AND/OR >50% of CD3+ or CD4+T cells express HLA-DR (at Absence or very low number of T cells (CD3 T cells 2 years and ≤4 years: 4 years: 80% of CD3+ or CD4+ T cells are CD62L negative.Stratum A: Typical SCID (formerly referred to as Classic SCID)-Subjects who meet the following inclusion criteria and the intention is to treat with allogeneic hematopoietic cell transplant (HCT) are eligible for enrollment into Stratum A (Typical SCID) of the study: Neurocognitive Development By Stratum Measured by Wechsler Preschool and Primary Intelligence Scale of Intelligence, Third Edition (WPPSI III).A rise in standard scores from Baseline indicates improvement. Higher scores suggest a higher level of adaptive functioning. It yields an overall standard score (Adaptive Behavior Composite, ABC) and age standard scores in four domains: Communication, Daily Living Skills, Motor Skills, and Maladaptive Behaviour Index.ĪBC scores have a mean of 100 and a standard deviation of 15 (range = 20 to 160). Summary: The Vineland II is a measure of adaptive behavior in children, adolescents and adults. Since adaptive behavior refers to an individual's typical performance of the day-to-day activities required for personal and social sufficiency, these scales assess what a person actually does, rather than what he or she is able to do. The Vineland II measures the personal and social skills of individuals from birth through adulthood. Information that investigators will learn, both now and in the future, will help doctors and other health professionals to better treat children with SCID. This natural history study is the largest coordinated prospective study of participants with SCID ever performed. Information is also being gathered on how and when the immune system recovers after bone marrow transplant (BMT), quality of life for long-term survivors, and about whether children develop normally after treatment. The goal of this study is to learn more about: (1) outcomes from the treatment of SCID in the modern era of medicine (2) what factors lead to the best long-term outcomes, such as best donor, conditioning regimen, timing of transplant, etc., and (3) what impact newborn screening and the early diagnosis of SCID has had on the long-term outcomes following BMT or gene therapy. There are no experimental therapies on this study. Participants are then followed according to a schedule set out by the study protocol after the procedure. This study follows participants with SCID prospectively, meaning the study enrolls participants where there is a plan to receive a blood and marrow transplant, enzyme therapy, or gene therapy in the future. Severe Combined Immunodeficiency (SCID) Leaky SCID Omenn Syndrome Reticular Dysgenesis ADA SCID XSCID Stratum C: ADA deficient SCID and XSCID patients receiving alternative therapy including PEG-ADA ERT or gene therapy.Įach Group/Cohort Stratum will be analyzed separately.
Stratum B: Atypical SCID (leaky SCID, Omenn syndrome and reticular dysgenesis with limited T cell diversity or number and reduced function), and.Stratum A: Typical SCID with virtual absence of autologous T cells and poor T cell function.In order to determine the patient, recipient and transplant-related variables that are most important in determining outcome, study investigators will uniformly collect pre-, post- and peri-transplant (or other treatment) information on all children enrolled into this study.Ĭhildren will be divided into three strata: This study is a prospective evaluation of children with Severe Combined Immune Deficiency (SCID) who are treated under a variety of protocols used by participating institutions. Why Should I Register and Submit Results?.