Patients Treated for SCID (1968-Present)

Status unconfirmed

Conditions studied: SCID, ADA-SCID, XSCID, Leaky SCID, Omenn Syndrome, Reticular Dysgenesis

In brief

Individuals with a past diagnosis of severe combined immune deficiency (including many cases of "leaky SCID", Omenn syndrome, and reticular dysgenesis) who have undergone blood and marrow transplant, gene therapy, or enzyme replacement in the past may be eligible for this study. The purpose of study is to look backwards at what has already been done in the. Over 800 patients with SCID are expected to be enrolled, making this one of the largest studies ever to describe outcomes for patients with SCID treated at many different hospitals around North America.

Key facts

Study ID: NCT01346150
Run by: National Institute of Allergy and Infectious Diseases (NIAID)
People needed: 1007
Starts: 2011-05-15
Expected to finish: 2023-08-01
Last updated by the study team: 2020-11-12

Who can join

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

You may qualify if…

Strata A, B, and C (Part 1 - Retrospective Study)-
Individuals with Severe Combined Immune Deficiency (SCID) diagnosis who:
-were treated at a location participating in this consortium from 1968 until present, and
-are not enrolled in RDCRN PIDTC-6901 (ClinicalTrials.gov ID: NCT01186913).
Subjects who received HCT/GT/ERT prior to the present date are eligible for the retrospective study. The enrollment criteria for subjects who died prior to definitive therapy are the same as for Strata A, B and C.
Stratum A, Typical SCID:
Individuals who meet the following inclusion criteria and who received HCT are eligible for enrollment into Stratum A 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 cells of maternal origin present.
If maternal cells are present but the patient does not meet criteria for very low T cell function as defined, the assigned reviewers for the potential subject, and if necessary, the full PID-SCID RP will review the laboratory report to determine if criteria of maternal engraftment are met for Protocol 6902.
Laboratory report of testing for maternal engraftment is required, for evaluation by the PID-SCID RP.
Stratum B, Leaky SCID, Omenn Syndrome, Reticular Dysgenesis:
Individuals who meet the following criteria are eligible for enrollment into Stratum B of the study:
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 < 50% of lower limit of normal T cell function as measured by response to CD3/CD28 antibody, b) Absent or < 30% lower limit of normal proliferative responses to candida and tetanus toxoid antigens postvaccination or exposure,
AND at least one of the following (a through e):
Reduced number of CD3 T cells,
> 80% of CD3+ or CD4 T cells 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 at least one hypomorphic mutation in an autosomal SCID-causing gene.
d) Low 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,

You may not qualify if…

Parts 1 and 2 - Retrospective and Cross-Sectional Studies -
Lack of appropriate testing to rule out HIV infection after 1997 (p24 antigen or more sensitive) or other cause of secondary immunodeficiency,
Presence of DiGeorge syndrome,
Most patients with other PIDs such as nucleoside phosphorylase deficiency, ZAP70 deficiency, CD40 ligand deficiency, NEMO deficiency, XLP, cartilage hair hypoplasia or ataxia telangiectasia will not meet the inclusion criteria for Stratum A, B, or C above; however, a patient with one of the above may meet the inclusion criteria for Stratum B and if so will be included-
MHC Class I and MHC Class II antigen deficiency are excluded,
Metabolic conditions that imitate SCID or related disorders such as folate transporter deficiency, severe zinc deficiency, transcobalamin deficiency.

Where it is running

University of Alabama at Birmingham — Birmingham, Alabama, United States
Children's Hospital Los Angeles — Los Angeles, California, United States
Mattel Children's Hospital UCLA: Division of Pediatric Hematology/Oncology — 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:Center for Cancer and Blood Disorders — Denver, Colorado, 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
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
SSM 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: Department of Pediatrics — Hackensack, New Jersey, United States
Memorial Sloan-Kettering Cancer Center: Department of Pediatrics — New York, New York, United States
Duke University Medical Center: Department of Pediatrics, Division of Allergy/Immunology — Durham, North Carolina, United States
Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States
Oregon Health & Science University: Pediatric Hematology/Oncology — Portland, Oregon, United States
The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
St. Jude Children's Research Hospital — Memphis, Tennessee, United States
University of Texas Southwestern Medical Center Dallas — Dallas, Texas, United States

Full record on ClinicalTrials.gov

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