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Patients Treated for SCID (1968-2010)

Information source: National Institute of Allergy and Infectious Diseases (NIAID)
ClinicalTrials.gov processed this data on August 20, 2015
Link to the current ClinicalTrials.gov record.

Condition(s) targeted: SCID; ADA-SCID; XSCID; Leaky SCID; Omenn Syndrome; Reticular Dysgenesis

Phase: N/A

Status: Recruiting

Sponsored by: National Institute of Allergy and Infectious Diseases (NIAID)

Official(s) and/or principal investigator(s):
Richard J O'Reilly, MD, Principal Investigator, Affiliation: Memorial Sloan Kettering Cancer Center
Morton J Cowan, MD, Principal Investigator, Affiliation: UCSF Children's Hospital


People with Primary Immune Deficiency (PID) may develop severe, life-threatening infections as a result of inherited defects in the genes that normally instruct blood-forming cells to develop and to fight infections. PID diseases include Severe Combined Immune Deficiency (SCID), leaky SCID, Omenn syndrome (OS), and Reticular Dysgenesis (RD). PIDs may be treated by transplantation of bone marrow stem cells from a healthy person or, in some cases, by enzyme replacement or by gene therapy. Patients with SCID were among the first to receive bone marrow stem cell (also called hematopoietic cells) transplantation (HCT) more than 40 years ago, and HCT is the standard treatment today for this group of diseases. Since PID diseases are rare, there are not enough patients at any single center to determine the full range of causes, natural history, or best methods of treatment. For this research study many PID centers across North America have organized into the Primary Immune Deficiency Treatment Consortium (PIDTC) to pool their experience and study PIDs together. Researchers will collect information on your general health, psychological and developmental health, and the current status of your immune system to help better define future approaches to PID treatments.

Clinical Details

Official title: A Retrospective and Cross-Sectional Analysis of Patients Treated for SCID (1968-2010) (RDCRN PIDTC-6902)

Study design: Observational Model: Cohort, Time Perspective: Retrospective

Primary outcome:

Retrospective Study - Part 1

Cross-Sectional Study - Part 2

Secondary outcome:

Retrospective Study Part 1

Retrospective Study - Part 1

Cross-Sectional Study - Part 2

Cross-Sectional Study - Part 2


Minimum age: N/A. Maximum age: N/A. Gender(s): Both.


Investigators from institutions participating in this consortium will submit data to the PIDTC Review Panel to determine eligibility and stratum assignment. The eligibility of the patients and their stratification by SCID variant and treatment employed for SCID will be as follows. Inclusion Criteria:

Strata A, B, and C (Part 1 - Retrospective Study).

Patients eligible for the retrospective analysis include all patients diagnosed to have SCID who were treated at the institutions participating in this consortium from 1968 until December 31, 2010, who are not already enrolled on PIDTC Protocol 1. Subjects who received HCT/GT/ERT prior to December 31, 2010 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. Patients who meet the following inclusion criteria and who received HCT are eligible for enrollment into Stratum A (Classic 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, but with < 10% of normal T cell function (as measured by response to PHA). Stratum B, Leaky SCID, Omenn Syndrome, Reticular Dysgenesis. Patients who meet the following criteria are eligible for enrollment into Stratum B of the study: Leaky SCID

- Reduced number of CD3 T cells - for age up to 2 years ≥ 300 and < 1000/microliter;

for > 2 years up to 4 years ≥ 300 and < 800/microliter ; for > 4 years ≥ 300 and < 600/microliter

- Absence of maternal engraftment ≥ 10% and ≤ 30% of lower limit of normal T cell

function (as measured by response to PHA) Omenn Syndrome (OS)

- Generalized skin rash

- Absence of maternal engraftment

- Detectable CD3 T cells, ≥ 300/microliter

- Absent or low (up to 30% of normal) T cell proliferation to antigens to which the

patient has been exposed

- If the proliferation to antigen was not performed, but at least 4 of the following 9

supportive criteria, at least one of which must be among those marked with an asterisk (*) are present, the patient is eligible: Hepatomegaly; Splenomegaly; Lymphadenopathy; Elevated IgE; Elevated absolute eosinophil count; *Oligoclonal T cells measured by CDR3 length or flow cytometry >80% of CD4+ T cells are CD45RO+ ; *Proliferation to PHA is reduced <30% of lower limit of normal or SI <20; *Proliferative response in mixed leukocyte reaction is reduced <30% of lower limit of normal or SI <5 Reticular Dysgenesis (RD)

- Absence or very low number of T cells (CD3 T cells <300/microliter)

- No or very low (<10% of lower limit of normal) T cell function (as measured by

response to phytohemagglutinin (PHA)

- Severe congenital neutropenia (absolute neutrophil count <200/microliter)

- Sensorineural deafness and/or absence of granulopoiesis at bone marrow examination

Stratum C, SCID with Non-HCT Treatments. Patients who meet the following criteria and were treated with PEG-ADA or gene therapy with autologous modified cells are eligible for enrollment into Stratum C (SCID with non-HCT treatments) of the study.

- ADA Deficient SCID treated with PEG-ADA

- Any SCID treated with gene therapy

Strata A, B, and C (Part 2 - Cross-Sectional Study)

Patient inclusion criteria for the cross sectional study: Eligibility for Strata A, B and C are the same as for the retrospective study except that all the patients in the cross-sectional study are currently surviving and are at least 2 years post the most recent class of therapy. Exclusion Criteria:

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

Locations and Contacts

University of Alabama at Birmingham, Birmingham, Alabama 35233, United States; Recruiting
Fredrick Goldman, MD, Phone: 205-939-5855, Email: fgoldman@peds.uab.edu
Fredrick Goldman, MD, Principal Investigator

British Columbia Children's Hospital, Vancouver, British Columbia V6H 3V4, Canada; Recruiting
Jeffrey Davis, MD, Phone: (604) 875-3577, Email: jdavis@cw.bc.ca
Jeffrey Davis, MD, Principal Investigator

Children's Hospital Los Angeles, Los Angeles, California 90027, United States; Recruiting
Renna Killen, RN, Phone: 323-361-2217, Email: rkillen@chla.usc.edu
Neena Kapoor, MD, Principal Investigator

University of California, Los Angeles, Los Angeles, California 90095-1752, United States; Recruiting
Theodore Moore, MD, Phone: 310-825-6708, Email: TBMoore@mednet.ucla.edu
Theodore Moore, MD, Principal Investigator

University of California San Francisco Children's Hospital, San Francisco, California 94143-1278, United States; Recruiting
Elizabeth Dunn, Phone: 415-476-4860, Email: DunnE@peds.ucsf.edu
Morton Cowan, MD, Principal Investigator

Stanford University, Stanford, California 94305, United States; Recruiting
Matthew Porteus, MD, Phone: 650-725-6520, Email: mporteus@stanford.edu
Matthew Porteus, MD, Principal Investigator

Children's Hospital Denver, Denver, Colorado 80220, United States; Recruiting
John Craddock, MD, Phone: 720-777-3328, Email: John.Craddock@childrenscolorado.org
John Craddock, MD, Principal Investigator

Children's National Medical Center, Washington, District of Columbia 20010-2970, United States; Recruiting
Brett Loechelt, MD, Phone: 202-476-2805, Email: BLoechel@childrensnational.org
Brett Loechelt, MD, Principal Investigator

All Children's Hospital, St. Petersburg FL, St. Petersburg, Florida 33701, United States; Recruiting
Aleksandra Petrovic, MD, Phone: 727-767-6856, Email: Aleksandra.Petrovic@allkids.org
Aleksandra Petrovic, MD, Principal Investigator

Children's Healthcare of Atlanta/Emory University School of Medicine, Atlanta, Georgia 30322, United States; Recruiting
Elizabeth Stenger, MD, Phone: 404-785-1272, Email: Elizabeth.Stenger@choa.org
Elizabeth Stenger, MD, Principal Investigator

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60614, United States; Recruiting
Morris Kletzel, MD, Phone: 773-880-4598, Email: MKletzel16@northwestern.edu
Morris Kletzel, MD, Principal Investigator

Children's Hospital/Louisiana State University Health Sciences Center, New Orleans, Louisiana 70118, United States; Recruiting
Lolie Yu, MD, Phone: 504-896-9740, Email: lyu@lsuhsc.edu
Lolie Yu, MD, Principal Investigator

Cancer Care Manitoba, Winnipeg, Manitoba R3E 0V9, Canada; Recruiting
Marlis Schroeder, MD, Phone: (204) 787-4372, Email: marlis.schroeder@cancercare.mb.ca
Marlis Schroeder, MD, Principal Investigator

NIH Clinical Center Genetic Immunotherapy Section, Bethesda, Maryland 20892, United States; Not yet recruiting
Elizabeth Kang, MD, Phone: 301-402-7567, Email: ekang@niaid.nih.gov
Elizabeth Kang, MD, Principal Investigator

Children's Hospital Boston, Boston, Massachusetts 02115, United States; Recruiting
Sung-Yun Pai, MD, Phone: 617-919-2508, Email: sung-yun.pai@childrens.harvard.edu
Sung-Yun Pai, MD, Principal Investigator

University of Michigan Health System, Ann Arbor, Michigan 48109, United States; Recruiting
James Connelly, MD, Phone: 737-936-4000, Email: jaconnel@med.umich.edu
James Connelly, MD, Principal Investigator

University of Minnesota Medical Center, Minneapolis, Minnesota 55455, United States; Recruiting
Angie Smith, MD, Phone: 612-626-2778, Email: smith719@umn.edu
Angie Smith, MD, Principal Investigator

Cardinal Glennon Children's Medical Center, St. Louis, Missouri 63104, United States; Recruiting
Wendy Sanders, RN, Phone: 314-268-2700, Ext: 3513, Email: Wendy_Sanders@ssmhc.com
Alan Knutsen, MD, Principal Investigator

Washington University St Louis Children's Hospital, St. Louis, Missouri 63110, United States; Recruiting
Shalini Shenoy, MD, Phone: 314-454-6018, Email: shenoy@wustl.edu
Shalini Shenoy, MD, Principal Investigator

Hackensack University Medical Center, Hackensack, New Jersey 07601, United States; Recruiting
Alfred Gillio, MD, Phone: 201-996-5645, Email: AGillio@HackensackUMC.org
Alfred Gillio, MD, Principal Investigator

Memorial Sloan-Kettering Cancer Center, New York, New York 10065, United States; Recruiting
Richard J O'Reilly, MD, Phone: 212-639-5957, Email: oreillyr@mskc.org
Richard J O'Reilly, MD, Principal Investigator

Duke University, Durham, North Carolina 27710, United States; Recruiting
Rebecca Buckley, MD, Phone: 919-684-2922, Email: buck1003@mc.duke.edu
Rebecca Buckley, MD, Principal Investigator

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, United States; Recruiting
Lisa Filipovich, MD, Phone: 513-636-5917, Email: Lisa.Filipovich@cchmc.org
Lisa Filipovich, MD, Principal Investigator

Oregon Health and Science University, Portland, Oregon 97239-3098, United States; Recruiting
Evan Shereck, MD, Phone: 503-494-0829, Email: Shereck@ohsu.edu
Evan Shereck, MD, Principal Investigator

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States; Recruiting
Kathleen Sullivan, MD, PhD, Phone: 215-590-1697, Email: sullivak@mail.med.upenn.edu
Kathleen Sullivan, MD, PhD, Principal Investigator

CHU St. Justine, Montreal, Quebec H3T 1C5, Canada; Recruiting
Elie Haddad, MD, Phone: (514) 345-4931, Ext: 6217, Email: elie.haddad@umontreal.ca
Elie Haddad, MD, Principal Investigator

University of Texas Southwestern Medical Center/Children's of Dallas, Dallas, Texas 75390-9263, United States; Recruiting
Victor Aquino, MD, Phone: 214-648-8800, Email: victor.aquino@utsouthwestern.edu
Victor Aquino, MD, Principal Investigator

Texas Children's Hospital, Houston, Texas 77030-2399, United States; Recruiting
Chivon McMullen-Jackson, RN, BSN, Phone: 832-824-1339, Email: cdmcmull@texaschildrens.org
William Shearer, MD, Principal Investigator

Methodist Children's Hospital of South Texas/Texas Transplant Institute, San Antonio, Texas 78229, United States; Recruiting
Troy Quigg, MD, Phone: 210-575-7348, Email: Troy.Quigg@MHShealth.com
Troy Quigg, MD, Principal Investigator

Primary Children's Medical Center/University of Utah, Salt Lake City, Utah 84113, United States; Recruiting
Michael Pulsipher, MD, Phone: 801-662-4830, Email: michael.pulsipher@hsc.utah.edu
Michael Pulsipher, MD, Principal Investigator

University of Washington & Seattle Children's Hospital/ Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, United States; Recruiting
Lauri M. Burroughs, MD, Phone: 206-667-2396, Email: lburroug@fhcrc.org
Lauri Burroughs, MD, Principal Investigator

University of Wisconsin/ American Family Children's Hospital, Madison, Wisconsin 53705-2275, United States; Recruiting
Kenneth DeSantes, MD, Phone: 608-263-8563, Email: kbdesantes@pediatrics.wisc.edu
Kenneth DeSantes, MD, Principal Investigator

Medical College of Wisconsin, Milwaukee, Wisconsin 53226-4874, United States; Recruiting
John M. Routes, MD, Phone: 414-456-4802, Email: jroutes@mce.edu
James Casper, MD, Phone: (414) 456-4170, Email: jcasper@mcw.edu
John M. Routes, MD, Principal Investigator

Additional Information

Starting date: May 2011
Last updated: June 2, 2015

Page last updated: August 20, 2015

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