NCT01212055 · National Cancer Institute (NCI)
Apheresis of Patients With Immunodeficiency
What this study is about
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.
View original scientific description
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- Individuals age 18-40 years.
- Diagnosis of DOCK8 deficiency, LAD-1, or GATA2 Deficiency: -DOCK8 deficiency
- Homozygous or compound heterozygous mutations in the DOCK8 gene. -LAD-1
- Less than 10% CD18 expression on the neutrophil surface. -GATA2 Deficiency
- Deleterious mutation of GATA2 Gene
- Serum creatinine \<1.5 mg/dL.
- Total Bilirubin \< 3mg/dl, ALT and AST \< 5X upper limit of normal.
- Ability to give informed consent.
- Adequate venous access for peripheral apheresis, or consent to use a temporary central venous catheter for apheresis.
- Individuals of childbearing age must have a negative urine pregnancy test within one week prior to beginning filgrastim or filgrastim biosimilar administration.
Exclusion criteria
- HIV infection.
- Chronic hepatitis B or hepatitis C virus infection.
- History of psychiatric disorder which may compromise compliance with protocol, or which does not allow for appropriate informed consent.
- Active infection that is not responding to antimicrobial therapy.
- Pregnant Individuals may not participate per OHSRP SOP.
- Any Individual who is breastfeeding as the effects of filgrastim or filgrastim biosimilar product on infants is not known.
- Sexually active individuals capable of becoming pregnant who are unable or unwilling to use effective form(s) of contraception during the 10 days surrounding filgrastim or filgrastim biosimilar product administration and apheresis procedure(s). Effective forms of contraception include one or more of the following: intrauterine device (IUD), hormonal (birth control pills, injections, or implants), tubal ligation/hysterectomy, partner s vasectomy, barrier methods, (condom, diaphragm, or cervical cap), or abstinence. Males on the protocol must use an effective form of contraception at study entry.
- Presence of active malignancy in another organ system other than the hematopoietic system.
- Individuals with active pulmonary disease.
- History of hypertension that is not controlled by medication, stroke, or severe heart disease. Individuals with symptomatic angina will be considered to have severe heart disease and will not be eligible.
- Other medical contraindications to stem cell donation (i.e., severe atherosclerosis, autoimmune disease, iritis or episcleritis, deep venous thrombosis, cerebrovascular accident).
- Thrombocytopenia (platelets less than 50,000 per microliter) at baseline evaluation.
- Individuals receiving experimental therapy or investigational agents.
- Sensitivity to filgrastim, to E. Coli derived products, or to a biosimilar recombinant protein to filgrastim.
- Individuals must test negative for transfusion-transmissible infectious agents, including hepatitis B (HBsAg), hepatitis C (anti-HCV), HIV (anti-HIV-1/2).
Where
- Bethesda, Maryland
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 8, 2026 · Source of record for eligibility and locations