Umbilical Cord Blood Transfusion in Progeria Syndrome

Phase 1

Completed

• Conditions: Hutchinson-Gilford Progeria Syndrome
• Interventions: Drug: Umbilical Cord Blood Unit

• Registration Number: NCT03871972
• Lead Sponsor: Bundang CHA Hospital

Brief Summary

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

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 Timeline

• Study Start: 2019-03-05
• Study First Submitted: 2019-03-07
• Study First Submitted QC: 2019-03-11
• Study First Posted: 2019-03-12
• Primary Completion: 2020-06-01
• Study Completion: 2020-06-01
• Status Verified: 2020-11
• Last Update Submitted: 2020-11-02
• Last Update Posted: 2020-11-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
UCB injection group	Umbilical Cord Blood Unit	This pilot study includes only 2 subjects who are enrolled by invitation. Both subjects are included in this single arm.

Primary Outcome Measures

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

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Bundang CHA Medical Center; 🇰🇷 Seongnam-si, Gyeonggi-do, Korea, Republic of