Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995
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.
This multi-center study combines a longitudinal and cross-sectional evaluation (both retro 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
|Study Design:||Observational Model: Case Control|
|Official Title:||Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995|
- Death [ Time Frame: HCT to date of death, up to an expected average of 3 years ] [ Designated as safety issue: Yes ]The event analyzed is death from any cause. The time from HCT to death or last follow up will be analyzed. Cause of death will also be collected. Surviving patients will be censored at the time of last observation.
- Engraftment [ Time Frame: an expected average of 3 years ] [ Designated as safety issue: No ]Engraftment will be measures in whole blood using either fluorescent in situ hybridization (FISH) for sex chromosomes or short tandem repeat PCR (STRs) in whole blood.
- Quality of Life Measures [ Time Frame: an expected average of 3 years ] [ Designated as safety issue: No ]
Age appropriate testing will be performed at the cross-sectional visit in patients surviving at least two years posttransplant:
- Peds QL Family Impact Module, Parent Report
- Peds QL Infant Scales Module (ages 1-24 months), Parent Report
- Peds QL Generic Core Scales for Toddlers (ages 2-4 yr), Parent Report
- Peds QL Generic Core Scales (ages 5-25 yr), Child/Parent Reports
- Peds QL Transplant Module
- SF-36 (adult)
- FACT BMT (adult)
- Infections [ Time Frame: an expected average of 3 years ] [ Designated as safety issue: Yes ]CGD or transplant-related and transplant-related infection
- Autoimmune or inflammatory complications [ Time Frame: an expected average of 3 years ] [ Designated as safety issue: Yes ]- For HCT subjects, inflammation (inflammatory complications) includes chronic GVHD
Biospecimen Retention: Samples With DNA
Peripheral blood, skin swabs and/or stool samples
|Study Start Date:||June 2014|
|Estimated Study Completion Date:||August 2019|
|Estimated Primary Completion Date:||August 2019 (Final data collection date for primary outcome measure)|
|Longitudinal analysis: Retrospective CGD Cohort|
|Longitudinal analysis: Prospective CGD Cohort|
|Cross-sectional Analysis: HCT CGD Cohort|
|Longitudinal Analysis: Conventional Non-Transplant CGD Cohort|
Please refer to this study by its ClinicalTrials.gov identifier: NCT02082353
Show 29 Study Locations
|Principal Investigator:||Elizabeth M. Kang, MD||National Institute of Allergy and Infectious Diseases (NIAID)|
|Principal Investigator:||Harry L Malech, MD||National Institute of Allergy and Infectious Diseases (NIAID)|
|Principal Investigator:||Luigi D Notarangelo, MD||Children's Hospital Boston|