Clinical trial NCT03871972: Umbilical Cord Blood Transfusion in Progeria Syndrome
Official title: Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE1
PHASE2
Conditions: Hutchinson-Gilford Progeria Syndrome
Lead sponsor: Bundang CHA Hospital
Sponsor class: OTHER
First posted: 2019-03-12
Enrollment: 2
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

Eligibility 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

Primary outcomes:
measure: Change from baseline Carotid-femoral pulse wave velocity at 48 weeks
timeFrame: 48 weeks after UCB infusion
measure: Change from baseline serum HDL cholesterol at 48 weeks
timeFrame: 48 weeks after UCB infusion
measure: Change from baseline weight at 48 weeks
timeFrame: 48 weeks after UCB infusion
Secondary outcomes:
measure: Ankle-brachial index
timeFrame: baseline, 48 weeks after UCB infusion
measure: Body fat proportion
timeFrame: baseline, 48 weeks after UCB infusion
measure: Range of motion
timeFrame: baseline, 48 weeks after UCB infusion
measure: height
timeFrame: baseline, 48 weeks after UCB infusion
Other outcomes:
Locations:
city: Seongnam-si
country: Korea, Republic of
facility: Bundang CHA Medical Center
state: Gyeonggi-do
Study officials:
affiliation: CHA University
name: Min Young Kim, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: