Don’t forget to read Part 1 of our interview. In Part 1, we discussed what chronic granulomatous disease (CGD) is, how it is treated, and how parents and physicians can identify an immunodeficiency. Today, we discuss bone marrow transplantation, research into CGD (and its findings), and help for families in need.

Bone Marrow Transplantation

One long-term treatment option, which can cure CGD, is a bone marrow transplant. A bone marrow transplant infuses healthy, blood-forming cells into the body. As the bone marrow does not produce enough healthy cells in CGD, a bone marrow transplant can help improve immune health and function. While the safety of bone marrow transplants has improved over the years, Dr. Katz explains:

There are still some risks involved. While the mortality rate of bone marrow transplants for CGD is under 10%, it’s not yet at zero. It takes about a month to get rid of the unhealthy cells and put in or build up fresh bone marrow. So, it is possible for death to occur from infections before the new bone marrow takes hold or during the conditioning process. But when these transplants work, they work well.

So how do physicians – and Dr. Katz himself – determine when a child is a good candidate for a bone marrow transplant? This decision relies on a variety of factors. For example, a child must be otherwise relatively healthy. If they have a lot of end organ damage, they would not be a good candidate for bone marrow transplants. Rather, these children might be referred to a gene therapy clinical trial. Another factor is whether a good match is available. Some children may find an 80% match or a 100% match, but others may not have a matching donor.

Consider donating bone marrow to help those in need of a match. Learn more at BeTheMatch.

Advancing Research into Chronic Granulomatous Disease (CGD)

Medical research, particularly in the realm of rare diseases, is incredibly crucial – not only to better understanding the overall disease, but in discovering new ways to appropriately aid patients. As Dr. Katz explains:

Even if you don’t know the ultimate goal of the research, the more you know about something, the better you can figure out what to do. Research helps us to extend the lifespan for those with CGD – while it’s improved, it still isn’t normal – and gives me ways to better prevent infections, treat, and diagnose patients. In the end, research helps to find ways to give these children and young adults a ‘normal’ life.

Within the most recent research study, Dr. Katz and his team updated the large, single-center experience and described some newly recognized features of CGD. As described in this article’s introduction, the paper followed 26 patients over a six-year period. Of these patients, five were female. It is especially important to study CGD in females as the presentation and manifestation differ from that of males. These girls or women can be carriers and typically do not have many infectious symptoms. However, Dr. Katz explains that this new study has given more insight into the infections and other autoimmune complications of CGD that women and men face.

As for other findings, Dr. Katz shares:

One of the nicest findings was that the serious infection rate – or the rate of infections which require hospitalization or IV antibiotics – was significantly reduced from 0.62 per patient year to around 0.2 per patient year. Over the first 28 years of the research, there were also three patient deaths. However, there were no deaths in the last six years. This is great news for patients and it makes us feel good as well.

Additionally, four patients were evaluated for bone marrow transplantation and two of these were successfully transplanted in the last 6 years, highlighting an improvement in success. Dr. Katz explains that these improvements have hinged on two advances. First, induction regimens have been lightened. Next, doctors have begun more closely monitoring busulfan, used during the conditioning process. Through careful dose monitoring, doctors are able to avoid any associated toxicity while still contributing to successful treatment.

Additional Findings

Outside of the above findings, the study also found that:

• 74% of patients were maintained using triple prophylaxis. This includes interferon-gamma, antibacterial treatment, and antifungal treatment.
• There is a risk for contiguous gene syndromes. As the gene for CGD can be right next to other abnormal genes, there can be a risk for additional syndromes or health issues. So, if a patient is having a health issue that the doctor doesn’t fully understand, they can search for a potential genetic link.
• No new patients developed eosinophilic cystitis or CGD-related colitis. In the previous study, we reported that 38% of patients developed one of these conditions. However, none of the patients over the last six years developed these conditions.
• There is an increased need for ophthalmologic screenings. Katz explains that it’s easy to send patients to an ophthalmologist if they’re experiencing symptoms – but that there needs to be an emphasis on increased screenings in children with CGD. After screening 14 children, the research team found that three of them presented with either retinitis pigmentosa (RP) or chorioretinitis. Therefore, Dr. Katz recommends screening children with CGD once per year to provide the highest quality care.

Searching for Help

As many people know, being part of the rare disease community can sometimes feel frightening or isolating – especially if you are pursuing a diagnosis. Dr. Katz wants to remind people that they are not alone in this journey. More so, if you suspect that your child has CGD or another primary immunodeficiency, don’t be afraid to reach out for help. As Dr. Katz shares:

CGD is a rare disease. Pediatricians may not ever see a case of CGD. We tell people to look for failure to thrive, or rare or serious infections, and we’re here to help. If you suspect something, feel free to call us at Lurie Children’s Hospital. We’ll help you with the evaluation or we’ll do our best to find someone that can help you. We have children who come from far away, or who want to manage their condition in college, and we have the ability to help manage long-distance care. You don’t have to do this alone.