Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995

Status unconfirmed

Conditions studied: Granulomatous Disease, Chronic

In brief

Chronic granulomatous disease (CGD) is an inherited immune system abnormality in which bone marrow transplantation (BMT) has been shown to be curative. However the risks of transplantation are high and not all patients with CGD may need to undergo this high risk procedure. This study will determine the long term medical condition and daily functioning of participants with CGD after a transplant and if possible, compare these results to participants who do not undergo a transplant.

Key facts

Study ID

NCT02082353

Run by

National Institute of Allergy and Infectious Diseases (NIAID)

People needed

1480

Starts

2014-06-01

Expected to finish

2021-11-01

Last updated by the study team

2021-09-02

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Participant Inclusion Criteria (Part 1 - Longitudinal Analysis)
• CGD Patients Undergoing Transplant 1995 to Present with Birth Year In or After 1988
• CGD Patients will be Defined by both Defective Neutrophil NADPH Oxidase Function and by Clinical History Consistent with CGD
• Patients must have both of:
• A functional assay demonstrating abnormal NADPH oxidase function (see A below); AND Clinical history consistent with CGD (see B below).
• ************************************************************************
• Patients must have both "A" and "B":
• A. Function: Assays of NADPH Oxidase Function
• I. Dihydrorhodamine (DHR) Assay:
• Blood sample was obtained at a time when patient was clinically stable and not critically ill, with control samples performed simultaneously indicating a qualified assay; and
• Assay unequivocally demonstrates CGD with an stimulation index (SI) SI < 35 or equivalent. Assay report, including mean fluorescence intensity (MFI) from unstimulated and stimulated samples and gating strategy, must be de-identified and provided. OR
• II. Nitroblue Tetrazolium Oxidation Test (NBT):
• o Diagnostic of CGD (reported as reduced granulocyte oxidative response). Report must be de-identified and provided. AND
• B. Clinical History: One or More of the Following:
• Severe and/or recurrent infection (liver, perirectal or lung abscess; pneumonia; adenitis; or osteomyelitis) due to, for example, Staphylococcus aureus, Burkholderia sp, Serratia marcescens, non-albicans Candida sp, Aspergillus sp or other mold; or Nocardia sp or other deep tissue infection characteristic of CGD
• Sterile granulomatous disease in respiratory, gastrointestinal or urogenital tracts; or Crohn's disease-like colitis
• A family history consistent with either X-linked or autosomal recessive CGD
• In cases where either functional assay (A) or history (B) is equivocal, one or more of the following may be used to confirm a diagnosis of CGD:
• C. Absent or significantly reduced in expression or abnormal size of any of the 5 phox components (gp91 phox, p47 phox, p22 phox, p67phox, and p40phox) of NADPH oxidase, by either:
• Western blot
• Northern blot OR D. Mutation in a gene encoding one of the 5 phox components (gp91 phox, p47 phox, p22 phox, p67 phox, and p40 phox) of NADPH oxidase that is predictive of a decreased or absent oxidative burst. (Nonsense, frameshift, or previously described missense mutation associated with CGD).
• Molecular Diagnosis is Desirable In addition, molecular diagnosis (gene sequencing and expression analysis) of CGD is desirable and should be performed when possible.
• Further Characterization of Oxidase Level, Longitudinal Study, Prospective Cohort Patients who are to undergo transplantation during the study period must be further characterized as oxidase-null or oxidase positive by level of oxidase production by either:
• DHR assay stimulation Index: where SI ≤ 2.5 will be classified as oxidase-null CGD. Those with SI > 2.5 will be classified as oxidase positive CGD. A single validated test that is accepted by the PID-CGD Review Panel is adequate, but testing on two occasions for validation is desirable. OR
• Ferricytochrome C reduction assay of granulocytes with O2 < 2.3 nmoles /106 cells/h classified as oxidase-null CGD. A single validated test that is accepted by the PID-CGD Review Panel is adequate, but testing on two occasions for validation is desirable.

You may not qualify if…

• Participant Exclusion Criteria (Longitudinal and Cross- Sectional Analyses)
• Presence of other primary immunodeficiency syndromes that do not meet the clinical and laboratory criteria for CGD.
• Rac2 Deficiency
• Myeloperoxidase Deficiency (MPO Deficiency)
• Glutathione deficiency
• Leukocyte adhesion deficiency syndrome
• Non-transplant subjects:
• The above exclusions pertain.
• In addition, non-transplant subjects will be excluded if the only assessment of oxidase function available is the nitroblue tetrazolium (NBT) test (a non-quantitative test).

Where it is running

• University of Alabama at Birmingham — Birmingham, Alabama, United States
• Phoenix Children's Hospital — Phoenix, Arizona, United States
• Children's Hospital Los Angeles — Los Angeles, California, United States
• UCLA — Los Angeles, California, United States
• Lucile Salter Packard Children's Hospital at Stanford — Palo Alto, California, United States
• University of California (UCSF) Benioff Children's Hospital — San Francisco, California, United States
• Children's Hospital Colorado — Aurora, Colorado, United States
• Alfred I. duPont Hospital for Children/Nemours — Wilmington, Delaware, United States
• Children's National Medical Center, Washington DC — Washington D.C., District of Columbia, United States
• Johns Hopkins All Children's Hospital - St. Petersburg, FL — St. Petersburg, Florida, United States
• Children's Healthcare of Atlanta, Emory University — Atlanta, Georgia, United States
• Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States
• Children's Hospital of New Orleans at LSUHSC — New Orleans, Louisiana, United States
• NIH Clinical Center Genetic Immunotherapy Section — Bethesda, Maryland, United States
• Children's Hospital Boston — Boston, Massachusetts, United States
• University of Michigan Health System — Ann Arbor, Michigan, United States
• University of Minnesota Medical Center — Minneapolis, Minnesota, United States
• Mayo Clinic Hospital — Rochester, Minnesota, United States
• Cardinal Glennon Children's Hospital/ St. Louis University — St Louis, Missouri, United States
• Washington University/ St.Louis Children's Hospital — St Louis, Missouri, United States
• Hackensack University Medical Center — Hackensack, New Jersey, United States
• Memorial Sloan-kettering Cancer Center — New York, New York, United States
• University of Rochester Medical Center/ Golisano Children's Hospital — Rochester, New York, United States
• New York Medical College, Maria Fareri Children's Hospital — Valhalla, New York, United States
• Duke University — Durham, North Carolina, United States

Full record on ClinicalTrials.gov

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