Prevalence, Clinical Characteristics, Progression, and Management of Neurofibromatosis Type 1 in Egypt (NF1-Egy)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Neurofibromatosis Type 1. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Egypt
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
Neurofibromatosis type 1 (NF1), a genetic disorder, results from NF1 gene mutations with nearly complete penetrance (1). NF1 is considered common as a rare disease; it has a birth incidence of approximately one every 3000 and a prevalence of one case every 3000-6000 individuals. Patients with NF1 present lifelong phenotypic variabilities, including those mentioned in the National Institutes of Health (NIH) diagnostic criteria: multiple cafe-au-lait macules, freckling, Lisch nodules, cutaneous neurofibromas, plexiform neurofibromas (PNs), optic pathway gliomas (OPG), and osseous lesions (1). Regarding PNs, they are present in about 30-50% of NF1 patients with deeper growth along internal nerve plexus cranial or large peripheral nerve sheaths, compared to cutaneous neurofibromas. NF1 clinical expression is unpredictable, age-related, and varies among patients; additionally, as a tumor predisposition disorder, it is associated with neoplastic complications that impair health-related quality of life (QoL). Thus, it is essential to gather data about the natural history of the disease to understand its burden on patients with NF1 and those who develop PN. Besides that, NF1 prevalence and patients' clinical characteristics are not well recognized in Egypt, and full surgical resection of PN is often challenging due to its invasive nature, location, and size. Accordingly, this is a disease registry to collect data about patients with NF1, both pediatrics and adults. And to understand the natural history of this disorder in Egypt over the past 14 years in real-world settings. For patients with NF1, with or without PNs, we aim to understand their treatment patterns and explore clinical and nonclinical factors influencing targeted outcomes.
Primary outcome measures
- Prevalence of patients with Neurofibromatosis type 1-Plexiform Neurofibromas [Time frame: 13 Years]
Secondary outcome measures (4)
- Demographics [Time frame: 13 Years]
- Clinical characteristics [Time frame: 13 Years]
- Patient management [Time frame: 13 Years]
- Patient progression [Time frame: 13 Years]
Eligibility criteria
Inclusion criteria
A. Male or female patients of any age at index date (first diagnosis of NF1 and/or PN).
B. Have been diagnosed with NF1 according to the NIH Consensus Development Conference diagnostic criteria or the revised criteria between 01-Jan- 2010 and 31-December-2023.
Exclusion criteria
A. Missing NF1 diagnosis data in their medical record.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Other
Study locations
Egypt · 9 centers
- Research Site — Al Mansurah
- Research Site — Alexandria
- Research Site — Aswān
- Research Site — Asyut
- Research Site — Cairo
- Research Site — Cairo
- Research Site — Sohag
- Research Site — Tanta
- … and 1 more center
Identifiers
NCT: NCT07221331 · D134BR00005