Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
INCLUSION CRITERIA FOR COHORT 1:
- Subject and/or parent guardian must be able to understand and provide informed consent.
- Determined by the enrolling center to be scheduled to undergo HCT or GT within one year of enrollment.
- CGD defined by:
- Defective neutrophil NADPH oxidase function (see Section 3.8.1 and Appendix I for definitions of defective NADPH oxidase function). (See Note 1, below);
- 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, or Northern Blot, or flow cytometry;
- Mutation in a gene encoding one of the 5 phox components (gp91phox, p47phox, p22phox, p67phox, and p40phox) or a mutation in CYBC1/EROS of the NADPH oxidase that is predictive of a decreased or absent oxidative burst (nonsense, frameshift, or previously described missense mutation associated with CGD).
Note 1: Quantitation of DHR status will be collected at enrollment, if available. Classification of DHR status, oxidase null vs. oxidase positive, is not required at the time of review for eligibility. Further details regarding these eligibility criteria are available in Appendix I of this protocol.
INCLUSION CRITERIA FOR COHORT 2:
- Subject and/or parent guardian must be able to understand and provide informed consent.
- CGD patients enrolled on the prospective or retrospective arm of PIDTC 6903 who have undergone HCT, with Day 0 on January 1, 2014 forward, and are still alive.
Note: Protocol 6903included only patients who received HCT; it did not include any patients who had received GT. PIDTC Protocol 6903 opened to enrollment during 2014.
INCLUSION CRITERIA FOR COHORT 3:
- Subject and/or parent guardian must be able to understand and provide informed consent.
- CGD patients who received HCT or GT at a PIDTC center, with Day 0 on January 1, 2014 forward, but were not enrolled on PIDTC Protocol #6903, and are still alive.
- Diagnosis of CGD defined as in Section 4.2.1 above.
Note: Cohort 3 includes those receiving HCT or GT at a PIDTC center, with Day 0 from January 1, 2014 forward. This date was selected to provide comparability to the composition of Cohort 2, patients previously enrolled on PIDTC Protocol #6903.
EXCLUSION CRITERIA:
- Inability or unwillingness of a participant or participant’s parent or legal guardian (as applicable) to give written informed consent or comply with study protocol.
- Presence of other primary immunodeficiency syndromes that do not meet the clinical and laboratory criteria for CGD including but not limited to: Rac2 deficiency, MPO deficiency, Glutathione deficiency, Leukocyte adhesion deficiency syndrome.
- Presence of HIV infection by Western blot if > 18 months and by PCR if < 18 months age at time of testing or other cause of secondary immunodeficiency.
- Past or current medical problems or findings from physical examination or laboratory testing that are not listed above which, in the opinion of the investigator, may pose additional risks from participation in the study, may interfere with the participant’s ability to comply with study requirements or that may impact the quality or interpretation of the data obtained from the study.
Note: Other protocol defined Inclusion/Exclusion Criteria may apply.
Eligibility last updated 2/22/2024. Questions regarding updates should be directed to the study team contact.