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Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

50 Years
Open (Enrolling)
Severe Combined Immunodeficiency, Omenn's Syndrome, Reticular Dysgenesis, Wiskott-Aldrich Syndrome, Bare Lymphocyte Syndrome, MHC Class II Deficiency, Common Variable Immunodeficiency, Chronic Granulomatous Disease, CD40 Ligand Deficiency, Hyper IgM Syndrome, X-linked Lymphoproliferative Disease, Hemophagocytic Lymphohistiocytosis, Combined Immune Deficiencies, Griscelli Syndrome, Chediak-Higashi Syndrome, Langerhan's Cell Histiocytosis

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Trial Information

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

Based on diagnosis and clinical history, a determination of the most appropriate regimen
will be made based on the following prep plans:

Arm A: Fully Myeloablative Preparative Regimen, Arm B: Reduced Toxicity Ablative Preparative
Regimen, Arm C: Reduced Intensity Conditioning, Arm D: No Preparative Regimen

Inclusion Criteria:

- Diagnosis of immunodeficiency or histiocytic disorder including the following:

- Severe combined immunodeficiency (SCID - all variants)

- Second bone marrow transplant (BMT) for SCID (after graft rejection)

- Omenn's Syndrome

- Reticular dysgenesis

- Wiskott-Aldrich syndrome

- Major histocompatibility complex (MHC) Class II deficiency (bare lymphocyte

- Hyper IgM Syndrome (CD40 Ligand Deficiency)

- Common variable immunodeficiency (CVID) with severe phenotype

- Chronic Granulomatous Disease (CGD)

- Other severe Combined Immune Deficiencies (CID)

- Hemophagocytic Lymphohistiocytosis (HLH)

- X-linked Lymphoproliferative Disease (XLP)

- Chediak-Higashi Syndrome (CHS)

- Griscelli Syndrome

- Langerhans Cell Histiocytosis (LCH)

- Acceptable stem cell sources include:

- HLA identical or 1 antigen matched sibling donor eligible to donate bone marrow

- HLA identical or up to a 1 antigen mismatched unrelated BM donor

- Sibling donor cord blood with acceptable HLA match and cell dose as per current
institutional standards

- Single unrelated umbilical cord blood unit with 0-2 antigen mismatch and minimum
cell dose of >5 x 10^7 nucleated cells/kg as per current institutional

- Double unrelated umbilical cord blood units that are:

- up to 2 antigen mismatched to the patient

- up to 2 antigen mismatched to each other

- minimum cell dose of at least one single unit must be ≥ 3.5 x 10^7
nucleated cells/kg

- combined dose of both units must provide a total cell dose of ≥ 5 x 10^7
nucleated cells/kg

- Age: 0 to 50 years

- Performance status: Karnofsky Performance status must be at least 70% for patients >
16 years of age or Lansky Play Score ≥ 70 for patients > 16 years of age

- Consent: able to provide appropriate voluntary written consent

- Organ Function

- Renal: glomerular filtration rate (GFR) ≥ 30% of predicted and serum creatinine
≤ 2 x upper limit of normal for age

- Hepatic: aspartate aminotransferase/alanine aminotransferase (AST or ALT) ≤ 5 x
upper limit of normal (ULN) and bilirubin ≤ 5 x ULN

- Cardiac: cardiac function ≥ 40% normal by echocardiogram

Exclusion Criteria

- pregnant or breastfeeding

- active, uncontrolled infection and/or HIV positive

- acute hepatitis or evidence of moderate or severe portal fibrosis or cirrhosis on

Donor Section Criteria:

- in general good health, in the opinion of the evaluating health care professional

- adequate partial prothrombin time (PTT), hemoglobin, white blood cell, and platelet

- for females of child bearing potential not pregnant or breastfeeding (must have a
negative pregnancy test within 7 days of donation)

- no active infection

- voluntary written consent

In the case where more than one donor meets the eligibility criteria, donor selection will
be guided by the following considerations:

- Class I HLA Antigens: It will always be preferable to have a donor that is an allele
match at HLA-A, -B and -C. However, acceptable donors may have up to two Class I
allele mismatches (A, B or C), or a single HLA-A, -B, or -C allele and/or antigen
mismatch, although in either situation the class II HLA-DR must be allele matched.

- Class II HLA Antigen (HLA-DR): The preferred donor will be a full HLA-DR allele
match. However, a single allele DR mismatch donor will be acceptable provided the
donor is a full allele match at HLA-A, -B, and -C. Class II antigen mismatched
donors are not acceptable.

- HLA A, B, DRB1 identical sibling donor is preferable to an unrelated donor

- Homozygous normal donor is preferable to heterozygote (carrier)

- ABO-compatible donor is preferable to ABO-incompatible donor

- Younger donor is preferable to older

- Cytomegalovirus seronegative donor is preferable to cytomegalovirus (CMV)
seropositive donor, if the patient is CMV negative

Type of Study:


Study Design:

Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Outcome Measure:

Neutrophil Engraftment

Outcome Description:

Neutrophil engraftment is defined as the first day of three consecutive days where the neutrophil count (absolute neutrophil count) is 500 cells/mm3 (0.5 x 109/L) or greater.

Outcome Time Frame:

Day 42

Safety Issue:


Principal Investigator

Angela R. Smith, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

Masonic Cancer Center, University of Minnesota


United States: Institutional Review Board

Study ID:




Start Date:

September 2012

Completion Date:

December 2015

Related Keywords:

  • Severe Combined Immunodeficiency
  • Omenn's Syndrome
  • Reticular Dysgenesis
  • Wiskott-Aldrich Syndrome
  • Bare Lymphocyte Syndrome
  • MHC Class II Deficiency
  • Common Variable Immunodeficiency
  • Chronic Granulomatous Disease
  • CD40 Ligand Deficiency
  • Hyper IgM Syndrome
  • X-linked Lymphoproliferative Disease
  • Hemophagocytic Lymphohistiocytosis
  • Combined Immune Deficiencies
  • Griscelli Syndrome
  • Chediak-Higashi Syndrome
  • Langerhan's Cell Histiocytosis
  • immunodeficiency disorder
  • histiocytic disorder
  • Congenital Abnormalities
  • Chediak-Higashi Syndrome
  • Common Variable Immunodeficiency
  • Granulomatous Disease, Chronic
  • Histiocytosis
  • Histiocytosis, Langerhans-Cell
  • Immunologic Deficiency Syndromes
  • Lymphohistiocytosis, Hemophagocytic
  • Lymphoproliferative Disorders
  • Wiskott-Aldrich Syndrome
  • Severe Combined Immunodeficiency
  • Leukopenia
  • Hyper-IgM Immunodeficiency Syndrome
  • Hyper-IgM Immunodeficiency Syndrome, Type 1
  • Granuloma



Masonic Cancer Center, University of MinnesotaMinneapolis, Minnesota  55455