Umbilical Cord Blood Transfusion in Progeria Syndrome

• Sponsor: Bundang CHA Hospital
• Information provided by (Responsible Party): MinYoung Kim, MD, PhD, Bundang CHA Hospital

Study Description

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.

Condition or disease	Intervention/treatment	Phase
Hutchinson-Gilford Progeria Syndrome	Drug: Umbilical Cord Blood Unit	Phase 1; Phase 2

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 Design

• Study Type: Interventional (Clinical Trial)
• Actual Enrollment: 2 participants
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Treatment
• Official Title: Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome
• Actual Study Start Date: March 5, 2019
• Estimated Primary Completion Date: September 5, 2020
• Estimated Study Completion Date: September 5, 2020

Arms and Interventions

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 Name: Oral Sirolimus

Outcome Measures

Primary Outcome Measures :

1. Change from baseline Carotid-femoral pulse wave velocity at 48 weeks [ Time Frame: 48 weeks after UCB infusion ]
   measured by carotid doppler ultrasonography
2. Change from baseline serum HDL cholesterol at 48 weeks [ Time Frame: 48 weeks after UCB infusion ]
   taken on routine lab
3. Change from baseline weight at 48 weeks [ Time Frame: 48 weeks after UCB infusion ]
   measured by bioimpedance analysis

Secondary Outcome Measures :

1. Ankle-brachial index [ Time Frame: baseline, 48 weeks after UCB infusion ]
   measured by automatic blood pressure gauge
2. Body fat proportion [ Time Frame: baseline, 48 weeks after UCB infusion ]
   taken by bioimpedance analysis
3. Range of motion [ Time Frame: baseline, 48 weeks after UCB infusion ]
   measured manually
4. height [ Time Frame: baseline, 48 weeks after UCB infusion ]
   measured by bioimpedance analysis

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Criteria

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

Contacts and Locations

Locations

Korea, Republic of

Bundang CHA Medical Center

Seongnam-si, Gyeonggi-do, Korea, Republic of, 13496

Sponsors and Collaborators

Bundang CHA Hospital

Investigators

• Principal Investigator: Min Young Kim, MD, PhD; CHA University

More Information

• Responsible Party: MinYoung Kim, MD, PhD, Head of Rehabilitation Medicine Department, Professor, Principal Investigator, Bundang CHA Hospital
• ClinicalTrials.gov Identifier: NCT03871972 History of Changes
• Other Study ID Numbers: 2018-12-031
• First Posted: March 12, 2019
• Last Update Posted: April 23, 2019
• Last Verified: April 2019

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:

Syndrome; Progeria; Disease; Pathologic Processes; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Sirolimus; Anti-Bacterial Agents; Anti-Infective Agents; Antibiotics, Antineoplastic; Antineoplastic Agents; Antifungal Agents; Immunosuppressive Agents; Immunologic Factors; Physiological Effects of Drugs