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Apheresis for Immunodeficiency Research (LAD-1, DOCK8, GATA2 Deficiency)

This observational study aims to collect blood stem cells from individuals with certain immune system disorders (LAD-1, DOCK8, or GATA2 Deficiency). Researchers want to test if they can fix the problems with these cells in a lab setting, which could lead to new gene therapy treatments. Gene therapy uses your own modified cells to treat disease, avoiding issues with donor transplants. To join, you must be between 18 and 40 years old and have a confirmed diagnosis of one of these conditions, with specific genetic or cell markers. The main goal is to see if they can successfully collect these stem cells within 5 days for further research.

Study design
This is an observational study involving a planned enrollment of 7 participants. It is designed to provide a source of mobilized peripheral blood CD34+ hematopoietic stem cells for laboratory research.
What's involved
You would receive filgrastim or a filgrastim biosimilar for five days. This would be followed by a single apheresis procedure to collect blood stem cells.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, which is the ability to correct cell defects in a test tube, is measured at 5 days. No further follow-up for participants is specified.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01212055

Apheresis of Patients With Immunodeficiency

Recruiting
Not specifiedAges 18–40Observational
National Cancer Institute (NCI)
~7 participants
Updated 2026-08-24 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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.
Measured over 5 days

Conditions

LAD-1
DOCK8
GATA2 Deficancy

Explore related trials

DOCK8 DeficiencyGATA2 DeficiencyImmunodeficiencyLeukocyte Adhesion Deficiency Type 1DOCK8 GeneGATA2 GeneITGB2 wt Allele

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Corina E Gonzalez, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

Corina E Gonzalez, M.D.
[email protected]
(202) 506-0656
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Eligibility criteria

Inclusion

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 3. Serum creatinine \<1.5 mg/dL. 4. Total Bilirubin \< 3mg/dl, ALT and AST \< 5X upper limit of normal. 5. Ability to give informed consent. 6. Adequate venous access for peripheral apheresis, or consent to use a temporary central venous catheter for apheresis. 7. Individuals of childbearing age must have a negative urine pregnancy test within one week prior to beginning filgrastim or filgrastim biosimilar administration.

What this trial measures

  • 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.