Genetic Rare Disease
Conditions
Keywords
hematopoietic stem cell transplantation
Brief summary
To evaluate the outcome of hematopoietic stem cell transplantation using targeted busulfan, fludarabine conditioning regimen in genetic rare disease
Detailed description
Busulfan is a highly toxic drug with narrow therapeutic window used for the conditioning of hematopoietic stem cell transplantation. High exposure is associated with systemic toxicity such as veno-occlusive disease (VOD) and underexposure is associated with graft failure or relapse. In this study the investigators plan to improve the outcome of hematopoietic stem cell transplantation by using optimal busulfan dose through pharmacokinetic study.
Interventions
DRUGBusulfan
First dose: busulfan (120 mg/m2 ivs once daily) (if age\<1 yr: 80 mg/ m2) Second to forth dose: according to the daily pharmacokinetic study
Sponsors
Seoul National University Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 21 Years
Healthy volunteers
No
Inclusion criteria
1. Patients who are diagnosed as genetic rare disease. 2. Patients who need hematopoietic stem cell transplantation 3. Age: up to 21 years 4. Performance status: ECOG 0-2. 5. Patients must be free of significant functional deficits in major organs, but the following eligibility criteria may be modified in individual cases. 1. Heart: a shortening fraction \> 30% and ejection fraction \> 45%. 2. Liver: total bilirubin \< 2 × upper limit of normal; ALT \< 3 × upper limit of normal. 3. Kidney: creatinine \<2 × normal or a creatinine clearance (GFR) \> 60 ml/min/1.73m2. 6. Patients must lack any active viral infections or active fungal infection. 7. Appropriate donor is available: Matched in 6/6 of A, B, DR loci. 8. Patients (or one of parents if patients age \< 19) should sign informed consent.
Exclusion criteria
1. Pregnant or nursing women. 2. Malignant or nonmalignant illness that is uncontrolled or whose control may be jeopardized by complications of study therapy. 3. Psychiatric disorder that would preclude compliance.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To evaluate engraftment rate | 1 year | To evaluate engraftment rate |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| To evaluate treatment related mortality | 1 year | To evaluate treatment related mortality |
Other
| Measure | Time frame | Description |
|---|---|---|
| To evaluate survival rate | 1, 3, 6 and 12 months after transplantation | To evaluate survival rate |
| To evaluate toxicities associated with hematopoietic stem cell transplantation | 1, 3, 6 and 12 months after transplantation | To evaluate toxicities associated with hematopoietic stem cell transplantation |
| To evaluate acute GVHD | 1, 3, 6 and 12 months after transplantation | To evaluate acute GVHD |
| To evaluate chronic GVHD | 1, 3, 6 and 12 months after transplantation | To evaluate chronic GVHD |
Countries
South Korea
Contacts
Primary ContactHyoung Jin Kang, MD, PhD
Backup ContactJi Won Lee, MD
Outcome results
None listed