Apheresis of Patients With Immunodeficiency
- Conditions
- LAD-1DOCK8GATA2 Deficancy
- Registration Number
- NCT01212055
- Lead Sponsor
- National Cancer Institute (NCI)
- Brief Summary
Background:
- Gene therapy is being investigated as a possible treatment for individuals with immunodeficiency diseases or other conditions that make it difficult to fight off infection. Gene therapy avoids problems with donor identification and possible rejection of bone marrow transplant by using the patient s own modified blood cells to help treat the disease. Researchers are interested in collecting stem cells from the blood of individuals with immunodeficiency diseases in order to use the cells to develop potential gene therapy treatments.
Objectives:
- To collect blood stem cells from patients with immunodeficiency diseases tto test our ability to correct the defects of these cells in the test tube.
Eligibility:
* Individuals between 18 and 40 years of age with immunodeficiency diseases.
* Individuals with human immunodeficiency virus (HIV) will not be able to participate in this study.
Design:
* Participants will provide an initial blood sample for disease screening (such as hepatitis B and C, syphilis, or viruses like the Epstein-Barr virus, herpes simplex virus, or toxoplasmosis) and to check kidney and liver function.
* Starting 5 days before blood donation, participants will receive daily injections of a drug called G-CSF (granulocyte colony stimulating factor, or filgrastim), which pushes stem cells out of the bone marrow and into the bloodstream. Participants will receive the injections at the National Institutes of Health Clinical Center.
* On day 5, participants will have a single leukapheresis procedure to collect the stem cells from the blood.
* No additional treatment will be provided as part of this protocol. The cells that are collected will be used fore experiments in the lab and will not be used to treat individuals with these diseases.
- Detailed Description
Background:
Primary immunodeficiency diseases (PID) represent candidate genetic disorders for new therapeutic approaches. Our laboratory is developing new therapies for individuals with PID using autologous CD34+ hematopoietic stem cells (HSC). Newer therapies may circumvent problems with allogeneic HSC transplantation, especially graft rejection and graft-versus-host-disease. We are particularly interested in three PID: Dedicator of CytoKinesis-8 (DOCK8) deficiency, Leukocyte Adhesion Deficiency type 1 (LAD-1), and GATA2 Deficiency. For all three diseases the gene has been cloned. Testing new therapies for these diseases would be considerably enhanced by the acquisition of peripheral blood CD34+ cells from individuals with these immunodeficiency diseases.
Objectives:
To provide a source of filgrastim or filgrastim biosimilar mobilized peripheral blood CD34+ hematopoietic stem cells (HSC) for laboratory research studies for DOCK8 deficiency, LAD-1, and GATA2 Deficiency.
Eligibility:
Individuals 18-40 years old with DOCK8 deficiency, LAD-1, and GATA2 Deficiency who meet the eligibility requirements will be considered for this protocol.
Design:
Individuals 18-40 years old with DOCK8 deficiency, LAD-1, and GATA2 Deficiency will receive five days of filgrastim or filgrastim biosimilar followed by a single apheresis. CD34+ cells will be selected and frozen in aliquots by the Cell Processing Section of the Department of Transfusion Medicine. No treatments, or investigational therapy will be administered on this protocol.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 7
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method To collect blood stem cells from patients with immunodeficiency diseases to test our ability to correct the defects of these cells in the test tube. 5 days Obtain granulocyte colony stimulating factor mobilized peripheral blood CD34+ hematopoietic stem cells (HSC) by apheresis for laboratory research studies for DOCK8 deficiency, LAD-1, and GATA2 deficiency.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States