Primary Immune Deficiency Treatment Consortium

6901: A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders

Status: Recruiting

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Background

People with Primary Immune Deficiencies (PID) including severe combined immunodeficiency (SCID) may get severe, life-threatening infections as a result of inherited defects in the genes that normally instruct our blood-forming cells to develop and to fight infections. 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. Bone marrow stem cells are the cells in the bone marrow that make the cells in the blood including white cells, red cells and platelets (cells that help control bleeding). Patients with SCID were among the first to receive bone marrow stem cell (also called hematopoietic cell) transplantation (HCT) more than 40 years ago, and HCT is the standard treatment today for this group of diseases. However, every major center in North America that performs HCT for SCID has its own method of treating the patient and the hematopoietic cells to be transplanted.

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 primary immune deficiencies (PIDs) together. Depending on the specific type of PID, there are effective treatments, including antibiotics, antibody replacement, enzyme therapy, cellular therapy and gene therapy, but studies are needed to determine which treatments lead to the best long-term success

About this Study

Thirteen major centers and at least nineteen other centers in the Pediatric Blood and Marrow Transplant Consortium (PBMTC) will participate and enroll approximately 250-300 subjects into this study. A total of 8 study visits will be scheduled over a four year period to collect study related information and tissue samples and to administer health assessment questionnaires:

Information that will be collected may include all or some of the following:

  • Medical history from the time of birth and throughout treatment and follow up.
  • PID-related information from physical examinations.
  • Medications you have received for your PID disease.
  • Results from PID-related laboratory and medical tests.
  • Demographic information, such as date of birth, gender, and ethnic background.
  • Information about your treatment with HCT, enzyme-replacement or gene therapy.

Tissue samples will be collected to analyze immune function and study DNA and may include all or some of the following:

  • Blood
  • Bone marrow
  • Buccal cells (cells from inside the mouth)
  • Skin cells

Health assessment questionnaires: You will be asked to complete questionnaires and IQ testing if this has not been done as part of your regular care.

Targeted Enrollment

To be eligible to participate, you must:

  • Have a known or suspected diagnosis of Primary Immune Deficiency (including SCID, leaky SCID, Omenn syndrome, and Reticular Dysgenesis) that may be treated with transplantation of blood or bone marrow stem cells, enzyme (a type of protein that is made by the body’s cells) replacement therapy or gene therapy (the treatment of disease by replacing genes).

You are not eligible to participate if you have:

  • HIV infection or other cause of secondary immunodeficiency.
  • DiGeorge syndrome.
  • Other PIDs such as nucleoside phosphorylase deficiency, ZAP70 deficiency, CD40 ligand deficiency, NEMO deficiency, XLP, cartilage hair hypoplasia or ataxia telangiectasia.
  • MHC Class I and MHC Class II antigen deficiency.
  • Metabolic conditions that imitate SCID or related disorders such as folate transporter deficiency, severe zinc deficiency, transcobalamin deficiency.

How to participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

United States

Alabama

  • University of Alabama at Birmingham, Birmingham, AL
    Contact: Frederick Goldman, MD
    Phone: 205-939-5855
    Email: fgoldman@peds.uab.edu

California

  • Children’s Hospital Los Angeles, Los Angeles, CA
    Contact: Renna Killen, RN
    Phone: 323-361-2217
    Email: rkillen@chla.usc.edu

  • University of California, Los Angeles, Los Angeles, CA
    Contact: Theodore Moore, MD
    Phone: 310-825-6708
    Email: tbmoore@mednet.ucla.edu

Illinois

Minnesota

  • University of Minnesota Medical Center, Minneapolis, MN
    Contact: Angie Smith, MD
    Phone: 612-626-2778
    Email: smith719@umn.edu

Missouri

  • Cardinal Glennon Children’s Medical Center, St. Louis, MO
    Contact: Wendy Sanders, RN
    Phone: 314-268-2700 ext 3513
    Email: wendy_sanders@ssmhc.com

New York

  • Memorial Sloan-Kettering Cancer Center, NY, NY
    Contact: Carolyn Doorish
    Phone: 646-888-5718
    Email: doorishc@mskc.org

North Carolina

  • Duke University, Durham, NC
    Contact: Rebecca Buckley, MD
    Phone: 919-684-2922
    Email: buck1003@mc.duke.edu

Ohio

  • Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
    Contact: Angie Poston, BS
    Phone: 513-636-8815
    Email: angela.poston@cchmc.org

Pennsylvania

  • The Children’s Hospital of Philadelphia, Philidelphia, PA
    Contact: Kathleen Sullivan, MD, PhD
    Phone: 215-590-1697
    Email: sullivak@mail.med.upenn.edu

Texas

  • Methodist Children’s Hospital of South Texas/Texas Transplant Institute, San Antonio, TX
    Contact: Ka Wah Chan, MD
    Phone: 210-575-7268
    Email: kawah.chan@mhshealth.com

  • Texas Children’s Hospital, Houston, TX
    Contact: Chivon McMullen-Jackson, RN, BSN
    Phone: 832-824-1339
    Email: cdmcmull@texaschildrens.org

  • University of Texas Southwestern Medical Center/Children’s of Dallas, Dallas, TX
    Contact: Victor Aquino, MD
    Phone: 214-648-8800
    Email: victor.aquino@utsouthwestern.edu

Utah

  • Primary Children’s Medical Center/University of Utah, Salt Lake City, UT
    Contact: Michael Pulsipher, MD
    Phone: 801-662-4830
    Email: michael.pulsipher@hsc.utah.edu

Canada

Manitoba

Cancer Care Manitoba, Winnipeg, Manitoba, Canada
Contact: Geoff Cuvelier, MD
Phone: 204-787-8689
Email: Geoff.cuvelier@cancercare.mb.ca

 

Join the Contact Registry for: Severe Combined Immunodeficiency (SCID)