Blood Cell Collection for Future Use in Individuals With Fanconi Anemia

July 11, 2016 updated by: National Heart, Lung, and Blood Institute (NHLBI)

Collection of Hematopoietic Cells From Patients With Fanconi Anemia (FA) for Future Autologous Reinfusion and Research

Fanconi anemia (FA) is a disease that affects an individual's bone marrow. It is caused by a defective gene in the CD34+ cells, which are responsible for producing various types of blood cells. Individuals with FA may experience fatigue, bleeding, and increased infections. The purpose of this study is to collect and purify blood cells from individuals with FA and store them for future therapeutic use.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

FA is a rare, inherited disease that is caused by a gene defect to the CD34+ cells. It primarily affects an individual's bone marrow, resulting in decreased production of blood cells. The lack of white blood cells affects an individual's ability to fight infections, the lack of platelets may result in bleeding, and the lack of red blood cells usually leads to anemia. FA is typically diagnosed in childhood, and there is a high fatality rate. This study will use two methods to collect, purify, and store participant's CD34+ cells for future use in case of severe bone marrow failure. The collected cells will also be used by researchers to better understand the causes of FA and to possibly develop new treatments.

This study will enroll individuals with FA. All participants will undergo a bone marrow biopsy within 3 months of study entry. Based on the results of this biopsy, participants will undergo either a bone marrow harvest procedure or a cytokine mobilized peripheral blood stem cell (PBSC) collection procedure. Prior to both procedures, medical history will be reviewed, blood will be drawn, liver and kidney function will be evaluated, and a physical examination will be performed. Participants who undergo the bone marrow harvest procedure will be admitted to the hospital, with a possible overnight stay for observation. The following day, participants will have a physical examination and blood draw for laboratory testing. A blood and/or platelet transfusion may be required following the procedure.

Participants who undergo the PBSC procedure will be required to receive injections of G-CSF, a protein found normally in the body, twice a day for 4 to 8 days prior to the procedure; G-CSF has been found to help increase the amount of CD34+ cells in the blood. Once the CD34+ level is within a certain range, the PBSC procedure will begin through an IV placed in the arm or a temporary collection catheter placed under the participants' collarbone. Blood cells will be collected, with some cells separated out and the remainder of the cells infused back into the participant. The length of this procedure will vary for each participant; it will take 3 to 6 hours a day, for 1 to 4 days. Participants may require blood and/or platelet transfusions prior to and during the procedure.

Following the bone marrow harvest and PBSC procedures, CD34+ cells will be isolated in a laboratory. The majority of the cells will be frozen and stored for future use by the participants. A small portion of the cells will be available for researchers to perform experimental research to better understand FA.

The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.

Study Type

Interventional

Enrollment (Anticipated)

40

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Cincinnati Children's Hospital Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 35 years (ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Diagnosis of FA
  • Normal bone marrow cytogenetics within 3 months of study entry
  • Absolute neutrophil count (ANC) level greater than 750
  • Hemoglobin level greater than 8 without transfusion
  • Platelet level greater than 30,000 without transfusion
  • Must weigh at least 7.5 kg

Exclusion Criteria:

  • Myloid or lymphoid leukemia
  • Cytogenic abnormalities
  • HIV infected
  • Neoplastic or non-neoplastic disease of any major organ system that would compromise the ability to withstand the collection procedure
  • Uncontrolled infection
  • Unable to tolerate general anesthesia
  • Known adverse reaction to E. Coli
  • Pregnant or breastfeeding

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: TREATMENT
  • Allocation: NON_RANDOMIZED
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

What is the study measuring?

Primary Outcome Measures

Outcome Measure
CD34+ cell collection

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Collaborators

Children's Hospital Medical Center, Cincinnati

Investigators

  • Principal Investigator: Stella Davies, MBBS, Children's Hospital Medical Center, Cincinnati

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2004

Study Completion (ACTUAL)

October 1, 2007

Study Registration Dates

First Submitted

December 29, 2005

First Submitted That Met QC Criteria

December 29, 2005

First Posted (ESTIMATE)

December 30, 2005

Study Record Updates

Last Update Posted (ESTIMATE)

July 12, 2016

Last Update Submitted That Met QC Criteria

July 11, 2016

Last Verified

December 1, 2007

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 378
  • R01HL081499-01A1 (NIH)
  • CCHMCEH001

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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