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A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children With SCID Disorders (RDCRN PIDTC-6901)


N/A
N/A
N/A
Open (Enrolling)
Both
SCID, Leaky SCID, Omenn Syndrome, Reticular Dysgenesis, ADA Deficiency, XSCID

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Trial Information

A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children With SCID Disorders (RDCRN PIDTC-6901)


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

Type of Study:

Observational

Study Design:

Observational Model: Cohort, Time Perspective: Prospective

Outcome Measure:

Overall survival following HCT

Outcome Time Frame:

4 years

Safety Issue:

No

Principal Investigator

Rebecca Buckley, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Duke University School of Medicine

Authority:

United States: Federal Government

Study ID:

DAIT RDCRN PIDTC-6901

NCT ID:

NCT01186913

Start Date:

August 2010

Completion Date:

August 2015

Related Keywords:

  • SCID
  • Leaky SCID
  • Omenn Syndrome
  • Reticular Dysgenesis
  • ADA Deficiency
  • XSCID
  • Congenital Abnormalities
  • Severe Combined Immunodeficiency
  • Agammaglobulinemia
  • Leukopenia

Name

Location

Memorial Sloan-Kettering Cancer CenterNew York, New York  10021
Medical College of WisconsinMilwaukee, Wisconsin  53226
Stanford UniversityStanford, California  94305
Hackensack University Medical CenterHackensack, New Jersey  07601
Children's Hospital Los AngelesLos Angeles, California  90027-0700
Children's National Medical CenterWashington, District of Columbia  20010-2970
Cincinnati Children's Hospital Medical CenterCincinnati, Ohio  45229-3039
Duke UniversityDurham, North Carolina  27710
University of Alabama at BirminghamBirmingham, Alabama  35294-3300
Children's Hospital BostonBoston, Massachusetts  02115
Texas Children's HospitalHouston, Texas  
Children's Memorial HospitalChicago, Illinois  60614
University of California, Los AngelesLos Angeles, California  
Oregon Health and Science UniversityPortland, Oregon  97201
The Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania  19104
University of Minnesota Medical CenterMinneapolis, Minnesota  55455
University of Michigan Health SystemAnn Arbor, Michigan  
Cardinal Glennon Children's Medical CenterSt. Louis, Missouri  63104
University of California San Francisco Children's HospitalSan Francisco, California  94143
Children's Hospital DenverDenver, Colorado  80220
Children's Healthcare of Atlanta/Emory University School of MedicineAtlanta, Georgia  30322
Children's Hospital/Louisiana State University Health Sciences CenterNew Orleans, Louisiana  70118
NIH Clinical Center Genetic Immunotherapy SectionBethesda, Maryland  20892
Washington University St Louis Children's HospitalSt. Louis, Missouri  63110
University of Texas Southwestern Medical Center/Children's of DallasDallas, Texas  75390-9263
Methodist Children's Hospital of South Texas/Texas Transplant InstituteSan Antonio, Texas  78229
Primary Children's Medical Center/University of UtahSalt Lake City, Utah  84113
Seattle Children's Research InstituteSeattle, Washington  98101
All Children's Hospital, St. Petersburg FLSt. Petersburg, Florida  33701