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

NCT07221331 | Recruiting

• 1 other identifier: D134BR00005
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 9

Brief Summary

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.

Conditions

Neurofibromatosis Type 1

Outcome Measures

Primary Outcomes (1)

• Prevalence of patients with Neurofibromatosis type 1-Plexiform Neurofibromas

  Prevalence of patients with NF1-PN from total NF1 population.

  13 Years

Secondary Outcomes (4)

• Demographics

  13 Years

• Clinical characteristics

  13 Years

• Patient management

  13 Years

• Patient progression

  13 Years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients' records will be eligible for study inclusion if the NF1 diagnosis date is between 01-Jan-2010 and 31-Dec-2023.

You may qualify if:

• 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.

You may not qualify if:

• A. Missing NF1 diagnosis data in their medical record.

Sponsors & Collaborators

• AstraZeneca: lead

Study Sites (9)

Research Site

Al Mansurah, Egypt

RECRUITING

Research Site

Alexandria, Egypt

RECRUITING

Research Site

Aswān, Egypt

RECRUITING

Research Site

Asyut, Egypt

NOT YET RECRUITING

Research Site

Cairo, Egypt

RECRUITING

Research Site

Cairo, Egypt

NOT YET RECRUITING

Research Site

Sohag, Egypt

NOT YET RECRUITING

Research Site

Tanta, Egypt

RECRUITING

Research Site

Zagazig, Egypt

NOT YET RECRUITING

MeSH Terms

Conditions

Neurofibromatosis 1

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

AstraZeneca Clinical Study Information Center

CONTACT

1-877-240-9479; information.center@astrazeneca.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 24, 2025
• First Posted: October 27, 2025
• Study Start: November 19, 2025
• Primary Completion (Estimated): September 30, 2026
• Study Completion (Estimated): September 30, 2026
• Last Updated: April 16, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share
• Time Frame: AstraZeneca will meet or exceed data availability as per the commitments made to the EFPIA PhRMA Data Sharing Principles. For details of our timelines, please rerefer to our disclosure commitment at https://astrazenecagrouptrials.pharmacm.com/ST/Submission/Disclosure.
• Access Criteria: When a request has been approved AstraZeneca will provide access to the anonymized individual patient-level data via secure research environment Vivli.org. Signed Data Usage Agreement (non-negotiable contract for data accessors) must be in place before accessing requested information.

Locations

EG (9)