Study of Neurofibromatosis Type 1 and Plexiform Neurofibromas in Egypt Tracking Patient Characteristics, Disease Progression, and Treatment Patterns

What this Trial Is About

Neurofibromatosis type 1 NF1 is a genetic disorder caused by mutations in the NF1 gene, affecting roughly 1 in every 3000 to 6000 individuals. Patients with NF1 experience a wide range of symptoms including skin spots, nodules on the eyes, and tumors like plexiform neurofibromas PNs that grow along nerve pathways. The condition varies greatly among patients, impacting quality of life and health due to its tumor-related complications. This study focuses on understanding the natural history, prevalence, and clinical features of NF1 in Egypt, where these aspects are not well documented. This research collects data on both pediatric and adult patients diagnosed with NF1 between 2010 and 2023, aiming to describe their clinical characteristics, treatment approaches, and disease progression. The study observes patients with or without plexiform neurofibromas to explore patterns in management and the factors influencing outcomes over a 14-year period in real-world settings. No experimental treatments are involved as this is an observational registry. Participants contribute information from their medical records to help researchers measure the prevalence of NF1 and associated plexiform neurofibromas, along with demographic details, clinical features, management strategies, and disease progression. The study spans 13 years of data collection and analysis. There is no active treatment or intervention instead, the focus is on monitoring and understanding the disease course and patient experiences in Egypt.

Prevalence, Clinical Characteristics, Progression, and Management of Neurofibromatosis Type 1 in Egypt (NF1-Egy)