a study on Granulomatous Disease, Chronic
Chronic granulomatous disease (CGD) is an inherited immune system abnormality in which bone marrow transplantation 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 patients with CGD after a transplant and if possible, compare these results to patients who do not undergo a transplant.
Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995
This multi-center study combines a longitudinal and cross-sectional evaluation (both retrospectively and prospectively) of subjects with confirmed CGD who have already received hematopoietic cell transplant (HCT) since 1995 or who will receive HCT during the study period. This study will investigate which subjects benefit most from HCT, and the overall outcomes in CGD patients with and without transplant. The study aims to identify variables contributing to best outcomes of HCT in subjects with CGD.
Granulomatous Disease, Chronic Hematopoietic Stem Cell Transplantation
CGD Patients Undergoing Transplant 1995 to Present with Birth Year In or After 1988
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:
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:
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:
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.
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.
o Genetic sequencing reporting a mutation that is unequivocally associated to absent oxidase production. (e.g. null mutations) will be classified as oxidase-null CGD (See discussion in Appendix I for how family history,genotype and CGD mutation information will be applied to assigning patients lacking any quantitative oxidase activity measurements to residual oxidase-null or residual oxidase-positive groups).
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