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 to 55 Years


Phase 2

Study type










1. 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.

2. Adequate organ function as measured by:

1. Creatinine ≤ 2.0 mg/dL and creatinine clearance ≥ 50 mL/min/1.73 m2.

2. Hepatic transaminases (ALT/AST) ≤ 4 x upper limit of normal (ULN).

3. Adequate cardiac function by echocardiogram or radionuclide scan (shortening
fraction > 26% or ejection fraction > 40% or > 80% of normal value for age).

4. 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.

3. Written informed consent and/or assent according to FDA guidelines.

4. Negative pregnancy test if pubertal and/or menstruating.

5. HIV negative.

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

1. 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

2. Congenital bone marrow failure syndromes including but not limited to:

– Dyskeratosis Congenita (DC)

– Congenital Amegakaryocytic Thrombocytopenia (CAMT)

– Osteopetrosis

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

– Mucopolysaccharidoses

– Hurler syndrome (MPS I)

– Hunter syndrome (MPS II)

– Leukodystrophies

– 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.

4. 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

– Priapism

– Diamond Blackfan Anemia (DBA)

– Other congenital transfusion dependent anemias

5. Inflammatory Conditions

– Crohn’s Disease/Inflammatory Bowel Disease


1. Allogeneic hematopoietic stem cell transplant within the previous 6 months.

2. Any active malignancy or MDS.

3. Severe acquired aplastic anemia.

4. Uncontrolled bacterial, viral or fungal infection (currently taking medication and
with progression of clinical symptoms).

5. Pregnancy or nursing mother.

6. Poorly controlled pulmonary hypertension.

7. Any condition that precludes serial follow-up.


  • Pittsburgh, Pennsylvania, United States, UPMC Children's Hospital of Pittsburgh, 15224 [Recruiting]
Last updated 2021-05-03