Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inhe… (NCT04232085) | Clinical Trial Compass
RecruitingPhase 2
Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
United States27 participantsStarted 2020-02-12
Plain-language summary
Phase II prospective trial to assess the rates of donor engraftment using reduced intensity conditioning (RIC) hematopoietic stem cell transplant (HSCT) and post-transplant cyclophosphamide (PTCy) for patients with primary immune deficiencies (PID), immune dysregulatory syndromes (IDS), inherited bone marrow failure syndromes (IBMFS), short telomere syndromes, Fanconi anemia, and non-Fanconi DNA double-strand break (DNA-dsb) repair disorder.
Who can participate
Age range
4 Months – 50 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria
Cohort A:
Primary Immune Deficiencies with indication for HCT:
* Chronic granulomatous disease (CGD)
* Wiskott-Aldrich syndrome (WAS)
* Hyper-IgM syndrome
* Common variable immunodeficiency (CVID)
* Leukocyte adhesion deficiency-1 (LAD-1)
* Severe Combined Immunodeficiency (SCID)
* CTLA-4 deficiency
* CARD9 deficiency
* DOCK8 deficiency
Immune Dysregulatory Syndromes:
* Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome
* Hemophagocytic lymphohistiocytosis (HLH) or related disorder with indication for transplant
* CAEBV: Patients with chronic EBV infection (CAEBV) with indication for BMT:
Inherited Bone marrow failure disorders
* Congenital amegakaryocytic thrombocytopenia (CAMT)
* Diamond Blackfan anemia (DBA)
* Shwachman Diamond Syndrome (SDS)
* Thrombocytopenia Absent Radii (TAR)
* Glanzmans thrombasthenia (GT)
* Kostmann syndrome
* Other indications and/or other PID, IDS, and IBMFS diagnoses as deemed appropriate by the PI.
Cohort B: Short telomere syndrome
Cohort C: Confirmed diagnosis of Fanconi anemia or non-Fanconi DNA-dsb repair disorders
* Fanconi anemia
* Non-Fanconi DNA-dsb repair disorders
* Cerunnos-XRCC4-like factor deficiency (XLF or NHEJ1)
* DNA ligase IV deficiency (LIG4)
* Nijmegen breakage syndrome (NBS)
* Increased DNA breakage after exposure of patient cells to DNA cross-linking agents such as diepoxybutane or mitomycin C and germline mutation(s) in an identified Fanconi pathway gene.
Available donor…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Donor Engraftment
Timeframe: 60 Days
Trial details
NCT IDNCT04232085
SponsorSidney Kimmel Comprehensive Cancer Center at Johns Hopkins