New York, New York 10032

  • Severe Combined Immunodeficiency


Reduced intensity conditioning followed by allogeneic stem cell transplantation will result in mixed/complete donor chimerism and potentially alter the natural history and outcome of patients with non-malignant diseases.

Study summary:

This study is to determine the toxicity of administering a fludarabine/cyclophosphamide (Flu/CY) or busulfan (Bu)/Flu based conditioning regimen followed by allogeneic stem cell transplant (AlloSCT) in patients with non-malignant diseases.


Inclusion Criteria - Patients must meet the eligibility criteria for organ function regardless of diagnosis: - Age < 30 or = 30 years of age - Adequate renal function defined as serum creatinine < or = 1.5 x normal, or creatinine clearance or radioisotope GFR > or =40 ml/min/m2 or >60 ml/min/1.73 m2 or an equivalent GFR as determined by the institutional normal range - Adequate liver function defined as SGOT (AST) or SGPT (ALT) < 5.0 x normal - Adequate cardiac function defined as shortening fraction of > or = 28% by echocardiogram, or ejection fraction of > or = 48% by radionuclide angiogram or echocardiogram - Adequate pulmonary function defined as asymptomatic or, if symptomatic, DLCO >45% of predicted (corrected for hemoglobin level). If unable to obtain pulmonary function test, O2 saturation >85% in room air. Bone Marrow Failure Syndromes Patients with the following diagnoses are eligible: Severe Aplastic Anemia: - Hypocellular bone marrow biopsy (<25% cellularity) and 2/3 of the following (at diagnosis or nadir): - Absolute Neutrophil Count (ANC) <200/mm3, - Platelets <20,000/mm3 - Reticulocyte count <60,000/mm3 Fanconi Anemia: - Abnormal clastogenic studies (all patients) - Severe Congenital Neutropenia (Kostmann's Syndrome) - Amegakaryocytic Thrombocytopenia - Severe thrombocytopenia (< or =20,000/mm3) at diagnosis - Severe depletion of megakaryocytes on bone marrow aspirate (< or =25% normal) Diamond-Blackfan Anemia: - Corticosteroid dependent for > 6 months OR Transfusion dependent OR refractory acquired pure red cell aplasia. - Infantile Osteopetrosis - Schwachman-Diamond Syndrome - Dyskeratosis Congenita Other bone marrow failure syndromes at discretion of co-principal investigators - Immunodeficiencies - SCIDS, all subtypes - Combined Immunodeficiency Syndrome - Wiskott-Aldrich Syndrome - Chronic Granulomatous Disease - Chediak-Higashi Syndrome - Leukocyte Adhesion Deficiency - Other immunodeficiencies at discretion of co-principal investigators - Inborn Errors of Metabolism (IEOM) Transplant is recommended for the following disorders: - Hurler syndrome (alpha-L-iduronidase deficiency, MPS-I), preferably before age 24 months - Maroteaux-Lamy syndrome (galactosamine-4-sulfatase deficiency,MPSVI) - Sly syndrome (beta-glucuronidase deficiency, MPS-VII) - Globoid cell leukodystrophy (galactocerebrosidase deficiency), with careful attention to neurologic status in the infantile form - Metachromatic leukodystrophy (arylsulfatase A deficiency),juvenile or adult onset form; late infantile MLD only if pre-symptomatic - Childhood-onset X-linked adrenoleukodystrophy (X-ALD), at initial signs of neuropsychological deterioration, with dietary modification prior to transplant - Fucosidosis (fucosidase deficiency) - Mannosidosis - Aspartylglucosaminuria - Niemann-Pick Disease Type B (acid sphingomyelinase deficiency) Other diagnoses may be considered at the discretion of the co-principal investigators - For X-ALD patients greater than 5 years of age, IQ >80 is required. For other patients greater than 5 years of age, IQ > 70 is required. - For Gaucher disease (glucocerebrosidase deficiency) Type I (non-neuropathic), the primary therapy is enzyme replacement, but allogeneic stem cell transplant has been used effectively. - Histiocytoses - Hemophagocytic Lymphohistiocytosis (HLH) - Familial Erythrophagocytic Lymphohistiocytosis - Langerhans Cell Histiocytosis Patients with multi-system disease whose initial disease is stable or progressive after minimum 6 weeks of appropriate therapy, OR Patients with recurrent multi-system disease. - Malignant Histiocytosis - Other non-malignant diseases not listed above may be eligible if deemed appropriate by the co-principal investigators.



Primary Contact:

Principal Investigator
James Garvin, MD. PhD
Columbia University

James Garvin, MD, PhD
Phone: 212 305 5872

Backup Contact:

William A Kim, Ph.D.
Phone: 212-305-7213

Location Contact:

New York, New York 10032
United States

James Garvin, MD, PhD
Phone: 212-305-5872

Site Status: Recruiting

Data Source:

Date Processed: December 08, 2022

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