Umbilical Cord Blood Transfusion in Progeria Syndrome

Bundang CHA Hospital

Status and phase: Completed; Phase 2; Phase 1

Conditions: Hutchinson-Gilford Progeria Syndrome

Treatments: Drug: Umbilical Cord Blood Unit

Study type: Interventional

Funder types: Other

Identifiers

NCT03871972

2018-12-031

Details and patient eligibility

About

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.

Full 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.

Enrollment: 2 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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2 participants in 1 patient group

UCB injection group

Experimental group

Description:

This pilot study includes only 2 subjects who are enrolled by invitation. Both subjects are included in this single arm.

Treatment:

Drug: Umbilical Cord Blood Unit