Natural History Study of SCID Disorders

Enrolling by invitation

Conditions studied: Severe Combined Immunodeficiency (SCID), Leaky SCID, Omenn Syndrome, Reticular Dysgenesis, ADA SCID, XSCID

In brief

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. 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. Children will be divided into three strata: * Stratum A: Typical SCID with virtual absence of autologous T cells and poor T cell function * Stratum B: Atypical SCID (leaky SCID, Omenn syndrome and reticular dysgenesis with limited T cell diversity or number and reduced function), and * Stratum C: ADA deficient SCID and XSCID patients receiving alternative therapy including PEG-ADA ERT or gene therapy. Each Group/Cohort Stratum will be analyzed separately.

Key facts

Study ID: NCT01186913
Run by: National Institute of Allergy and Infectious Diseases (NIAID)
People needed: 690
Starts: 2010-09-02
Expected to finish: 2028-09-01
Last updated by the study team: 2020-11-10

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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:
Absence or very low number of T cells (CD3 T cells <300/microliter) AND
No or very low T cell function (<10% of lower limit of normal) as measured by response to phytohemagglutinin (PHA) OR
T cells of maternal origin present.
Stratum B: Leaky SCID, Omenn Syndrome, Reticular Dysgenesis-
Subjects who meet the following criteria and the intention is to treat with HCT are eligible for enrollment into Stratum B:
Leaky SCID:
Maternal lymphocytes tested for and not detected AND
Either one or both of the following (a,b) :
a.) <50% of lower limit of normal T cell function as measured by response to PHA, OR response to anti-CD3/CD28 antibody
b.) Absent or <30% of lower limit of normal proliferative responses to candida and tetanus toxoid antigens
AND at least two of the following (a through e):
a.) Reduced number of CD3 T cells
age ≤2 years: <1500/microliter
age >2 years and ≤4 years: <800/microliter
age >4 years: <600/microliter
b.) ≥80% of CD3+ or CD4+ T cells that are CD45RO+
AND/OR >80% of CD3+ or CD4+ T cells are CD62L negative
AND/OR >50% of CD3+ or CD4+T cells express HLA-DR (at <4 years of age)
AND/OR are oligoclonal T cells
c.) Hypomorphic mutation in IL2RG in a male, or homozygous hypomorphic mutation or compound heterozygosity with ≥1 hypomorphic mutation in an autosomal SCID-causing gene
d.) Low T Cell Receptor Excision Circles (TRECs) and/or the percentage of CD4+/45RA+/CD31+ or CD4+/45RA+/CD62L+ cells is below the lower limit of normal.
e.) Functional testing in vitro supporting impaired, but not absent, activity of the mutant protein, AND
Does not meet criteria for Omenn Syndrome.
Omenn Syndrome:

You may not qualify if…

Subjects who meet any of the following exclusion criteria are disqualified from enrollment in Strata A, B, or C of the study:
Presence of an Human Immunodeficiency Virus (HIV) infection (by PCR) or other cause of secondary immunodeficiency
Presence of DiGeorge syndrome
MHC Class I and MHC Class II antigen deficiency, and
Metabolic conditions that imitate SCID or related disorders such as folate transporter deficiency, severe zinc deficiency or transcobalamin deficiency.

Where it is running

University of Alabama at Birmingham — Birmingham, Alabama, United States
Phoenix Children's Hospital — Phoenix, Arizona, United States
Children's Hospital Los Angeles — Los Angeles, California, United States
University of California, Los Angeles — Los Angeles, California, United States
Lucile Salter Packard Children's Hospital at Stanford — Palo Alto, California, United States
University of California San Francisco Children's Hospital — San Francisco, California, United States
Children's Hospital Denver — Denver, Colorado, United States
Alfred I. duPont Hospital for Children/Nemours — Wilmington, Delaware, United States
Children's National Medical Center — Washington D.C., District of Columbia, United States
Johns Hopkins All Children's Hospital — St. Petersburg, Florida, United States
Children's Healthcare of Atlanta/Emory University School of Medicine — Atlanta, Georgia, United States
Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States
Children's Hospital/Louisiana State University Health Sciences Center — New Orleans, Louisiana, United States
NIH Clinical Center Genetic Immunotherapy Section — Bethesda, Maryland, United States
Children's Hospital Boston — Boston, Massachusetts, United States
University of Michigan Health System — Ann Arbor, Michigan, United States
University of Minnesota Medical Center — Minneapolis, Minnesota, United States
Mayo Clinic Hospital — Rochester, Minnesota, United States
Cardinal Glennon Children's Medical Center — St Louis, Missouri, United States
Washington University St Louis Children's Hospital — St Louis, Missouri, United States
Hackensack University Medical Center — Hackensack, New Jersey, United States
Memorial Sloan-Kettering Cancer Center — New York, New York, United States
University of Rochester Medical Center/ Golisano Children's Hospital — Rochester, New York, United States
New York Medical College, Maria Fareri Children's Hospital — Valhalla, New York, United States
Duke University — Durham, North Carolina, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.