Elemental Diet for Treatment of Inflammatory Bowel Disease in Patients With Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare genetic immune disorder that results in recurrent and severe infections, and inflammatory dysregulation. For almost 50% of patients with CGD, this inflammation causes severe inflammatory bowel disease (IBD). However, treatment is long term and challenging as CGD-IBD is prone to relapse, and use of immune modulators must be balanced with increased risk of infectious complications. Conventional IBD (Crohn disease and ulcerative colitis) is likely caused by an inappropriate inflammatory response to intestinal microbes, which is influenced by the environment in a genetically susceptible host. While it is not yet clear if intestinal dysbiosis is a result or cause of intestinal inflammation, studies suggest that correcting intestinal dysbiosis may improve intestinal inflammation. Studies in patients with conventional IBD suggest that strict dietary restrictions can resolve symptoms of IBD and induce remission as effectively as glucocorticoids but without the side effects of those drugs. Because these diets alter the gut microbiome, they may serve as effective treatment for CGD-IBD.

In this study, we propose to treat 5 patients >= 8 years old who have CGD and IBD with 4 weeks of an elemental diet. Participants will stay as inpatients for up to 2 weeks and will return for follow-up at the end of the diet to begin tapering off and be reintroduced to normal food. The primary objective of this study is the evaluation of changes in the microbiome before and after the elemental diet. Secondary objectives are evaluations of tolerability and safety of the diet, along with changes in local and systemic markers of inflammation, and improvement of IBD symptoms as determined by reduction in Harvey-Bradshaw Index score.

• INCLUSION CRITERIA:

Individuals must meet all of the following criteria to be eligible for study participation:

• Aged 8-65 years.
• Have confirmed diagnoses of CGD, CGD-associated colitis, and IBD.
• Have a Simple Endoscopic Score for Crohn Disease (SES-CD) > 3 and/or HBI >= 5.
• Able to provide informed consent.
• Willing to allow storage of biological samples for future research.
• Willing to allow genetic testing on biological samples.
• Willing to be admitted as inpatient for up to 2 weeks to initiate the elemental diet.

Exclusion criteria

• Pregnancy.
• Active or ongoing infection that requires antibiotics other than the participant s known prophylaxis medications.
• Any condition that, in the opinion of the investigator, contraindicates participation in this study will be excluded from study participation.