Treatment Barriers for Pediatric and Adult Patients with Chronic Granulomatous Disease

Le résumé fourni par la source

Introduction The lifespan of patients with chronic granulomatous disease (CGD) has increased with the use of prophylactic medications. Despite a reduction in infections, however, patients rely on lifelong medications and remain at risk of severe infections and immune dysregulation. While hematopoietic stem cell transplantation (HSCT) and gene therapy now offer curative options with improved safety profiles, barriers to accessing these definitive therapies remain poorly characterized. Objective This study aimed to determine the rates of prophylactic and definitive treatment therapies in pediatric and adult patients with CGD and identify barriers to their implementation. Methods We conducted an IRB-approved cross-sectional survey study of 76 CGD patients (41 adults and 35 children). Participants were recruited through national patient advocacy organizations (Immune Deficiency Foundation and CGD Association of America) and an academic immunology center in Northern California. The survey, created with input from AAAAI PID committee, patients, and advocates, assessed treatment history, healthcare experiences, and perceived barriers to care. Descriptive statistics and chi-square analyses were performed. Results Mean ages were 12 years (pediatric) and 40 years (adult). Notably, 15.5% (n = 11) of patients lacked antimicrobial prophylaxis, and 32.9% (n = 25) had never received IFNg therapy, with 48% (n = 12) reporting no provider discussion. Only 17.3% (n = 13) of participants had undergone HSCT, predominantly children (69.2%, n = 9). Among the non-transplanted subjects, 68.3% (n = 43) had never received transplant specialist consultation. Despite the limited racial and ethnic diversity, 43% (7/16) of non-white participants considered HSCT unlikely for them. Primary barriers included physician expertise (32.0%), cost (28.0%), and equally distributed factors (12% each), including lack of information, geographic distance, physical limitations, and medication side effects. Conclusion Despite advances in HSCT safety and efficacy, significant disparities exist in accessing definitive therapy for CGD, particularly among adults and racial/ethnic minorities. Identified barriers suggest the need for improved provider education, healthcare navigation support, and targeted interventions to address demographic disparities. Future research should focus on developing systematic approaches to expand access to transplant evaluation and address socioeconomic barriers to definitive therapy.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.