Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia


Lead sponsor: University of Minnesota

Source Office of Rare Diseases (ORD)
Brief Summary

OBJECTIVES: I. Determine the safety of transferring the Fanconi anemia complementation group C (FACC) gene to hematopoietic progenitors by retroviral mediated gene transfer in patients with Fanconi's anemia, complementation group C.

II. Determine the extent of engraftment following this treatment regimen without prior ablation of recipient marrow in these patients.

III. Determine the ability of this treatment regimen to correct the cell phenotype and improve hematopoietic function in these patients.

Detailed Description

PROTOCOL OUTLINE: Patients receive filgrastim (G-CSF) subcutaneously daily on days 0-6 followed by apheresis to collect peripheral blood stem cells (PBSC) on days 5-7. PBSCs are processed in vitro for enrichment of CD34 cells and transduced with a Fanconi's anemia complementation C (FACC) retroviral vector on days 5-10. Patients receive transduced PBSCs IV over no more than 2 hours on days 8-10. PBSC infusions may be repeated no more than every 2 months for up to 4 courses total.

Patients are followed monthly for 3 months, every 3 months for 9 months, every 6 months for the next year, and then yearly thereafter.

Overall Status Unknown status
Start Date March 2000
Phase Phase 1
Study Type Interventional
Enrollment 6

Intervention type: Drug

Intervention name: filgrastim

Intervention type: Genetic

Intervention name: Autologous stem cells transduced with FACC retroviral vector

Intervention type: Procedure

Intervention name: Autologous Stem Cell Transplantation




--Disease Characteristics--

- Fanconi's anemia, complementation group C (FACC) Confirmed by diepoxybutane or mitomycin testing AND DNA analysis indicating FACC mutations

- Patients at least 25 kg weight

- No acute leukemia OR Bone marrow aspirate with greater than 10% blasts

- No patients who elect bone marrow transplantation

--Prior/Concurrent Therapy--

- At least 14 days since prior therapy for any acute viral, bacterial, or fungal infection

--Patient Characteristics--

- Performance status: Karnofsky 40-100%

- Hepatic: SGOT, SGPT, and alkaline phosphatase no greater than 5 times upper limit of normal (ULN) PT/PTT no greater than 1.5 times ULN Serum amylase no greater than 1.5 times ULN Bilirubin no greater than 2.5 mg/dL Triglyceride less than 400 mg/dL

- Renal: Creatinine clearance greater than 50 mL/min

- Cardiovascular: Normal cardiac function No ischemic heart disease that may be considered an anesthetic or operative risk

- Pulmonary: No lung disease that may be considered an anesthetic or operative risk Resting transcutaneous oxygen saturation greater than 90% on room air

- Other: HIV negative Hepatitis B surface antigen negative No underlying condition that may preclude study therapy (e.g., allergies to study reagents)

- No acute viral, bacterial, or fungal infection Not pregnant or nursing Negative pregnancy test Fertile patients must use effective contraception

Gender: All

Minimum age: 5 Years

Maximum age: N/A

Healthy volunteers: No

Overall Official
Last Name Role Affiliation
John E. Wagner, Jr. Study Chair Masonic Cancer Center, University of Minnesota
Verification Date

March 2001

Has Expanded Access No
Condition Browse
Study Design Info

Primary purpose: Treatment