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This study is being done to help researchers better understand the causes, progression and best treatments for people with a primary immune deficiency, a rare inherited condition characterized by defects in the genes that normally instruct blood-forming cells to develop and fight infections. More specifically, this study tracks the medical history, treatments and health of people with severe combined immunodeficiency disorders (SCID). Patients with SCID have been treated with bone marrow stem cells, also called hematopoietic cell transplantation (HCT). Although HCT is a standard treatment for this group of diseases, every major center in North America that performs HCT for SCID has its own methods. For this study, centers across North America have organized into the Primary Immune Deficiency Treatment Consortium (PIDTC) to pool their experiences and study primary immune deficiencies together.
Subject to certain exclusion criteria, this study is enrolling participants of both genders, of all ages who have an SCID and are anticipating treatment with HCT, enzyme therapy or gene therapy.
Males and Females: All ages
With consent, medical record information of participants will be entered into the study database. Blood samples, mouth swabs and other biologic samples collected as part of normal care for this condition, before and after HCT or other therapy, will also be used for research purposes. At specific intervals, participants will also complete questionnaires relating to health assessment, quality of life, and neurological development.
Duration: Up to 8 years
Division of Allergy, Immunology, and Transplantation, National Institute of Allergy and Infectious Diseases
Primary Immune Deficiency Treatment Consortium (Protocol 6901)
Blood and Marrow Transplantation and Cellular Therapies Research
Primary Immune Deficiency Treatment Consortium
Jessie Barnum, MD
For more information about the study or enrollment, please contact:
Shawna McIntyre, Clinical Research Supervisor
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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