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Phase I/II Study of Reduced Toxicity Myeloablative Conditioning Regimen for Wiskott-Aldrich Syndrome

Phase 1/Phase 2
1 Year
25 Years
Not Enrolling
Wiskott-Aldrich Syndrome

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Trial Information

Phase I/II Study of Reduced Toxicity Myeloablative Conditioning Regimen for Wiskott-Aldrich Syndrome

Wiskott-Aldrich syndrome (WAS) is an rare X-linked congenital immune-deficiency syndrome
characterized by the triad of recurrent infection, eczema and thrombocytopenia with small
size of platelet (Puck JM, 2006). Clinical studies revealed high rate of autoimmune disorder
and malignancy in WAS (Ochs HD, 2006). The identification of the molecular defect in 1994
(Derry JM, 1994) has broadened the clinical spectrum of the syndrome to include chronic or
intermittent X-linked thrombocytopenia (XLT), a relatively mild form of WAS and X-lined
neutropenia caused by an arrest of myelopoiesis (Ochs HD, 2006).

The incidence of WAS in Korea was very low and only 6 patients diagnosed between 2001 and
2005 (Kim JG, 2006).

Conventional treatments for WAS such as prophylactic antibiotics and immune globin for
infection and platelet transfusion for bleeding were not so successful (Thrasher AJ, 2000).
Bone marrow transplantation (BMT) from an HLA-matched related donor is an effective
treatment (Filipovich AH, 2001) and patients without appropriate related donor could receive
alternative stem cell source such as matched unrelated donor or cord blood. But the
transplant with the alternative donor needed more intensive conditioning to overcome the
hematologic and immunologic barrier with increased treatment related toxicity. Further
progress depends in particular on the development of alternative preparative conditioning
regimens which allow stable engraftment of donor precursor cells with minimal systemic toxic
side effects (Friedrich W, 2004).

Recently, we reported successful unrelated bone marrow transplantation in a boy with WAS
with reduced toxicity myeloablative conditioning regimen to increase the engraftment
potential without serious complication (Kang, 2008), and extended to multicenter phase I/II
pilot study with this reduced toxicity myeloablative conditioning regimen in the HSCT for

Inclusion Criteria:

1. Diagnosis of Wiskott-Aldrich syndrome with gene analysis.

2. Indicated for hematopoietic stem cell transplantation.

3. Age: no limitation.

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:

- Heart: a shortening fraction > 30%, ejection fraction > 45%.

- Liver: total bilirubin < 2 × upper limit of normal; ALT < 3 × upper limit of

- Kidney: creatinine <2 × normal or a creatinine clearance (GFR) > 60

6. Patients must lack any active viral infections or active fungal infection.

7. Appropriate hematopoietic stem cell donor is available.

8. Patients (or one of parents if patients age < 19) should sign informed consent.

Exclusion Criteria:

1. Pregnant or nursing women.

2. Malignant (except acute myeloid leukemia) or nonmalignant illness that is
uncontrolled or whose control may be jeopardized by complications of study therapy.

3. Psychiatric disorder that would preclude compliance.

Type of Study:


Study Design:

Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Outcome Measure:

To evaluate the engraftment potential of fludarabine, busulfan plus thymoglobulin conditioning regimen for HSCT in WAS.

Outcome Time Frame:

Feb. 2007 to Jan. 2012

Safety Issue:


Principal Investigator

Hyo Seop Ahn, Ph. D

Investigator Role:

Principal Investigator

Investigator Affiliation:

The Korean Society of Pediatric Hematology Oncology


Korea: Food and Drug Administration

Study ID:




Start Date:

February 2007

Completion Date:

March 2012

Related Keywords:

  • Wiskott-Aldrich Syndrome
  • Wiskott-Aldrich syndrome
  • HSCT
  • Wiskott-Aldrich Syndrome