Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency
-
- STATUS
- Recruiting
-
- participants needed
- 6
-
- sponsor
- National Cancer Institute (NCI)
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.
- 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.
Description
Background
Primary immunodeficiency diseases (PID) represent candidate genetic disorders for new therapeutic approaches. Our laboratory is developing new therapies for patients 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 patients with these immunodeficiency diseases.
Objectives
To provide a source of granulocyte colony stimulating factor (Filgrastim) mobilized peripheral blood CD34+ hematopoietic stem cells (HSC) for laboratory research studies for DOCK8 deficiency, LAD-1, and GATA2 Deficiency.
Eligibility
Patients 18-40 years old with DOCK8 deficiency, LAD-1, and GATA2 Deficiency who meet the eligibility requirements will be considered for this protocol.
Design
Patients 18-40 years old with DOCK8 deficiency, LAD-1, and GATA2 Deficiency will receive five days of G- Filgrastim 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.
Details
| Condition | LAD-1, DOCK8, GATA2 Deficancy |
|---|---|
| Clinical Study Identifier | NCT01212055 |
| Sponsor | National Cancer Institute (NCI) |
| Last Modified on | 21 October 2022 |
Eligibility
How to participate?
,
You have contacted , on
Your message has been sent to the study team at ,
What happens next?
- You can expect the study team to contact you via email or phone in the next few days.
- Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.
You are contacting
Primary Contact
Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.
Learn moreIf you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.
Learn moreComplete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.
Learn moreSimilar trials to consider
Not finding what you're looking for?
Sign up as a volunteer to stay informed
Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.
Sign up as volunteer