Gene Therapy for the Treatment of Fanconi's Anemia Type C

• Register: ClinicalTrials.gov
• Last refreshed on: 16 December 2017
• Main ID: NCT00001399
• Date of registration: 03/11/1999
• Prospective Registration: No
• Primary sponsor: National Heart, Lung, and Blood Institute (NHLBI)
• Public title: Gene Therapy for the Treatment of Fanconi's Anemia Type C
• Scientific title: Retroviral Mediated Gene Transfer of the Fanconi Anemia Complementation Group C Gene to Hematopoietic Progenitors of Group C Patients
• Date of first enrolment: December 3, 1993
• Target sample size: 9
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT00001399
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1

Countries of recruitment

United States

Key inclusion & exclusion criteria

- INCLUSION CRITERIA:

Patients must meet the following criteria within 30 days prior to study entry (Day 0)
unless otherwise noted.

Males or females, age greater than or equal to 5 years of age.

Diagnosis of Fanconi anemia, complementation group C, as confirmed by 1) Diepoxybutane or
mitomycin C testing and 2) DNA analysis indicating FACC mutations.

Adequate baseline organ function as assessed by the following laboratory values within 30
days prior to study entry (day -30 to 0).

Adequate renal function with estimated creatinine clearance greater than 50 ml/min. (This
will be determined by serum creatinine and 24-hour urine creatinine ordered concurrently).

Adequate liver function with SGOT, SGPT and alkaline phosphatase less than or equal to 5
times the ULN (if transaminases greater than the upper limit of normal (ULN), patients
should have a hepatitis B surface antigen (HBsAG) test prior to study entry. Patients may
not enter the study if HBsAG is positive).

PT and PTT not more than 1.5 times the ULN.

Serum Amylase less than or equal to 1.5 times the ULN.

Bilirubin less than or equal to 3.0 mg/dL.

Triglyceride less than 400 mg/dl.

Ability to give informed consent.

Normal cardiac function by history and exam.

Resting transcutaneous oxygen saturation greater than 90 percent on room air.

Karnofsky Performance Status greater than or equal to 40.

Although there are no blood count criteria for inclusion in this study, preference will be
given to patients with significant marrow failure as reflected by anemia, neutropenia,
and/or thrombocytopenia. Furthermore, we intend to first enroll adults and older children,
to the extent possible, before enrolling younger children.

EXCLUSION CRITERIA:

Patients who meet any one of the following criteria will be excluded from study entry:

Patients presenting with acute leukemia or bone marrow aspirate revealing greater than 10
percent blasts.

Pregnant or lactating females (all patients must practice adequate birth control and
females of child-bearing potential must have a negative serum beta-HCG pregnancy test
(within Day -7 to Day 0).

Acute infection: any acute viral, bacterial, or fungal infection which requires specific
therapy. Acute therapy must have been completed within 14 days prior to study treatment.

Hepatitis-B surface antigen positive patients.

HIV-infected patients.

Acute medical problems such as ischemic heart or lung disease that may be considered an
unacceptable anesthetic or operative risk.

No patients with any underlying conditions which would contraindicate therapy with study
treatment (or allergies to reagents used in this study).

Patients less than 25 kg in weight .

Patients who elect bone marrow transplantation.



Age minimum: 5 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Pancytopenia

Fanconi's Anemia

Intervention(s)

Drug: Transduced CD34+ Cells

Secondary ID(s)

940033

94-H-0033

Source(s) of Monetary Support

Please refer to primary and secondary sponsors