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 patients 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 patients with CGD were managed with antibiotics and antifungal medications alone. As the science of blood and marrow transplant (BMT) improved, some patients with CGD started to receive a BMT. It remained controversial whether patients with CGD should receive a BMT or medical management alone (antibiotics, antifungals, and other treatments that do not include BMT). It appears that some patients clearly benefit from BMT whereas others may receive less benefit.
6903 is trying to better define what the role of BMT compared to medical management of CGD is. In particular, what are the outcomes of BMT versus medical management alone, why do some patients clearly benefit from BMT, and what are the long-term outcomes of both approaches. Researchers are interested in how CGD patients who have no neutrophil function may differ from CGD patients 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 CGD patients influences certain inflammatory complications (such as colitis), and how BMT changes the microbiome in CGD patients. All of this will help doctors in the future to better treat patients with CGD.
6903 enrolls patients who meet the criteria for diagnosis of CGD. Not only is 6903 enrolling patients from all North American PIDTC sites, 3 centers from Europe (London, Newcastle, Zurich) are also enrolling patients on this study. Speak to your doctor to see if you / your child are eligible. This is NOT a clinical research trial. There are NO experimental treatments and the study is not dictating how you / your child’s doctor should treat you. It is only asking for data around how well you / your child has done with whatever treatments your doctor feels are necessary for the best medical care of you / your child. The 6903 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 to the 6903 study. These are known as longitudinal studies i.e. they look at information of patient 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. Patients 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 6903 study is the ‘cross sectional’ study, where patients 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 6903 study will request stool samples from patients to look at how certain bacteria found in the gut (called the microbiome) affect complications of CGD such as gastrointestinal disease. This will allow PIDTC researchers 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.