A Retrospective and Cross-Sectional Analysis of Patients Treated for Severe Combined Immunodeficiency (SCID)

Protocol
11-067
Full Title
A Retrospective and Cross-Sectional Analysis of Patients Treated for Severe Combined Immunodeficiency (SCID) Since January 1, 1968 (RDCRN PIDTC #6902)
Purpose

Children with severe combined immunodeficiency (SCID) can develop life-threatening infections as a result of inherited defects in genes that are important for fighting infection. In this study, researchers are assessing how well patients with SCID are doing at least two years after receiving treatment that included a bone marrow transplant, enzyme replacement therapy, or gene therapy. The results of this study will help doctors better understand SCID and how to diagnose and treat it most effectively.

Researchers will obtain medical information and blood and other samples from patients during their routine medical visits to Memorial Sloan Kettering Cancer Center. Patients (and their parents, if the patients are children) will also be asked to complete questionnaires about their quality of life and daily activities. The study will also include information from some donors who provided stem cells for a SCID patient, to ask them about their general health and to obtain and study a blood sample.

Eligibility

This study includes patients treated for SCID between 1968 and 2010 with bone marrow transplantation, enzyme replacement therapy, or gene therapy who completed treatment at least two years before entering the study. The study also includes some participants who donated stem cells to a SCID patient.

For more information about this study, please contact Dr. Richard O’Reilly at 212-639-5957.

Disease(s)
Hematology: Hematologic Disorders
Locations