Clinical trial NCT02034630: Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRD
Official title: Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Genetic Rare Disease
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: PHASE1
PHASE2
Conditions: Genetic Rare Disease
Keywords: hematopoietic stem cell transplantation
Lead sponsor: Seoul National University Hospital
Sponsor class: OTHER
First posted: 2014-01-13
Enrollment: 5
Sex: ALL
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

Eligibility criteria: 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.

Primary outcomes:
measure: To evaluate engraftment rate
timeFrame: 1 year
Secondary outcomes:
measure: To evaluate treatment related mortality
timeFrame: 1 year
Other outcomes:
measure: To evaluate survival rate
timeFrame: 1, 3, 6 and 12 months after transplantation
measure: To evaluate toxicities associated with hematopoietic stem cell transplantation
timeFrame: 1, 3, 6 and 12 months after transplantation
measure: To evaluate acute GVHD
timeFrame: 1, 3, 6 and 12 months after transplantation
measure: To evaluate chronic GVHD
timeFrame: 1, 3, 6 and 12 months after transplantation
Locations:
city: Seoul
country: Korea, Republic of
facility: Seoul National University Hospital
state: Daehangno, Jongno-gu
Study officials:
affiliation: Seoul National University Hospital
name: Hyoung Jin Kang, M.D., Ph.D
role: PRINCIPAL_INVESTIGATOR
References: