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Natural History Study of SCID Disorders

This study is currently recruiting participants.
See Contacts and Locations
Verified September 2016 by National Institute of Allergy and Infectious Diseases (NIAID)
Office of Rare Diseases (ORD)
Information provided by (Responsible Party):
National Institute of Allergy and Infectious Diseases (NIAID) Identifier:
First received: August 20, 2010
Last updated: September 26, 2016
Last verified: September 2016
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. The overall goal of this study is the prospective evaluation of children with SCID and related disorders who are treated under a variety of protocols at participating institutions. The study aims to identify variables contributing to the best outcomes for HCT.

SCID Leaky SCID Omenn Syndrome Reticular Dysgenesis ADA Deficiency XSCID

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children With SCID Disorders (RDCRN PIDTC-6901)

Resource links provided by NLM:

Further study details as provided by National Institute of Allergy and Infectious Diseases (NIAID):

Primary Outcome Measures:
  • Overall survival following HCT [ Time Frame: 4 years ]

Secondary Outcome Measures:
  • Full T cell reconstitution [ Time Frame: 6 months post HCT ]
  • Full T cell reconstitution [ Time Frame: 12 months post HCT ]
  • Full T cell reconstitution [ Time Frame: 24 months post HCT ]
  • Full B cell reconstitution [ Time Frame: 12 months post HCT ]
  • Full B cell reconstitution [ Time Frame: 24 months post HCT ]
  • Engraftment [ Time Frame: 100 days ]
  • Engraftment [ Time Frame: 6 months ]
  • Engraftment [ Time Frame: 12 months ]
  • Engraftment [ Time Frame: 24 months ]
  • Infections [ Time Frame: 24 months ]
  • Growth and Nutrition [ Time Frame: 24 months ]
  • Graft versus Host Disease [ Time Frame: 24 months ]
  • Occurrence of autoimmunity requiring treatment [ Time Frame: Throughout the study ]
  • Neurodevelopment/Neurocognition [ Time Frame: 24 months ]
  • Other complications of HCT needing treatment [ Time Frame: Throughout the study ]
  • Quality of Life [ Time Frame: 24 months ]

Estimated Enrollment: 265
Study Start Date: August 2010
Estimated Study Completion Date: August 2019
Estimated Primary Completion Date: August 2019 (Final data collection date for primary outcome measure)
Classic SCID (Stratum A)
Patients with classic SCID after allogeneic hematopoietic stem cell transplantation
Leaky SCID, Omenn syndrome, or RS (Stratum B)
Patients with leaky SCID, Omenn syndrome, or Reticular Dysgenesis (RS) after allogeneic hematopoietic stem cell transplantation
ADA Deficiency or XSCID treated with PEG-ADA (Stratum C)
Patients with ADA Deficiency or XSCID who are treated with PEG-ADA (patients with ADA Deficiency) or patients who are treated with gene therapy (ADA Deficiency or XSCID)


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with diagnosis of SCID or SCID variants treated at Consortium Centers from 1968-2010

Inclusion Criteria:

  • Stratum A, Classic SCID Patients 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 - Absence or very low number (< 300 / ul) of T cells, AND no or very low (<10% of lower limit of normal) T cell function (as measured by response to phytohemagglutinin OR T cells of maternal origin present, but with <10% of lower limit 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 and the intention is to treat with HCT are eligible for enrollment into Stratum B-

Leaky SCID:

  • <1000 / ul T cell number at < age 2 years; < 800 / ul T cell number at age 2 through < 4 years; < 600 / ul at > 4 years; and maternal lymphocytes not detected, AND either one or both of the following with rule-out of MHC Class I or II non-expression by flow cytometry (or histology):

    1. ≥ 10% and ≤ 30% of lower limit of normal T cell function (as measured by response to PHA), b) Absent proliferative responses to candida and tetanus toxoid antigens (post vaccination or exposure), with expression of HLA by flow/serology

      Omenn Syndrome:

  • Generalized skin rash
  • Maternal lymphocytes not detected
  • Absent or low (< 30% lower limit of normal) T cell proliferation to antigens
  • > 80% of CD4 T cells are CD45RO+ (< 2 years of age)

Reticular Dysgenesis:

  • < 300 / ul T cell number
  • None or < 10% lower limit of normal PHA proliferation
  • Sensori-neural deafness
  • Severe neutropenia (< 200 / uL and unresponsive to G-CSF) and deficiency of marrow granulopoiesis unless there is known adenylate kinase 2 (AK2) pathogenic mutation(s) identified

Stratum C, SCID with Non-HCT Treatments Patients who meet the following criteria and the intention is to treat with PEG-ADA or gene transfer with autologous modified cells are eligible for enrollment into Stratum C:

  • ADA Deficient SCID with intention to treat with PEG-ADA
  • ADA Deficient SCID with intention to treat with gene transfer
  • X-linked SCID with intention to treat with gene transfer

Exclusion Criteria:

  • Patients who meet any one or more of the following exclusion criteria are disqualified from enrollment in Strata A, B, or C of the study:
  • Presence of an HIV infection (by PCR) 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 specifically excluded.
  • Metabolic conditions that imitate SCID or related disorders such as folate transporter deficiency, severe zinc deficiency, transcobalamin deficiency
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01186913

  Hide Study Locations
United States, Alabama
University of Alabama at Birmingham Recruiting
Birmingham, Alabama, United States, 35233
Contact: Fredrick Goldman, MD    205-939-5855   
Principal Investigator: Fredrick Goldman, MD         
United States, Arizona
Phoenix Children's Hospital Recruiting
Phoenix, Arizona, United States, 85016
Contact: Roberta Adams, MD    602-933-0920   
Principal Investigator: Roberta Adams, MD         
United States, California
Children's Hospital Los Angeles Recruiting
Los Angeles, California, United States, 90027
Contact: Renna Killen, RN    323-361-2217   
Principal Investigator: Neena Kapoor, MD         
University of California, Los Angeles Recruiting
Los Angeles, California, United States, 90095-1752
Contact: Theodore Moore, MD    310-825-6708   
Principal Investigator: Theodore Moore, MD         
University of California San Francisco Children's Hospital Recruiting
San Francisco, California, United States, 94143-1278
Contact: Elizabeth Dunn, MA    415-502-0203   
Principal Investigator: Morton Cowan, MD         
Stanford University Recruiting
Stanford, California, United States, 94305
Contact: Matthew Porteus, MD    650-725-6520   
Principal Investigator: Matthew Porteus, MD         
United States, Colorado
Children's Hospital Denver Recruiting
Denver, Colorado, United States, 80220
Contact: John Craddock, MD    720-777-3328   
Principal Investigator: Ralph Quinoes, MD         
United States, Delaware
Alfred I. duPont Hospital for Children/Nemours Recruiting
Wilmington, Delaware, United States, 19803
Contact: Emi Caywood, MD    302-651-5500   
Principal Investigator: Emy Caywood, MD         
United States, District of Columbia
Children's National Medical Center Recruiting
Washington, District of Columbia, United States, 20010-2970
Contact: Blachy Dávila Dávila Saldaña, MD    (202)476-4561   
Principal Investigator: Blachy Dávila Saldaña, MD         
United States, Florida
All Children's Hospital, St. Petersburg FL Recruiting
St. Petersburg, Florida, United States, 33701
Contact: Aleksandra Petrovic, MD    727-767-6856   
Principal Investigator: Aleksandra Petrovic, MD         
United States, Georgia
Children's Healthcare of Atlanta/Emory University School of Medicine Recruiting
Atlanta, Georgia, United States, 30322
Contact: Elizabeth Stenger, MD    404-785-1272   
Principal Investigator: Elizabeth Stenger, MD         
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60614
Contact: Morris Kletzel, MD    773-880-4598   
Principal Investigator: Morris Kletzel, MD         
United States, Louisiana
Children's Hospital/Louisiana State University Health Sciences Center Recruiting
New Orleans, Louisiana, United States, 70118
Contact: Lolie Yu, MD    504-896-9740   
Principal Investigator: Lolie Yu, MD         
United States, Maryland
NIH Clinical Center Genetic Immunotherapy Section Recruiting
Bethesda, Maryland, United States, 20892
Contact: Elizabeth Kang, MD    301-402-7567   
Principal Investigator: Elizabeth Kang, MD         
United States, Massachusetts
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Sung-Yun Pai, MD    617-919-2508   
Principal Investigator: Sung-Yun Pai, MD         
United States, Michigan
University of Michigan Health System Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: James Connelly, MD    737-936-4000   
Principal Investigator: James Connelly, MD         
United States, Minnesota
University of Minnesota Medical Center Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Angie Smith, MD    612-626-2778   
Principal Investigator: Angie Smith, MD         
Mayo Clinic Hospital Recruiting
Rochester, Minnesota, United States, 55905
Contact: Richard Bram, MD    507-284-2695   
Principal Investigator: Richard Bram, MD         
United States, Missouri
Cardinal Glennon Children's Medical Center Recruiting
St. Louis, Missouri, United States, 63104
Contact: Wendy Sanders, RN    314-268-2700 ext 3513   
Principal Investigator: Alan Knutsen, MD         
Washington University St Louis Children's Hospital Recruiting
St. Louis, Missouri, United States, 63110
Contact: Shalini Shenoy, MD    314-454-6018   
Principal Investigator: Shalini Shenoy, MD         
United States, New Jersey
Hackensack University Medical Center Recruiting
Hackensack, New Jersey, United States, 07601
Contact: Alfred Gillio, MD    201-996-5645   
Principal Investigator: Alfred Gillio, MD         
United States, New York
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Monica Bhatia, MD    212-305-9138   
Principal Investigator: Monica Bhatia, MD         
Memorial Sloan-Kettering Cancer Center Recruiting
New York, New York, United States, 10065
Contact: Richard J O'Reilly    212-639-5957   
Principal Investigator: Richard J O'Reilly, MD         
University of Rochester Medical Center/ Golisano Children's Hospital Recruiting
Rochester, New York, United States, 14642
Contact: Jeffrey Andolina, MD    585-276-3229   
Principal Investigator: Jeffrey Andolina, MD         
New York Medical College, Maria Fareri Children's Hospital Recruiting
Valhalla, New York, United States, 10595
Contact: Cori Abikoff, MD    914-594-2130   
Principal Investigator: Cori Abikoff, MD         
United States, North Carolina
Duke University Recruiting
Durham, North Carolina, United States, 27710
Contact: Rebecca Buckley, MD    919-684-2922   
Principal Investigator: Rebecca Buckley, MD         
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Sharat Chandra, MD    513-636-5917   
Principal Investigator: Sharat Chandra, MD         
Rainbow Babies/ University Hospitals Case Medical Center Not yet recruiting
Cleveland, Ohio, United States, 44106
Contact: Sanjay Ahuja, MD    216-844-3345   
Principal Investigator: Sanjay Ahuja, MD         
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Rolla Abu-arja, MD    614-722-3582   
Principal Investigator: Rolla Abu-arja, MD         
United States, Oregon
Oregon Health and Science University Recruiting
Portland, Oregon, United States, 97239-3098
Contact: Evan Shereck, MD    503-494-0829   
Principal Investigator: Evan Shereck, MD         
United States, Pennsylvania
The Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Kathleen Sullivan, MD, PhD    215-590-1697   
Principal Investigator: Kathleen Sullivan, MD, PhD         
Children's Hospital of Pittsburgh of UPMC Recruiting
Pittsburg, Pennsylvania, United States, 15224
Contact: Mark T. Vander Lugt, MD    412-692-7035   
Principal Investigator: Mark T. Vander Lugt, MD         
United States, Texas
University of Texas Southwestern Medical Center/Children's of Dallas Recruiting
Dallas, Texas, United States, 75390-9263
Contact: Victor Aquino, MD    214-648-8800   
Principal Investigator: Victor Aquino, MD         
Texas Children's Hospital Recruiting
Houston, Texas, United States, 77030-2399
Contact: Chivon McMullen-Jackson, RN, BSN    832-824-1339   
Principal Investigator: William Shearer, MD         
Methodist Children's Hospital of South Texas/Texas Transplant Institute Recruiting
San Antonio, Texas, United States, 78229
Contact: Troy Quigg, MD    210-575-7348   
Principal Investigator: Troy Quigg, MD         
United States, Utah
Primary Children's Medical Center/University of Utah Recruiting
Salt Lake City, Utah, United States, 84113
Contact: Michael Boyer, MD    801-662-4830   
Principal Investigator: Michael Boyer, MD         
United States, Washington
Seattle Children's Research Institute Recruiting
Seattle, Washington, United States, 98101
Contact: Lauri M Burroughs, MD    206-667-2396   
Principal Investigator: Lauri M Burroughs, MD         
United States, Wisconsin
University of Wisconsin/ American Family Children's Hospital Recruiting
Madison, Wisconsin, United States, 53705-2275
Contact: Kenneth DeSantes, MD    608-263-8563   
Principal Investigator: Kenneth DeSantes         
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226-4874
Contact: Monica S Thakar, MD    414-266-6848   
Principal Investigator: Monica S Thakar, MD         
Canada, British Columbia
British Columbia Children's Hospital Recruiting
Vancouver, British Columbia, Canada, V6H 3V4
Contact: Jeffrey Davis, MD    604-875-3577   
Principal Investigator: Jeffrey Davis, MD         
Canada, Manitoba
Cancer Care Manitoba Recruiting
Winnipeg, Manitoba, Canada, R3E 0V9
Contact: Geoff Cuvelier, MD    204-787-8689   
Principal Investigator: Geoff Cuvelier, MD         
Canada, Quebec
CHU St. Justine Recruiting
Montreal, Quebec, Canada, H3T 1C5
Contact: Elie Haddad, MD    514-345-4931 ext 6217   
Principal Investigator: Elie Haddad, MD         
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Office of Rare Diseases (ORD)
Principal Investigator: Rebecca Buckley, MD Duke University
Principal Investigator: Morton J. Cowan, MD UCSF Children's Hospital
  More Information

Additional Information:

Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID) Identifier: NCT01186913     History of Changes
Obsolete Identifiers: NCT02108067
Other Study ID Numbers: DAIT RDCRN PIDTC-6901
Study First Received: August 20, 2010
Last Updated: September 26, 2016

Additional relevant MeSH terms:
Severe Combined Immunodeficiency
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases
Immunologic Deficiency Syndromes
Immune System Diseases processed this record on September 21, 2017