Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 入组人数
- 2
- 试验地点
- 1
- 主要终点
- Change from baseline Carotid-femoral pulse wave velocity at 48 weeks
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •those who were clinically and genetically diagnosed as Hutchinson-Gilford progeria syndrome
排除标准
- •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
研究组 & 干预措施
UCB injection group
This pilot study includes only 2 subjects who are enrolled by invitation. Both subjects are included in this single arm.
干预措施: Umbilical Cord Blood Unit (Drug)
结局指标
主要结局
Change from baseline Carotid-femoral pulse wave velocity at 48 weeks
时间窗: 48 weeks after UCB infusion
measured by carotid doppler ultrasonography
Change from baseline serum HDL cholesterol at 48 weeks
时间窗: 48 weeks after UCB infusion
taken on routine lab
Change from baseline weight at 48 weeks
时间窗: 48 weeks after UCB infusion
measured by bioimpedance analysis
次要结局
- Range of motion(baseline, 48 weeks after UCB infusion)
- height(baseline, 48 weeks after UCB infusion)
- Ankle-brachial index(baseline, 48 weeks after UCB infusion)
- Body fat proportion(baseline, 48 weeks after UCB infusion)
研究者
MinYoung Kim, MD, PhD
Head of Rehabilitation Medicine Department, Professor, Principal Investigator
Bundang CHA Hospital