Status:
COMPLETED
Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome
Lead Sponsor:
David Williams
Conditions:
Wiskott-Aldrich Syndrome
Eligibility:
MALE
3-35 years
Phase:
PHASE1
PHASE2
Brief Summary
The Wiskott-Aldrich Syndrome (WAS) is an inherited disorder that results in defects of the blood and bone marrow. It affects boys because the genetic mistake is carried on the X chromosome. Normal peo...
Detailed Description
Wiskott-Aldrich syndrome (WAS) (OMIM 301000) is a rare X-linked immunodeficiency caused by mutations in a single gene, WAS, mapping to Xp11.22-Xp11.3 and coding for the Wiskott-Aldrich Syndrome Protei...
Eligibility Criteria
Inclusion
- Confirmed molecular diagnosis by DNA sequencing and either
- absence of the WAS protein by flow cytometry OR
- clinical score 3-5
- Age 3 months to 35 years
- For subjects \< 5 years of age:
- Lack of HLA-genotypically identical bone marrow donor.
- Lack of a 9/10 or 10/10 molecularly HLA-matched unrelated donor after 3 months of searching.
- Lack of a 6/6 molecularly HLA-matched cord blood donor of adequate cell number after 3 months of searching
- For subjects 5 years of age or older:
- a.Lack of HLA-genotypically identical bone marrow donor.
- Subjects who have undergone allogeneic transplant previously must additionally have:
- Failure defined as \<5% donor T cell engraftment and
- Contraindication to re-use of the same donor due to severe GVHD or non-availability.
- Parental/guardian/patient signed informed consent
- Willingness to return for follow-up during the 5 year study period.
- Adequate organ function and performance status
- Performance status ≥50% (Lansky play for age \<16 years, Karnofsky for age ≥16 years)
- Left ventricular ejection fraction \>40% or shortening fraction \>25%
- Bilirubin ≤ 2.0 mg/dL
- Measured creatinine clearance or GFR by nuclear medicine study ≥40 ml/min/1.73 m2
- DLCO (corrected for hemoglobin), FEV1, FVC \>50% of predicted; if age \< 7 years, then oxygen saturation \>92% on room air
Exclusion
- Contraindication to bone marrow harvest, or to administration of conditioning medication.
- Known positive HIV serology or HIV nucleic acid testing.
- Other uncontrolled infection.
- Active malignancy other than EBV lymphoproliferative disease.
- Known myelodysplasia of the bone marrow or abnormal bone marrow cytogenetics
- Congenital cardiac disease with congestive heart failure
- Oxygen dependence at baseline
- Any other condition that, in the opinion of the Investigator, may compromise the safety or compliance of the patient or would preclude the patient from successful study completion. This may include but is not limited to:
- Severe deterioration of clinical condition after collection of cells but before infusion of transduced cells
- Documented refusal or inability of the family to return for scheduled visits
- Other concerns about unwillingness or inability to comply with protocol requirements
- Unforeseen rare circumstances such as sudden loss of legal guardianship
Key Trial Info
Start Date :
July 1 2011
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
September 1 2024
Estimated Enrollment :
5 Patients enrolled
Trial Details
Trial ID
NCT01410825
Start Date
July 1 2011
End Date
September 1 2024
Last Update
August 14 2025
Active Locations (1)
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1
Children's Hospital Boston
Boston, Massachusetts, United States, 02116