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

What this Trial Is About

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. It is a rare disease with a birth incidence of about one in every 3000 individuals and a prevalence of one case every 3000 to 6000 people. Patients with NF1 experience wide-ranging symptoms that can vary greatly with age, including skin spots, nerve tumors called neurofibromas, and other complications. This condition can affect quality of life and has unpredictable clinical outcomes. The trial aims to collect real-world data on the natural history, clinical features, and treatment patterns of NF1 in Egypt, where these aspects are not well documented. This observational study will gather information on both pediatric and adult patients diagnosed with NF1, with or without plexiform neurofibromas (PNs), over the past 14 years. The study focuses on understanding how often NF1 and PN occur, how the disease progresses, and how patients are managed in routine clinical care. Data will be collected from existing medical records and clinical histories to provide a comprehensive overview of NF1 in this population. Participants will be observed through their medical records spanning up to 13 years, including demographic details, clinical characteristics, treatment approaches, and disease progression. The main measure is the prevalence of NF1 with PN over this period. Additional outcomes include patient demographics, clinical features, management methods, and progression patterns. This registry-based study does not involve interventions but aims to improve understanding of NF1's impact and management in Egypt.

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