Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995
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|ClinicalTrials.gov Identifier: NCT02082353|
Recruitment Status : Recruiting
First Posted : March 10, 2014
Last Update Posted : October 17, 2017
|Condition or disease|
|Granulomatous Disease, Chronic|
Chronic granulomatous disease (CGD) is an immune deficiency where the neutrophils (a type of white blood cell that kills bacteria and fungi) do no work properly. Some individuals with CGD have neutrophils that do not work at all, whereas others have neutrophils that work partially, but not normally. In the past (over 20 years ago), most individuals with CGD were managed with antibiotics and antifungal medications alone. As the science of blood and marrow transplant (BMT) improved, some with CGD started to receive a BMT. It remained controversial whether individuals with CGD should receive a BMT or medical management alone (antibiotics, antifungals, and other treatments that do not include BMT).
The aim of this natural history study is to better define the role of BMT compared to medical management of CGD. Specifically, what are the outcomes of BMT versus medical management alone, why do some individuals with CGD benefit from BMT, and what are the long-term outcomes of both approaches. Researchers are interested in how individuals with CGD who have no neutrophil function may differ from those with some neutrophil function, how the types of infections and inflammatory complications of CGD impact on survival and how BMT may improve these complications. There are also questions as to how the types of bacteria (called the microbiome) found in the gastrointestinal tract (colon, large intestine) of individuals with CGD influences certain inflammatory complications (such as colitis), and how BMT changes the microbiome in individuals with CGD. All of this will help doctors in the future to better treat patients with CGD.
This study includes a retrospective (looking back into the past), cross-sectional (one time collection of information and/or research testing) and a prospective (looking from today and into the future) component. These are known as longitudinal studies (e.g., looking at information of participants over time).
Persons with CGD who were born 1988 to the present day are eligible, regardless of whether they received a BMT (as long as the BMT was after 1995) or medical therapy only. Individuals who are newly diagnosed with CGD can also be enrolled and followed longitudinally (over time), to determine their outcome from the choice of therapy that is made. An important component of this study is the 'cross sectional' study, where participants with more than 3 years of follow-up after transplant or diagnosis are asked to provide additional research blood work, and information is gathered regarding long-term transplant outcomes such as infections, graft-versus-host disease, autoimmune diseases, and quality of life. In addition, the participants will be asked to provide stool samples to allow investigators to look at how certain bacteria found in the gut (called the microbiome) affect complications of CGD, such as gastrointestinal disease. This will allow primary immune deficiency investigators/doctors to better understand the outcomes of different therapeutic approaches and to best design new treatments and clinical trials in the future for children with CGD.
|Study Type :||Observational|
|Estimated Enrollment :||1480 participants|
|Official Title:||Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995|
|Study Start Date :||June 2014|
|Estimated Primary Completion Date :||August 2019|
|Estimated Study Completion Date :||August 2019|
Retrospective CGD Cohort
Prospective CGD Cohort
HCT CGD Cohort
Conventional Non-Transplant CGD Cohort
- Death [ Time Frame: HCT to date of death, up to an expected average of 3 years ]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 ]Engraftment will be measures in whole blood using either fluorescent in situ hybridization (FISH) for sex chromosomes or short tandem repeat polymerase chain reaction (PCR) or (STRs) in whole blood.
- Quality of Life Measures [ Time Frame: an expected average of 3 years ]
Age appropriate testing will be performed at the cross-sectional visit in patients surviving at least two years posttransplant:
- Pediatrics quality of life (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
- Standard Form (SF)-36 (adult)
- Functional Assessment of Cancer Therapy-Bone Marrow Transplant (FACT BMT) (adult)
- Infections [ Time Frame: an expected average of 3 years ]CGD or transplant-related and transplant-related infection
- Autoimmune or inflammatory complications [ Time Frame: an expected average of 3 years ]- For HCT subjects, inflammation (inflammatory complications) includes chronic graft-versus-host disease (GVHD)
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02082353
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|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)|