Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 Deficiency
Status:
Recruiting
Trial end date:
2023-12-31
Target enrollment:
Participant gender:
Summary
Background:
-DOCK8 deficiency is a genetic disorder that affects the immune system and can lead to severe
recurrent infections and possible death from infections or certain types of cancers,
including blood cancers. A stem cell transplant is a life-saving treatment for this
condition. In this study we are evaluating the efficacy and safety of transplant from
different donor sources for DOCK8 deficiency. The donors that we are using are matched
siblings, matched unrelated donors, and half-matched donors, so called haploidentical related
donors, such as mothers or fathers or half-matched siblings.
Objectives:
-To determine whether transplant of bone marrow cells from different types of donors corrects
DOCK8 deficiency.
Eligibility:
- Donors: Healthy individuals between 2 and 60 years of age who are matched with a
recipient.
- Recipient: Individuals between 5 and 35 years of age who have confirmed DOCK8
deficiency, have suffered at least one life-threatening infections, or have had certain
viral related cancers of cancer and have a stem cell donor.
Design:
- All participants will be screened with bloodwork, a physical examination and medical
history.
- DONORS:
--Donors who have donate bone marrow cells or blood stem cells will have a sample of
blood/bone marrow stored to be compared with the recipients sample after transplant.
- RECIPIENTS:
- Recipients receiving 10/10 matched related or unrelated donors will receive 4 days
of chemotherapy with busulfan and fludarabine to suppress their immune system and
prepare them for the transplant. Donors receiving 9/10 matched related or unrelated
donors as well as haploidentical related donors will receive 5 days chemotherapy
with cyclophosphamide, fludarabine, and busulfan. They will also receive one dose
of radiation to suppress their immune system and prepare them for the transplant.
- After the initial chemotherapy and radiation (if indicated), recipients will
receive the donated stem cells as a single infusion.
- After the stem cell transplant, recipients will receive two days of a chemotherapy
called cyclophosphamide on day's + 3 and + 4 followed by two drugs tacrolimus and
mycophenolate to prevent graft versus host disease where the donor cells attack the
patient's body. All patients will remain in the hospital for at least approximately
1 month, and will be followed with regular visits for up to 3 years with periodic
visits thereafter to evaluate the success of the transplant and any side effects.