LAD-1NCT01212055
Apheresis of Patients With Immunodeficiency
An observational study of LAD-1 and DOCK8, run by National Cancer Institute (NCI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 40 years
- Conditions the study is for
- LAD-1, DOCK8, GATA2 Deficancy
- How many people
- 7 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Nov 2010to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 40 years
- All sexes
- No healthy volunteers
- Adult
Study population: Patients with DOCK8 deficiency, LAD-1, and GATA2 Deficiency who are between 18 and 40 years of age meeting the eligibility criteria will be considered for the protocol.
Who may be able to join
None listed.
Who cannot join
- 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.
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- 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).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Corina Gonzalez, M.D., 202-506-0656, corina.gonzalez@nih.gov
About this study
Official title: Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency
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.
Read more
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.
Read the 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.
- Conditions
- LAD-1, DOCK8, GATA2 Deficancy
- Keywords
- PBSC Collection, Immunodeficiency, Spectra Apheresis System, Stem Cell Mobilization, Leukapheresis, Natural History
- Medical subject headings
- Immunologic Deficiency Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Patients with DOCK8 deficiency, LAD-1, or GATA2 Deficiency |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
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.
Measured: 5 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Sep 2010 (estimated)
- Study start8 Nov 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for LAD-1Studies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 7 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Corina E Gonzalez, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01212055
- Sponsor's protocol ID
- 100201
- Other IDs
- 10-C-0201
- Status last verified
- 20 Aug 2026
- First submitted
- 29 Sep 2010
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Anderlini P, Korbling M, Dale D, Gratwohl A, Schmitz N, Stroncek D, Howe C, Leitman S, Horowitz M, Gluckman E, Rowley S, Przepiorka D, Champlin R. Allogeneic blood stem cell transplantation: considerations for donors. Blood. 1997 Aug 1;90(3):903-8.
PubMed 9242518Bauer TR Jr, Hai M, Tuschong LM, Burkholder TH, Gu YC, Sokolic RA, Ferguson C, Dunbar CE, Hickstein DD. Correction of the disease phenotype in canine leukocyte adhesion deficiency using ex vivo hematopoietic stem cell gene therapy. Blood. 2006 Nov 15;108(10):3313-20. doi: 10.1182/blood-2006-03-006908. Epub 2006 Jul 25.
PubMed 16868255Creevy KE, Bauer TR Jr, Tuschong LM, Embree LJ, Silverstone AM, Bacher JD, Romines C, Garnier J, Thomas ML 3rd, Colenda L, Hickstein DD. Mixed chimeric hematopoietic stem cell transplant reverses the disease phenotype in canine leukocyte adhesion deficiency. Vet Immunol Immunopathol. 2003 Oct 15;95(3-4):113-21. doi: 10.1016/s0165-2427(03)00108-9.
PubMed 12963272Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, Arthur DC, Raffeld M, Dutra A, Pak E, Myung K, Hsu AP, Hickstein DD, Pittaluga S, Holland SM. Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica. 2011 Aug;96(8):1221-5. doi: 10.3324/haematol.2011.041152. Epub 2011 Apr 20.
PubMed 21508125
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency
- ClinicalTrials.gov ID
- NCT01212055
- Acronym / sponsor ID
- 100201
- Conditions
- LAD-1, DOCK8, GATA2 Deficancy
- Keywords
- PBSC Collection, Immunodeficiency, Spectra Apheresis System, Stem Cell Mobilization, Leukapheresis, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 7 participants (estimated)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 8 Nov 2010 (actual)
- First posted
- 30 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | –Patients with DOCK8 deficiency, LAD-1, or GATA2 Deficiency |
Who may qualify
- Ages
- 18 to 40 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Patients with DOCK8 deficiency, LAD-1, and GATA2 Deficiency who are between 18 and 40 years of age meeting the eligibility criteria will be considered for the protocol.
Key inclusion criteria (0 listed)
Key exclusion criteria (15 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Time frame: 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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Background: PubMed 9242518Anderlini P, Korbling M, Dale D, Gratwohl A, Schmitz N, Stroncek D, Howe C, Leitman S, Horowitz M, Gluckman E, Rowley S, Przepiorka D, Champlin R. Allogeneic blood stem cell transplantation: considerations for donors. Blood. 1997 Aug 1;90(3):903-8.
- Background: PubMed 16868255Bauer TR Jr, Hai M, Tuschong LM, Burkholder TH, Gu YC, Sokolic RA, Ferguson C, Dunbar CE, Hickstein DD. Correction of the disease phenotype in canine leukocyte adhesion deficiency using ex vivo hematopoietic stem cell gene therapy. Blood. 2006 Nov 15;108(10):3313-20. doi: 10.1182/blood-2006-03-006908. Epub 2006 Jul 25.
- Background: PubMed 12963272Creevy KE, Bauer TR Jr, Tuschong LM, Embree LJ, Silverstone AM, Bacher JD, Romines C, Garnier J, Thomas ML 3rd, Colenda L, Hickstein DD. Mixed chimeric hematopoietic stem cell transplant reverses the disease phenotype in canine leukocyte adhesion deficiency. Vet Immunol Immunopathol. 2003 Oct 15;95(3-4):113-21. doi: 10.1016/s0165-2427(03)00108-9.
- Derived from this study: PubMed 21508125Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, Arthur DC, Raffeld M, Dutra A, Pak E, Myung K, Hsu AP, Hickstein DD, Pittaluga S, Holland SM. Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica. 2011 Aug;96(8):1221-5. doi: 10.3324/haematol.2011.041152. Epub 2011 Apr 20.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Corina E Gonzalez, M.D. principal investigator
National Cancer Institute (NCI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of LAD-1 and DOCK8, run by National Cancer Institute (NCI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 15 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Corina E Gonzalez, M.D. ((202) 506-0656, corina.gonzalez@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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. (time frame: 5 days). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01212055, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.