Umbilical Cord Blood Transfusion in Progeria Syndrome

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

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.

Study Overview

• Status: Completed
• Conditions: Hutchinson-Gilford Progeria Syndrome
• Intervention / Treatment: Drug: Umbilical Cord Blood Unit

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 Type: Interventional
• Enrollment (Actual): 2
• Phase: Phase 2; Phase 1

Contacts and Locations

Study Locations

• Korea, Republic of
  • Gyeonggi-do
    • Seongnam-si, Gyeonggi-do, Korea, Republic of, 13496
      • Bundang Cha Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: UCB injection group; 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; 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); Other Names: Oral Sirolimus

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Bundang CHA Hospital
• Investigators: Principal Investigator: Min Young Kim, MD, PhD, CHA University

Study record dates

Study Major Dates

• Study Start (Actual): March 5, 2019
• Primary Completion (Actual): June 1, 2020
• Study Completion (Actual): June 1, 2020

Study Registration Dates

• First Submitted: March 7, 2019
• First Submitted That Met QC Criteria: March 11, 2019
• First Posted (Actual): March 12, 2019

Study Record Updates

• Last Update Posted (Actual): November 4, 2020
• Last Update Submitted That Met QC Criteria: November 2, 2020
• Last Verified: November 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Disease; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Laminopathies; Syndrome; Progeria; Physiological Effects of Drugs; Anti-Infective Agents; Antineoplastic Agents; Immunosuppressive Agents; Immunologic Factors; Anti-Bacterial Agents; Antibiotics, Antineoplastic; Antifungal Agents; Sirolimus
• Other Study ID Numbers: 2018-12-031

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No