Actively Recruiting

Phase 2
Age: 4Months - 50Years
All Genders
NCT04232085

Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures

Led by Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins · Updated on 2025-11-28

27

Participants Needed

1

Research Sites

463 weeks

Total Duration

On this page

Sponsors

S

Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins

Lead Sponsor

M

Maryland Stem Cell Research Fund

Collaborating Sponsor

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures

Who Can Participate

Age: 4Months - 50Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Diagnosis of a primary immune deficiency (e.g., CGD, WAS, SCID) or immune dysregulatory syndrome (e.g., IPEX, HLH) requiring transplant
  • Diagnosis of inherited bone marrow failure syndromes (e.g., CAMT, DBA, SDS) or short telomere syndrome
  • Diagnosis of Fanconi anemia or non-Fanconi DNA double-strand break repair disorders
  • Availability of a suitable donor: fully HLA matched sibling or unrelated donor, mismatched unrelated donor with 8 or 9/10 alleles, or haploidentical family member matching at least 5/10 alleles
  • Signed informed consent for bone marrow transplant
  • Adequate organ function: cardiac ejection fraction ≥35%, hepatic bilirubin ≤3.0 mg/dL and liver enzymes <5 times upper limit, renal function with creatinine clearance or GFR >40 mL/min/1.73m2, pulmonary function with FEV1 and FVC ≥50% and DLCO ≥40%, or stable respiratory status with oxygen saturation >90% on ≤2L/min oxygen
  • Karnofsky or Lansky performance status ≥70%
  • Females and males of childbearing potential agree to use two effective contraception methods or abstinence
Not Eligible

You will not qualify if you...

  • Prior allogeneic stem cell transplant
  • Positive leukocytotoxic crossmatch
  • Uncontrolled bacterial, viral, or fungal infection at enrollment
  • Diagnosis of idiopathic aplastic anemia
  • HIV positive status
  • Active Hepatitis B or C infection
  • Pregnancy or breastfeeding
  • Active malignancy or recent concern for relapse
  • Moderate to severe liver fibrosis or cirrhosis in short telomere syndrome or Fanconi anemia cohorts
  • Donors who are not medically, socially, or psychologically fit to donate
  • Use of cord blood as graft source
  • Donors younger than 5 years old
  • Presence of recipient anti-donor HLA antibodies not deemed acceptable by investigators

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Johns Hopkins University

Baltimore, Maryland, United States, 21287

Actively Recruiting

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Research Team

H

Heather J Symons, MD, MHS

CONTACT

M

Megan Petrycki, RN

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NON_RANDOMIZED

Model

PARALLEL

Primary Purpose

TREATMENT

Number of Arms

3

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