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Chemotherapy

Stem Cell Transplant for Job Syndrome

Phase 2
Recruiting
Led By Nirali N Shah, M.D.
Research Sponsored by National Cancer Institute (NCI)
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Available 10/10 or 9/10 HLA-matched related or unrelated donor or a haploidentical related donor.
Creatinine: Subjects: less than or equal to 2.0 mg/dl or creatinine clearance greater than or equal to 30 ml/min/1.73 m^2. Pediatric subjects (<18 years old): Creatinine less than or equal to 1.5 mg/dl or a creatinine clearance of greater than or equal to 30 mL/min/1.73 m^2.
Must not have
Sexually active individuals capable of becoming pregnant who are unable or unwilling to use effective form(s) of contraception during time enrolled on study and for 1 year post-transplant. 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, and for one year post-transplant. The effects of transplant, the radiation, and the medications used after transplant may be harmful to a fetus.
No available 10/10 or 9/10 HLA-matched related or unrelated donor or haploidentical related donor.
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 1 year post transplant
Awards & highlights
No Placebo-Only Group

Summary

This trial is evaluating the efficacy and safety of transplant from different donor sources for DOCK8 deficiency.

Who is the study for?
This trial is for individuals aged 4-35 with confirmed DOCK8 deficiency, who've had life-threatening infections or viral-related cancers and have a suitable stem cell donor. Donors must be healthy, matched to the recipient, and aged 2-60. Participants need functioning hearts (with specific ejection fraction criteria), adequate kidney function, normal liver tests, and must not be pregnant or breastfeeding.
What is being tested?
The study tests whether bone marrow cells from different donors can treat DOCK8 deficiency. Recipients will undergo chemotherapy with busulfan and fludarabine (or cyclophosphamide added for certain matches) plus radiation in some cases to prepare for transplant. Post-transplant care includes more chemo and drugs to prevent graft versus host disease.
What are the potential side effects?
Potential side effects include reactions to chemotherapy such as nausea, fatigue, hair loss; risks from radiation like skin irritation; complications from stem cell infusion; immune system suppression leading to infection risk; graft versus host disease where donor cells attack the patient's body.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I have a donor who is a perfect or near-perfect match, or a half-matched related donor.
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My kidney function, measured by creatinine levels, is within the required range.
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I am between 4 and 35 years old.
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I (or my caregiver) can communicate in English or Spanish.
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I have had severe infections due to weak immunity.
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I have specific genetic mutations in the DOCK8 gene.
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I am over 18 and had a transplant for DOCK8 deficiency.
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I weigh at least 12 kilograms.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:
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I am using effective birth control or abstaining from sex for 1 year post-transplant.
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I don't have a closely matched donor for a transplant.
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I am HIV positive.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~1 year post transplant
This trial's timeline: 3 weeks for screening, Varies for treatment, and 1 year post transplant for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.
Primary study objectives
Feasibility
Secondary study objectives
Safety
Toxicity

Awards & Highlights

No Placebo-Only Group
All patients enrolled in this study will receive some form of active treatment.

Trial Design

5Treatment groups
Experimental Treatment
Active Control
Group I: Group DExperimental Treatment1 Intervention
Family Interview (closed)Participation in research interview
Group II: Group CExperimental Treatment3 Interventions
Donor (closed)
Group III: Group AActive Control3 Interventions
10/10 HLA Matched Related or Unrelated Donor Transplant
Group IV: Group BActive Control5 Interventions
9/10 HLA Matched Related or Unrelated Donor Transplant
Group V: Group EActive Control1 Intervention
Patient and caregiver psychosocial and QOL assessments during HSCTParticipation in interview and questionnaires

Find a Location

Who is running the clinical trial?

National Cancer Institute (NCI)Lead Sponsor
13,958 Previous Clinical Trials
41,112,472 Total Patients Enrolled
1 Trials studying Dock 8 Deficiency
272 Patients Enrolled for Dock 8 Deficiency
Nirali N Shah, M.D.Principal InvestigatorNational Cancer Institute (NCI)
13 Previous Clinical Trials
2,459 Total Patients Enrolled
Corina E Gonzalez, M.D.Principal InvestigatorNational Cancer Institute (NCI)

Media Library

Busulfan (Busulfex) (Chemotherapy) Clinical Trial Eligibility Overview. Trial Name: NCT01176006 — Phase 2
Dock 8 Deficiency Research Study Groups: Group A, Group B, Group C, Group D, Group E
Dock 8 Deficiency Clinical Trial 2023: Busulfan (Busulfex) Highlights & Side Effects. Trial Name: NCT01176006 — Phase 2
Busulfan (Busulfex) (Chemotherapy) 2023 Treatment Timeline for Medical Study. Trial Name: NCT01176006 — Phase 2
~7 spots leftby Dec 2025
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