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Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100

This study has been completed.
Information provided by (Responsible Party):
Children's Hospital Medical Center, Cincinnati Identifier:
First received: May 23, 2007
Last updated: February 15, 2012
Last verified: February 2012

The purpose of this research study is to determine whether an experimental drug called AMD3100 used in combination with another medication called G-CSF is safe and can help to increase the amount of blood stem cells (called CD34+ stem cells) found in the peripheral blood of patients with Fanconi anemia. While AMD3100 has been used successfully in adult volunteers and cancer patients, it has not been used in children or patients with Fanconi anemia and in only a few children with cancer.

Fanconi anemia is a rare genetic disease. Most Fanconi anemia patients eventually develop bone marrow failure, a condition in which the bone marrow no longer produces red blood cells (to carry oxygen), white blood cells (to fight infection), and platelets (to help blood clot). The only successful treatment for patients with Fanconi anemia with bone marrow failure is bone marrow transplantation. However, this treatment has many risks and is not available to all patients with Fanconi anemia.

CD34+ cells include stem cells found in the bone marrow or peripheral blood which are capable of making the red blood cells, white blood cells, and platelets. CD34+ stem cells can be collected from bone marrow or peripheral blood and purified using an experimental device called the CliniMACS. However, most Fanconi anemia patients do not have enough CD34+ stem cells in their bone marrow or peripheral blood to be collected using standard methods that work well in children and adults who don't have Fanconi anemia.

Condition Intervention Phase
Fanconi Anemia
Drug: AMD3100
Device: AmCell CliniMACs
Phase 1
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Supportive Care
Official Title: AMD3100 in Combination With G-CSF to Mobilize Peripheral Blood Stem Cells in Patients With Fanconi Anemia(FA): A Phase I/II Study

Resource links provided by NLM:

Further study details as provided by Children's Hospital Medical Center, Cincinnati:

Primary Outcome Measures:
  • Measure safety and efficacy of AMD3100 used in combination with standard dose G-CSF in Fanconi anemia patients to mobilize sufficient number of peripheral blood CD34+ cells for peripheral blood apheresis. [ Time Frame: 2 years ]

Enrollment: 1
Study Start Date: May 2007
Study Completion Date: December 2010
Primary Completion Date: December 2010 (Final data collection date for primary outcome measure)
Intervention Details:
    Drug: AMD3100
    240 mcg/kg subcutaneously, minimum of two days; maximum of eight days
    Device: AmCell CliniMACs
    CD34+ cell selection from peripheral collection
  Show Detailed Description


Ages Eligible for Study:   1 Year to 30 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  1. Patients must have had a diagnosis of Fanconi anemia confirmed by a positive test for increased chromosomal breakage with mitomycin C or diepoxybutane from peripheral blood, bone marrow or amniotic fluid.
  2. Bone marrow biopsy/aspirate with cellularity (mononuclear cells per ml of bone marrow obtained), CD34+ content (% of MNC), and normal cytogenetics within three months of collection.
  3. For the first two cohorts: Absolute neutrophil count > 750/mm3, Hemoglobin > 8 gm/dl without transfusion, platelet count > 50,000/mm3 without transfusion (within 30 days prior to bone marrow collection or PB stem cell mobilization). For the final cohort, the platelet count will be >30,000/mm3 without transfusion (within 30 days prior to bone marrow collection or PB stem cell mobilization).
  4. Minimum weight: 7.5 kg.
  5. Age:

    First cohort - > 7 Second cohort - > 3 Third cohort - >1.

  6. Ability of patient or parent/legal guardian to consent for bone marrow harvest.
  7. Ability of patient or parent/legal guardian to consent for placement of temporary apheresis catheter.
  8. Ability of patient or parent/legal guardian to consent for apheresis collection.
  9. Ability of patient or parent/legal guardian to consent for PRBC/platelet transfusions.

Exclusion Criteria:

  1. Myeloid or lymphoid leukemia.
  2. Clonal cytogenetic abnormality of bone marrow or peripheral blood lymphocytes (in >2 metaphases by G-banded karyotype or any chromosome deletions of chromosome 7 by Fluorescence in situ hybridization or FISH).
  3. Pregnancy or lactation. Women with childbearing potential who are to be collected will be advised that the marrow harvest procedure or the risk of G-CSF used for stem cell mobilization may be teratogenic and will be required to take adequate measures to prevent contraception.
  4. Concurrent enrollment in any study using an investigational drug (defined as a drug not approved by the FDA) with the exception of androgens or thyroxine.
  5. Physical or emotional status that would prevent compliance, ability to understand treatment plan or adequate follow-up.
  6. HIV positive patients.
  7. Patients with neoplastic or non-neoplastic disease of any major organ system that would compromise their ability to withstand the bone marrow harvest or apheresis procedure.
  8. Patients with uncontrolled (culture or biopsy positive) infection requiring intravenous antivirals, antibiotics, or antifungals. Patients on prolonged antifungal therapy are still eligible if they are culture or biopsy negative in residual radiographic lesions, and they meet the other organ function criteria.
  9. Patients unable to tolerate general anesthesia.
  10. Known adverse reaction to E. coli products or G-CSF and any contraindication to leukocytosis or hypocalcemia or (where indicated) central line placement.
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Please refer to this study by its identifier: NCT00479115

United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Sponsors and Collaborators
Children's Hospital Medical Center, Cincinnati
Principal Investigator: Stella Davies, MD Children's Hospital Medical Center, Cincinnati
  More Information

Responsible Party: Children's Hospital Medical Center, Cincinnati Identifier: NCT00479115     History of Changes
Other Study ID Numbers: CCHMCEH004
R01HL081499 ( US NIH Grant/Contract Award Number )
Study First Received: May 23, 2007
Last Updated: February 15, 2012

Additional relevant MeSH terms:
Fanconi Anemia
Fanconi Syndrome
Hematologic Diseases
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Bone Marrow Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors
JM 3100
Anti-HIV Agents
Anti-Retroviral Agents
Antiviral Agents
Anti-Infective Agents processed this record on April 25, 2017