Collecting blood stem cells from patients with immunodeficiency
Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency
This study is trying to collect blood stem cells from young adults with certain immunodeficiency diseases to see if using their own modified cells can help improve gene therapy treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 7 (estimated) |
| Ages | 18 Years to 40 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT01212055 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect peripheral blood stem cells from individuals aged 18 to 40 with specific immunodeficiency diseases, namely DOCK8 deficiency, LAD-1, and GATA2 deficiency. Participants will receive a five-day treatment with filgrastim to mobilize stem cells, followed by a single apheresis procedure to collect these cells for laboratory research. The goal is to explore potential gene therapy treatments using the patients' own modified blood cells, which could help overcome challenges associated with traditional bone marrow transplants.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 18-40 diagnosed with DOCK8 deficiency, LAD-1, or GATA2 deficiency.
Not a fit: Patients with HIV or chronic hepatitis infections will not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could lead to innovative gene therapies that improve the treatment of immunodeficiency diseases.
How similar studies have performed: While gene therapy approaches are being explored in similar contexts, this specific method of using autologous stem cells for these immunodeficiencies is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
-INCLUSION CRITERIA - PATIENT:
1. Individuals age 18-40 years.
2. 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
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.
EXCLUSION CRITERIA- PATIENT:
1. HIV infection.
2. Chronic hepatitis B or hepatitis C virus infection.
3. History of psychiatric disorder which may compromise compliance with protocol, or which does not allow for appropriate informed consent.
4. Active infection that is not responding to antimicrobial therapy.
5. Pregnant Individuals may not participate per OHSRP SOP.
6. Any Individual who is breastfeeding as the effects of filgrastim or filgrastim biosimilar product on infants is not known.
7. 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.
8. Presence of active malignancy in another organ system other than the hematopoietic system.
9. Individuals with active pulmonary disease.
10. 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.
11. Other medical contraindications to stem cell donation (i.e., severe atherosclerosis, autoimmune disease, iritis or episcleritis, deep venous thrombosis, cerebrovascular accident).
12. Thrombocytopenia (platelets less than 50,000 per microliter) at baseline evaluation.
13. Individuals receiving experimental therapy or investigational agents.
14. Sensitivity to filgrastim, to E. Coli derived products, or to a biosimilar recombinant protein to filgrastim.
15. Individuals must test negative for transfusion-transmissible infectious agents, including hepatitis B (HBsAg), hepatitis C (anti-HCV), HIV (anti-HIV-1/2).
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Corina E Gonzalez, M.D. — National Cancer Institute (NCI)
- Study coordinator: Corina E Gonzalez, M.D.
- Email: corina.gonzalez@nih.gov
- Phone: (202) 506-0656
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.