Hutchinson-Gilford Progeria Syndrome
Conditions
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.
Interventions
DRUGUmbilical 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)
Sponsors
Bundang CHA Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
| Change from baseline weight at 48 weeks | 48 weeks after UCB infusion | measured by bioimpedance analysis |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Ankle-brachial index | baseline, 48 weeks after UCB infusion | measured by automatic blood pressure gauge |
| height | baseline, 48 weeks after UCB infusion | measured by bioimpedance analysis |
| Body fat proportion | baseline, 48 weeks after UCB infusion | taken by bioimpedance analysis |
| Range of motion | baseline, 48 weeks after UCB infusion | measured manually |
Countries
South Korea
Outcome results
None listed