ClinicalTrials.gov
ClinicalTrials.gov Menu

Natural History Study of SCID Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01186913
Recruitment Status : Recruiting
First Posted : August 23, 2010
Last Update Posted : November 21, 2018
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
Primary Immune Deficiency Treatment Consortium (PIDTC)
Information provided by (Responsible Party):
National Institute of Allergy and Infectious Diseases (NIAID)

Brief Summary:

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.


Condition or disease
Severe Combined Immunodeficiency (SCID) Leaky SCID Omenn Syndrome Reticular Dysgenesis ADA SCID XSCID

Detailed Description:

This study follows participants with SCID prospectively, meaning the study enrolls participants where there is a plan to receive a blood and marrow transplant, enzyme therapy, or gene therapy in the future. Participants are then followed according to a schedule set out by the study protocol after the procedure. There are no experimental therapies on this study.

The study plans to enroll over 540 participants with SCID. By studying new participants undergoing treatment for SCID, the goal is to learn more about: (1) outcomes from the treatment of SCID in the modern era of medicine (2) what factors lead to the best long-term outcomes, such as best donor, conditioning regimen, timing of transplant, etc., and (3) what impact newborn screening and the early diagnosis of SCID has had on the long-term outcomes following BMT or gene therapy. Information is also being gathered on how and when the immune system recovers after bone marrow transplant (BMT), quality of life for long-term survivors, and about whether children develop normally after treatment.

This natural history study is the largest coordinated prospective study of participants with SCID ever performed. Information that investigators will learn, both now and in the future, will help doctors and other health professionals to better treat children with SCID.


Study Type : Observational
Estimated Enrollment : 540 participants
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)
Study Start Date : August 2010
Estimated Primary Completion Date : August 2019
Estimated Study Completion Date : August 2019


Group/Cohort
Stratum A: Typical SCID +HCT

Stratum A: Typical Severe Combined Immunodeficiency (SCID) treated with HCT therapy.

Participants with typical (formerly referred to as classic) SCID + allogeneic hematopoietic stem cell transplantation (HCT) therapy according to standard of care, per local protocol.

Stratum B: Atypical SCID +HCT

Stratum B: Atypical Severe Combined Immunodeficiency (SCID) treated with HCT therapy.

Participants with leaky SCID, Omenn syndrome, or Reticular Dysgenesis (RS) + allogeneic hematopoietic stem cell transplantation (HCT) therapy according to standard of care, per local protocol.

Stratum C:SCID +Non-HCT

Stratum C: Severe Combined Immunodeficiency (SCID) who receive alternative therapy per standard of care, non-standard care and/or investigational. This stratum includes:

  • Adenosine Deaminase-Deficient SCID (ADA Deficient SCID) with intention to treat with Polyethylene Glycol -Adenosine Deaminase Enzyme Replacement Therapy (PEG-ADA ERT)
  • ADA Deficient SCID with intention to treat with gene therapy
  • X-linked SCID (XSCID) with intention to treat with gene therapy
  • Any individual with SCID previously treated with a thymus transplant (includes intention to treat with HCT, as well as PEG-ADA ERT or gene therapy)



Primary Outcome Measures :
  1. Overall Survival (OS) at Month 6 Post HCT [ Time Frame: Month 6 Post HCT ]

    Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID).

    The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 6 months.


  2. Overall Survival (OS) at Year 2 Post HCT [ Time Frame: Year 2 Post HCT ]

    Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID).

    The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 2 years.


  3. Overall Survival (OS) at Year 5 Post HCT [ Time Frame: Year 5 Post HCT ]

    Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID).

    The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 5 years.


  4. Overall Survival (OS) at Year 8 Post HCT [ Time Frame: Year 8 Post HCT ]

    Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID).

    The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 8 years.



Secondary Outcome Measures :
  1. T Cell Reconstitution by Stratum-Month 6, Year 2, Year 5 and Year 8 Post-SCID Treatment [ Time Frame: From SCID Treatment (HCT, ERT or GT) to Month 6, Year 2, Year 5 and Year 8 Post-SCID Treatment ]

    A measure of immune reconstitution defined by the presence of three out of four of:

    1. Lymphocyte proliferation to PHA ≥50% of lower limit of normal control
    2. Total CD3+ > 1000 / microliter
    3. Total CD4+ > 500 / microliter
    4. Total CD4+ CD45RA+ > 200 / microliter

    AND, for participants who received allogeneic HCT:

    -Donor T cell chimerism ≥80%


  2. B Cell Reconstitution by Stratum-Month 6, Year 2, Year 5 and Year 8 Post-SCID Treatment [ Time Frame: From SCID Treatment (HCT, ERT or GT) to Month 6, Year 2, Year 5 and Year 8 Post-SCID Treatment ]

    A measure of immune reconstitution defined by:

    -Intravenous Immunoglobulin (IVIG) independence and at least three of the following:

    1. Normal IgA and IgM levels for age
    2. Normal IgG levels for age, independent of supplemental gammaglobulin
    3. Isohemagglutinins ≥1:8
    4. Specific antibody production while off IVIG

  3. Engraftment at Day 100, Month 6, Year 2, Year 5 and Year 8 Post-HCT [ Time Frame: From HCT to Month 6, Year 2, Year 5 and Year 8 Post-HCT ]

    Whole-blood engraftment and engraftment in T-, B-, or Natural Killer (NK)-cell subsets will be assessed.

    For whole blood and subsets*, the following engraftment criteria will be used:

    • < 5% donor = autologous reconstitution
    • 5-80% donor = mixed chimerism
    • ≥ 80% donor = full chimerism

      • Subsets:

        • CD3
        • CD19
        • CD14 and/or CD15 (myeloid cells)
        • CD3- CD56+ NK cells

    Outcome analysis restricted to participants with hematopoietic (stem) cell transplantation (HCT) intervention.


  4. Time to Resolution of Infections Diagnosed Prior to HCT [ Time Frame: Through study completion, up to 8 years post-HCT ]

    Time to resolution of any "pre-HCT" infections-bacterial, viral or fungal. Participants who are alive without resolving their pre-HCT infections will be considered censored at last contact.

    Resolution of pre-existing infection defined by:

    • Participant being clinically well,
    • Participant off treatment for infection(s), and/or
    • Negative culture/PCR assay.

    Outcome analysis restricted to participants with pre-hematopoietic (stem) cell transplantation (HCT) opportunistic infections.


  5. Incidence of New Infections Post-HCT [ Time Frame: From HCT to Day 100, Month 6, Year 1, Year 2, Year 5, and Year 8 post-HCT ]

    The occurrence of new documented bacterial, viral, or fungal infections-by site of disease, organism, date of onset, and resolution- post-HCT.

    Participants who are alive without infection will be considered censored at last contact.

    Outcome analysis restricted to participants with hematopoietic (stem) cell transplantation (HCT).


  6. Proportion of Participants Achieving Normal Nutritional Status Post-HCT [ Time Frame: Baseline (Pre-HCT) to Year 1, Year 2, Year 5 and Year 8 Post-HCT ]

    Normal nutrition status defined by:

    • Absence of chronic diarrhea and/or
    • No longer requiring supplemental nutrition (i.e., tube feeding or TPN).

      • TPN: total parenteral nutrition

    Outcome analysis restricted to participants with hematopoietic (stem) cell transplantation (HCT) intervention.


  7. Longitudinal Analysis: Growth Percentile in Body Height [ Time Frame: Baseline (Pre-HCT), Year 1, Year 2, Year 5 and Year 8 Post-HCT ]
    Participant's height will be superimposed against gender specific standard growth charts.

  8. Longitudinal Analysis: Growth Percentile in Body Weight [ Time Frame: Baseline (Pre-HCT), Year 1, Year 2, Year 5 and Year 8 Post-HCT ]
    Participant's weight will be superimposed against gender specific standard growth charts.

  9. Incidence of Acute Graft Versus Host Disease (GVHD) Post-HCT [ Time Frame: From HCT to Day 100 and Month 6 post-HCT ]

    Occurrence of acute GVHD. Any skin, gastrointestinal or liver abnormalities fulfilling the consensus criteria of Grades II-IV acute GVHD or grades III-IV acute GVHD are considered events.

    Participants alive without acute GVHD will be censored at the time of last follow-up.

    Outcome analysis restricted to participants with hematopoietic (stem) cell transplantation (HCT) intervention.


  10. Incidence of Chronic Graft Versus Host Disease (GVHD) Post-HCT [ Time Frame: From HCT to Month 6, Year 1,Year 2, Year 5 and Year 8 Post-HCT ]

    Occurrence of chronic GVHD in any organ system fulfilling the criteria of limited or extensive chronic GVHD. Participants alive without chronic GVHD will be censored at time of last follow-up.

    Outcome analysis restricted to participants with hematopoietic (stem) cell transplantation (HCT).


  11. Incidence of Autoimmunity Requiring Treatment by Stratum- Month 6, Year 2, Year 5 and Year 8 Post-SCID Treatment [ Time Frame: From SCID Treatment (HCT, ERT or GT) to Month 6, Year 2, Year 5 and Year 8 Post-SCID Treatment ]

    Occurrence of autoimmunity requiring treatment with immunosuppression or other therapy. Participants alive without autoimmunity will be censored at time of last follow-up.

    Date of onset and type of treatment will be collected on:

    • Autoimmune hypothyroidism
    • Autoimmune cytopenia (hemolytic anemia, thrombocytopenia, neutropenia)
    • Arthritis
    • Myositis
    • Nephritis
    • Bronchiolitis obliterans or other pulmonary autoimmune disease
    • Vitiligo
    • Alopecia
    • Inflammatory bowel disease
    • Neurodegeneration
    • Vasculitis

  12. Infant Neurocognitive Development By Stratum Measured by Bayley's Scales for Infant Development 3rd edition (BSID-III-R) [ Time Frame: Baseline (Pre-SCID Treatment-HCT, ERT or GT),Year 1, Year 2, Year 4, Year 5 and Year 8 Post-SCID Treatment ]
    Infant development as measured by Bayley's scales for infant development 3rd edition (BSID-III-R, Bayley, 2006).] The BSID III-R is a standardized developmental exam that is normalized to the age of the child in months. The mean adjusted score is 100 with a standard deviation of 15 (higher being better). Evaluation conducted as per standard of care in participants ≤30 months of age.

  13. Neurocognitive Development By Stratum Measured by Vineland Adaptive Behavior Scales, Second Edition (Vineland II) [ Time Frame: Baseline (Pre-SCID Treatment-HCT, ERT or GT),Year 1, Year 2, Year 4, Year 5 and Year 8 Post-SCID Treatment ]

    The Vineland II measures the personal and social skills of individuals from birth through adulthood. Since adaptive behavior refers to an individual's typical performance of the day-to-day activities required for personal and social sufficiency, these scales assess what a person actually does, rather than what he or she is able to do.

    Summary: The Vineland II is a measure of adaptive behavior in children, adolescents and adults. It yields an overall standard score (Adaptive Behavior Composite, ABC) and age standard scores in four domains: Communication, Daily Living Skills, Motor Skills, and Maladaptive Behaviour Index.

    ABC scores have a mean of 100 and a standard deviation of 15 (range = 20 to 160). Higher scores suggest a higher level of adaptive functioning. A rise in standard scores from Baseline indicates improvement.

    Evaluation as per standard of care.


  14. Neurocognitive Development By Stratum Measured by Wechsler Preschool and Primary Intelligence Scale of Intelligence, Third Edition (WPPSI III) [ Time Frame: Baseline (Pre-SCID Treatment-HCT, ERT or GT),Year 1, Year 2, Year 4, Year 5 and Year 8 Post-SCID Treatment ]

    Cognitive ability assessed using the WPPSI III. The WPPSI-III has been developed and standardized for children ages 2 years, 6 months through 7 years, 3 months of age. The WPPSI-III yields a Verbal Score, a Performance Score, a General Language Score, and a Full Scale Score. These scores have a mean of 100 and a standard deviation of 15. The range of possible values is 50 (worst value) to 150 (best value).

    Evaluation as per standard of care.


  15. Neurocognitive Assessment by Stratum Using the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) [ Time Frame: Baseline (Pre-SCID Treatment-HCT, ERT or GT),Year 1, Year 2, Year 4, Year 5 and Year 8 Post-SCID Treatment ]
    The WISC-IV is designed for children 6 years 0 months to 16 years 11 months. The Full Scale IQ, ranges from 45 to 155 with a mean of 100 and standard deviation of 15. Higher scores indicate stronger cognitive function. Scores between 90 and 110 are considered to be within the range of average IQ. Evaluation in accordance with standard of care, participant ages 6 years and above.

  16. Incidence of Complications of HCT Requiring Treatment [ Time Frame: From HCT to Month 6, Year 1,Year 2, Year 5 and Year 8 Post-HCT ]

    Occurrence of health event(s) classified as an HCT treatment complication, including but not limited to:

    • Veno-occlusive disease
    • Thrombotic thrombocytopenic purpura
    • Bronchiolitis obliterans / chronic lung disease
    • Seizures
    • Hypertension

    Outcome analysis restricted to participants with hematopoietic (stem) cell transplantation (HCT) intervention.


  17. Comparison of Quality of Life (QOL) By Stratum Prior to and After SCID Treatment: Scores for Pediatric Quality of Life Questionnaire (Peds-QL) [ Time Frame: Baseline (Pre-SCID Treatment-HCT, ERT or GT) to Year 1, Year 2, Year 4, Year 5 and Year 8 Post-SCID Treatment ]
    The Peds-QL is a generic Health-Related Quality of Life (HR QoL) instrument designed specifically for a pediatric population. It captures the following domains: general health/activities, feelings/emotional, social functioning, school functioning. Higher scores indicate better quality of life (QOL) for all domains of the Peds-QL. This modular instrument uses a 5-point scale: from 0 (never) to 4 (almost always). Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. 4 dimensions (physical, emotional, social, & school functioning) are scored.


Biospecimen Retention:   Samples With DNA
Peripheral blood samples, tissue, and bone marrow samples collected during participation in this study.


Information from the National Library of Medicine

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, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with SCID spectrum disorders that have undergone diagnostic workup per local center practice and referred for enrollment in this natural history study at one of the participating institutions (clinical research site locations).
Criteria

Inclusion Criteria:

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:

  • Generalized skin rash
  • Maternal lymphocytes tested for and not detected;

    --Note: If maternal engraftment was not assessed and ruled out, the subject is not eligible as Omenn Syndrome.

  • ≥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 <2 years of age);
  • Absent or low (< 30% lower limit of normal) T cell proliferation response to antigens (Candida, tetanus) to which the subject has been exposed

NOTE: If 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 (*) below are present, the subject is eligible as Omenn Syndrome:

  • Hepatomegaly
  • Splenomegaly
  • Lymphadenopathy
  • Elevated IgE
  • Elevated absolute eosinophil count
  • *Oligoclonal T cells measured by CDR3 length or flow cytometry
  • *Proliferation to PHA is reduced <50% of lower limit of normal or SI <30
  • *Hypomorphic mutation in a SCID causing gene
  • Low TRECS and/or the percentage of CD4+/45RA+/CD31+ or CD4+/45RA+/CD62L+ cells is below the lower limit of normal.

Reticular Dysgenesis:

  • Absence or very low number of T cells (CD3 <300/µL
  • No or very low (<10% lower limit of normal) T cell response to PHA
  • Severe neutropenia (absolute neutrophil count < 200 /µL) AND
  • ≥2 of the following (a,b,c):

    • a.) Sensori-neural deafness
    • b.) Deficiency of marrow granulopoiesis on bone marrow examination
    • c.) A pathogenic mutation in the adenylate kinase 2 (AK2) gene identified.

Stratum C:

Subjects who meet the following criteria and the intention is to treat with therapy other than allogeneic HCT, primarily PEG-ADA ERT or gene therapy with autologous modified (gene transduced) cells, are eligible for enrollment into

Stratum C:

  • ADA Deficient SCID with intention to treat with PEG-ADA ERT
  • ADA Deficient SCID with intention to treat with gene therapy
  • X-linked SCID with intention to treat with gene therapy
  • Any SCID patient previously treated with a thymus transplant (includes intention to treat with HCT, as well as PEG-ADA ERT or gene therapy)
  • Any SCID patient who received therapy for SCID deemed "non-standard" or "investigational", including in utero procedures.

Exclusion Criteria:

-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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01186913


  Hide Study Locations
Locations
United States, Alabama
University of Alabama at Birmingham Recruiting
Birmingham, Alabama, United States, 35233
Contact: Fredrick Goldman, MD    205-939-9285    fgoldman@peds.uab.edu   
Principal Investigator: Fredrick Goldman, MD         
United States, Arizona
Phoenix Children's Hospital Recruiting
Phoenix, Arizona, United States, 85016
Contact: Holly Miller, MD    602-933-0920    hmiller2@phoenixchildrens.com   
Principal Investigator: Holly Miller, MD         
United States, California
Children's Hospital Los Angeles Recruiting
Los Angeles, California, United States, 90027
Contact: Renna Killen, RN    323-361-2217    rkillen@chla.usc.edu   
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    TBMoore@mednet.ucla.edu   
Principal Investigator: Theodore Moore, MD         
Lucile Salter Packard Children's Hospital at Stanford Recruiting
Palo Alto, California, United States, 94304
Contact: Ami Shah, MD    310-825-6708    ashah5@stanford.edu   
Principal Investigator: Ami Shah, MD         
University of California San Francisco Children's Hospital Recruiting
San Francisco, California, United States, 94143-1278
Contact: Elizabeth Dunn, MA    415-502-0203    Elizabeth.Dunn@ucsf.edu   
Principal Investigator: Christopher C. Dvorak, MD         
United States, Colorado
Children's Hospital Denver Recruiting
Denver, Colorado, United States, 80220
Contact: Hesham Eissa, MD    720-777-5179    Hesham.Eissa@childrenscolorado.org   
Principal Investigator: Hesham Eissa, MD         
United States, Delaware
Alfred I. duPont Hospital for Children/Nemours Recruiting
Wilmington, Delaware, United States, 19803
Contact: Emi Caywood, MD    302-651-5500    Emi.caywood@nemours.org   
Principal Investigator: Emi H. Caywood, MD         
United States, District of Columbia
Children's National Medical Center Recruiting
Washington, District of Columbia, United States, 20010-2970
Contact: Blachy J. Dávila Saldaña, MD    202-476-4561    Bjdavilas1@childrensnational.org   
Principal Investigator: Blachy J. Dávila Saldaña, MD         
United States, Florida
Johns Hopkins All Children's Hospital Recruiting
Saint Petersburg, Florida, United States, 33701
Contact: Gauri Sunkersett, MD    727-767-3513    GSunker1@jhmi.edu   
Principal Investigator: Gauri Sunkersett, MD         
United States, Georgia
Children's Healthcare of Atlanta/Emory University School of Medicine Recruiting
Atlanta, Georgia, United States, 30322
Contact: Shanmuganathan Chandrakasan, MD    404-727-8877    shanmuganathan.chandrakasan@emory.edu   
Principal Investigator: Shanmuganathan Chandrakasan, MD         
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60614
Contact: Sonali Chaudury, MD    773-880-8153    schaudhury@luriechildrens.org   
Principal Investigator: Sonali Chaudury, MD         
United States, Louisiana
Children's Hospital/Louisiana State University Health Sciences Center Recruiting
New Orleans, Louisiana, United States, 70118
Contact: Lolie Yu, MD, MPH    504-896-9740    lyu@lsuhsc.edu   
Principal Investigator: Lolie Yu, MD, MPH         
United States, Maryland
NIH Clinical Center Genetic Immunotherapy Section Recruiting
Bethesda, Maryland, United States, 20892
Contact: Harry Malech, MD    301-480-6916    hmalech@mail.nih.gov   
Principal Investigator: Harry Malech, MD         
United States, Massachusetts
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Sung-Yun Pai, MD    617-919-2508    sung-yun.pai@childrens.harvard.edu   
Principal Investigator: Sung-Yun Pai, MD         
United States, Michigan
University of Michigan Health System Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Mark Vander Lugt, MD    734-936-9814    marvande@med.umich.edu   
Principal Investigator: Mark Vander Lugt, MD         
United States, Minnesota
University of Minnesota Medical Center Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Angela Smith, MD    612-626-2778    smith719@umn.edu   
Principal Investigator: Angela Smith, MD         
Mayo Clinic Hospital Recruiting
Rochester, Minnesota, United States, 55905
Contact: Avni Joshi, MD    507-538-0127    Joshi.Avni@mayo.edu   
Principal Investigator: Avni Joshi, MD         
United States, Missouri
Cardinal Glennon Children's Medical Center Recruiting
Saint Louis, Missouri, United States, 63104
Contact: Barbara Kariuki    314-268-2700 ext 3513    barbara.kariuki@health.slu.edu   
Principal Investigator: Alan Knutsen, MD         
Washington University St Louis Children's Hospital Recruiting
Saint Louis, Missouri, United States, 63110
Contact: Shalini Shenoy, MD    314-454-6018    shenoy@wustl.edu   
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    AGillio@HackensackUMC.org   
Principal Investigator: Alfred Gillio, MD         
United States, New York
Memorial Sloan-Kettering Cancer Center Recruiting
New York, New York, United States, 10065
Contact: Richard J O'Reilly    646-888-2157    oreillyr@mskc.org   
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 R. Andolina, MD    585-276-3229    Jeffrey_andolina@urmc.rochester.edu   
Principal Investigator: Jeffrey R. Andolina, MD         
New York Medical College, Maria Fareri Children's Hospital Recruiting
Valhalla, New York, United States, 10595
Contact: Allyson Flower, MD    914-493-7997    Allyson_flower@nymc.edu   
Principal Investigator: Allyson Flower, MD         
United States, North Carolina
Duke University Recruiting
Durham, North Carolina, United States, 27710
Contact: Rebecca H. Buckley, MD    919-684-2922    buckl003@mc.duke.edu   
Principal Investigator: Rebecca H. Buckley, MD         
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Sharat Chandra, MD    513-636-5917    Sharat.Chandra@cchmc.org   
Principal Investigator: Sharat Chandra, MD         
University Hospitals-Rainbow Babies and Children's Hospital Recruiting
Cleveland, Ohio, United States, 44106
Contact: Jignesh Dalal, MD    216-844-3345    Jignesh.Dalal@UHhospitals.org   
Principal Investigator: Jignesh Dalal, MD         
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Rolla Abu-Arja, MD    614-722-3582    Rolla.abu-arja@nationwidechildrens.org   
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    Shereck@ohsu.edu   
Principal Investigator: Evan Shereck, MD         
United States, Pennsylvania
The Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Jennifer Heimall, MD    215-590-2549    heimallj@email.chop.edu   
Principal Investigator: Jennifer Heimall, MD         
Children's Hospital of Pittsburgh of UPMC Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Jessie Barnum, MD    412-692-7035    jessie.barnum@chp.edu   
Principal Investigator: Jessie Barnum, MD         
United States, Tennessee
St. Jude Children's Research Hospital Recruiting
Memphis, Tennessee, United States, 38105
Contact: Ewelina K. Mamcarz, MD    901-595-8343    ewelina.mamcarz@stjude.org   
Principal Investigator: Ewelina K. Mamcarz, 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    214-456-2382    victor.aquino@utsouthwestern.edu   
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    cdmcmull@texaschildrens.org   
Principal Investigator: Lisa Forbes Satter, MD         
Methodist Children's Hospital of South Texas/Texas Transplant Institute Recruiting
San Antonio, Texas, United States, 78229
Contact: Troy Quigg, DO    210-575-7348    Troy.Quigg@MHShealth.com   
Principal Investigator: Troy Quigg, DO         
United States, Utah
Primary Children's Medical Center/University of Utah Recruiting
Salt Lake City, Utah, United States, 84113
Contact: David Shyr, MD    801-662-4736    David.Shyr@hsc.utah.edu   
Principal Investigator: David Shyr, MD         
United States, Washington
Seattle Children's Research Institute Recruiting
Seattle, Washington, United States, 98101
Contact: Lauri M. Burroughs, MD    206-667-2396    lburroug@fhcrc.org   
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    kbdesantes@pediatrics.wisc.edu   
Principal Investigator: Kenneth DeSantes, MD         
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226-4874
Contact: Julie An M Talano, MD    414-456-4170    jtalano@mcw.edu   
Principal Investigator: Julie An M Talano, MD         
Canada, Alberta
Alberta Children's Hospital Not yet recruiting
Calgary, Alberta, Canada, T3B 6A8
Contact: Nicola Wright, MD    403-955-3035    Nicola.Wright@albertahealthservices.ca   
Principal Investigator: Nicola Wright, MD         
Canada, British Columbia
British Columbia Children's Hospital Recruiting
Vancouver, British Columbia, Canada, V6H 3V4
Contact: Jacob Rozmus, PhD,MD    604-875-2454    jrozmus@cw.bc.ca   
Principal Investigator: Jacob Rozmus, PhD,MD         
Canada, Manitoba
Cancer Care Manitoba Recruiting
Winnipeg, Manitoba, Canada, R3E 0V9
Contact: Geoff Cuvelier, MD    204-787-8689    geoff.cuvelier@cancercare.mb.ca   
Principal Investigator: Geoff Cuvelier, MD         
Canada, Ontario
The Hospital for Sick Children Not yet recruiting
Toronto, Ontario, Canada, M5G 1XB
Contact: Eyal Grunebaum, MD    416-813-7654 ext 201320    Eyal.Grunebaum@sickkids.ca   
Principal Investigator: Eyal Grunebaum, MD         
Canada, Quebec
CHU Sainte-Justine Recruiting
Montreal, Quebec, Canada, H3T 1C5
Contact: Elie Haddad, MD,PhD    514-345-4931 ext 6217    elie.haddad@umontreal.ca   
Principal Investigator: Elie Haddad, MD,PhD         
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Rare Diseases Clinical Research Network
Primary Immune Deficiency Treatment Consortium (PIDTC)
Investigators
Principal Investigator: Christopher C. Dvorak, MD UCSF Children's Hospital
Principal Investigator: Morton J. Cowan, MD UCSF Children's Hospital

Additional Information:
Publications of Results:

Other Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID)
ClinicalTrials.gov Identifier: NCT01186913     History of Changes
Obsolete Identifiers: NCT02108067
Other Study ID Numbers: DAIT RDCRN PIDTC-6901
First Posted: August 23, 2010    Key Record Dates
Last Update Posted: November 21, 2018
Last Verified: November 2018

Keywords provided by National Institute of Allergy and Infectious Diseases (NIAID):
Severe Combined Immunodeficiency (SCID)
natural history study
SCID treatment

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Severe Combined Immunodeficiency
Immune System Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases