A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation

About the study

The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). After transplant, subjects will be followed for late effects and for ongoing graft success.

Study point of contact

Shawna McIntyre, RN
Paul Szabolcs, MD


1 United States site


2 Months - 55 Years


Phase 2

Study type








A 4/6, 5/6 or 6/6 HLA matched related or unrelated UCB unit available that will deliver a pre-cryopreservation total nucleated cell dose of ≥ 3 x 10e7 cells/kg, or double unit grafts, each cord blood unit delivering at least 2 x 10e7 cells/kg OR an 8 of 8 or 7 of 8 HLA allele level matched unrelated donor bone marrow or peripheral blood progenitor graft.

Adequate organ function as measured by:

Creatinine ≤ 2.0 mg/dL and creatinine clearance ≥ 50 mL/min/1.73 m2.
Hepatic transaminases (ALT/AST) ≤ 4 x upper limit of normal (ULN).
Adequate cardiac function by echocardiogram or radionuclide scan (shortening fraction > 26% or ejection fraction > 40% or > 80% of normal value for age).
Pulmonary evaluation testing demonstrating CVC or FEV1/FVC of ≥ 50% of predicted for age and/or resting pulse oximeter ≥ 92% on room air or clearance by the pediatric or adult pulmonologist. For adult patients DLCO (corrected for hemoglobin) should be ≥ 50% of predicted if the DLCO can be obtained.
Written informed consent and/or assent according to FDA guidelines.
Negative pregnancy test if pubertal and/or menstruating.
HIV negative.

A non-malignant disorder amenable to treatment by stem cell transplantation, including but not limited to:

Primary Immunodeficiency syndromes including but not limited to:

Severe Combined Immune Deficiency (SCID) with NK cell activity
Omenn Syndrome
Bare Lymphocyte Syndrome (BLS)
Combined Immune Deficiency (CID) syndromes
Combined Variable Immune Deficiency (CVID) syndrome
Wiskott-Aldrich Syndrome
Leukocyte adhesion deficiency
Chronic granulomatous disease (CGD)
X-linked Hyper IgM (XHIM) syndrome
IPEX syndrome
Chediak – Higashi Syndrome
Autoimmune Lymphoproliferative Syndrome (ALPS)
Hemophagocytic Lymphohistiocytosis (HLH) syndromes
Lymphocyte Signaling defects
Other primary immune defects where hematopoietic stem cell transplantation may be beneficial

Congenital bone marrow failure syndromes including but not limited to:

Dyskeratosis Congenita (DC)
Congenital Amegakaryocytic Thrombocytopenia (CAMT)

Inherited Metabolic Disorders (IMD) including but not limited to:


Hurler syndrome (MPS I)
Hunter syndrome (MPS II)


Krabbe Disease, also known as globoid cell leukodystrophy
Metachromatic leukodystrophy (MLD)
X-linked adrenoleukodystrophy (ALD)
Hereditary diffuse leukoencephalopathy with spheroids (HDLS)

Other inherited metabolic disorders

alpha mannosidosis
Gaucher Disease
Other inheritable metabolic diseases where hematopoietic stem cell transplantation may be beneficial.

Hereditary anemias

Thalassemia major

Sickle cell disease (SCD) – patients with sickle disease must have one or more of the following:

Overt or silent stroke
Pain crises ≥ 2 episodes per year for past year
One or more episodes of acute chest syndrome
Osteonecrosis involving ≥ 1 joints
Diamond Blackfan Anemia (DBA)
Other congenital transfusion dependent anemias

Inflammatory Conditions

Crohn’s Disease/Inflammatory Bowel Disease


Allogeneic hematopoietic stem cell transplant within the previous 6 months.
Any active malignancy or MDS.
Severe acquired aplastic anemia.
Uncontrolled bacterial, viral or fungal infection (currently taking medication and with progression of clinical symptoms).
Pregnancy or nursing mother.
Poorly controlled pulmonary hypertension.
Any condition that precludes serial follow-up.


  • Pittsburgh, Pennsylvania, United States, UPMC Children's Hospital of Pittsburgh, 15224 [Recruiting]
Last updated 2022-12-07