Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome

• Register: ClinicalTrials.gov
• Last refreshed on: 21 August 2023
• Main ID: NCT01410825
• Date of registration: 04/08/2011
• Prospective Registration: No
• Primary sponsor: David Williams
• Public title: Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome
• Scientific title: Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome
• Date of first enrolment: July 2011
• Target sample size: 5
• Recruitment status: Active, not recruiting
• URL: https://clinicaltrials.gov/ct2/show/NCT01410825
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1/Phase 2

Countries of recruitment

United States

Contacts

• Name: Jennifer Whangbo, M.D.
• Affiliation: Boston Children's Hospital

Key inclusion & exclusion criteria

Inclusion Criteria:

1. Confirmed molecular diagnosis by DNA sequencing and either

1. absence of the WAS protein by flow cytometry OR

2. clinical score 3-5

2. Age 3 months to 35 years

3. For subjects < 5 years of age:

1. Lack of HLA-genotypically identical bone marrow donor.

2. Lack of a 9/10 or 10/10 molecularly HLA-matched unrelated donor after 3 months of
searching.

3. Lack of a 6/6 molecularly HLA-matched cord blood donor of adequate cell number
after 3 months of searching

4. For subjects 5 years of age or older:

a.Lack of HLA-genotypically identical bone marrow donor.

5. Subjects who have undergone allogeneic transplant previously must additionally have:

1. Failure defined as <5% donor T cell engraftment and

2. Contraindication to re-use of the same donor due to severe GVHD or
non-availability.

6. Parental/guardian/patient signed informed consent

7. Willingness to return for follow-up during the 5 year study period.

8. Adequate organ function and performance status

1. Performance status =50% (Lansky play for age <16 years, Karnofsky for age =16
years)

2. Left ventricular ejection fraction >40% or shortening fraction >25%

3. Bilirubin = 2.0 mg/dL

4. Measured creatinine clearance or GFR by nuclear medicine study =40 ml/min/1.73 m2

5. DLCO (corrected for hemoglobin), FEV1, FVC >50% of predicted; if age < 7 years,
then oxygen saturation >92% on room air

Exclusion Criteria:

1. Contraindication to bone marrow harvest, or to administration of conditioning
medication.

2. Known positive HIV serology or HIV nucleic acid testing.

3. Other uncontrolled infection.

4. Active malignancy other than EBV lymphoproliferative disease.

5. Known myelodysplasia of the bone marrow or abnormal bone marrow cytogenetics

6. Congenital cardiac disease with congestive heart failure

7. Oxygen dependence at baseline

8. 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



Age minimum: 3 Months
Age maximum: 35 Years
Gender: Male

Health Condition(s) or Problem(s) studied

Wiskott-Aldrich Syndrome

Intervention(s)

Biological: Retrovirus-mediated gene transfer

Primary Outcome(s)

Engraftment of genetically corrected T cells [Time Frame: 5 Years]

Safety of infusion of transduced cells [Time Frame: 5 Years]

Secondary ID(s)

CHB-P00000148

Source(s) of Monetary Support

Please refer to primary and secondary sponsors