Early Diagnosis and Stem Cell Transplantation for Severe Immunodeficiency Diseases

Study Overview
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Brief Summary
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The hypothesis of this study is that children with severe primary immunodeficiencies will benefit from early stem cell transplantation utilizing a reduced intensity conditioning regimen. This regimen is associated with a low risk of complications and will lead to correction of the underlying immunological defects.

Official Title
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Early Diagnosis and Stem Cell Transplantation for Severe Immunodeficiency Diseases

Conditions
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Severe Immunodeficiency Diseases

Intervention / Treatment
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* Drug: Fludarabine, Busulfan, and Anti-Thymocyte Globulin


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Must show one of the following diseases: SCIDS Hyper-IgM Wiskott-Aldrich Syndrome Chediak-Higashi and Griscelli Syndromes X-Linked Lymphoproliferative Diseases IPEX Syndrome NEMO Syndrome other severe immunodeficiency diseases not stated above at the discretion of the Principal Investigator Informed Consent Adequate Renal Function Adequate Liver Function Adequate Cardiac Function Adequate Pulmonary Function Adequate Performance Statue Adequate Venous Access Exclusion Criteria: Patient/Family has not signed informed consent Patient does not have a clear diagnosis of a severe immunodeficiency disease A suitable donor for the patient cannot be found Patient is HIV positive Patient has active Hepatitis B Patient is pregnant Patient is considered unsuitable for transplant at the discretion of the Principal Investigators or the medical director

Ages Eligible for Study
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Maximum Age: 11 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Intervention/Treatment |
| --- |
|Drug: Fludarabine, Busulfan, and Anti-Thymocyte Globulin|Patients on this study will receive 5 days of Fludarabine, 1 day of Busulfan Test Dose, 2 Days of Busulfan Regimen Dose, and 4 days of Anti-Thymocyte Globulin|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To evaluate the efficacy of an optimized reduced intensity conditioning regimen using Fludarabine, Busulfan, and Anti-Thymocyte Globulin in preparing severe immunodeficiency patients for allogeneic hematopoietic progenitor cell transplantation |  | 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To prospectively follow the natural course of severe immunodeficiency diseases after transplantation |  | 5 years | 
| To measure the outcomes after stem cell transplantation using the reduced intensity transplant regimen. |  | 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Patients with the Severe Immunodeficiency diseases, Severe Immunodeficiency diseases