured manually

Time frame: baseline, 48 weeks after UCB infusion

height

measured by bioimpedance analysis

Time frame: baseline, 48 weeks after UCB infusion

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.