Neurofibromatosis Type 1PRECIOUS EgyptNCT07221331
Prevalence, Clinical Characteristics, Progression, and Management of Neurofibromatosis Type 1 in Egypt (NF1-Egy)
An observational study of Neurofibromatosis Type 1, run by AstraZeneca at 9 sites in Egypt.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neurofibromatosis Type 1
- How many people
- 200 participants
- Where
- 9 sitesEgypt
- Study dates
- 19 Nov 2025to 30 Sep 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients' records will be eligible for study inclusion if the NF1 diagnosis date is between 01-Jan-2010 and 31-Dec-2023.
Who may be able to join
- Male or female patients of any age at index date (first diagnosis of NF1 and/or PN).
- 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.
Who cannot join
- Missing NF1 diagnosis data in their medical record.
Trial locations and contacts
9 sites in 1 country. Contact the study team or a site near you to ask about taking part.
AstraZeneca Clinical Study Information Center contact
9 sites in 1 country
Egypt9 sites, 9 recruiting
- Recruiting
Research Site
Al Mansurah
- Recruiting
Research Site
Alexandria
- Recruiting
Research Site
Aswān
- Not yet recruiting
Research Site
Asyut
- Recruiting
Research Site
Cairo
- Not yet recruiting
Research Site
Cairo
- Not yet recruiting
Research Site
Sohag
- Recruiting
Research Site
Tanta
- Not yet recruiting
Research Site
Zagazig
About this study
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.
Read more
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
- Medical subject headings
- Neurofibromatosis 1
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of patients with Neurofibromatosis type 1-Plexiform Neurofibromas
Prevalence of patients with NF1-PN from total NF1 population.
Measured: 13 Years
Secondary outcomes (4)
Demographics
Age at first diagnosis of NF1
Measured: 13 Years
Clinical characteristics
Medical and surgical history
Measured: 13 Years
Patient management
NF1-related medication history
Measured: 13 Years
Patient progression
describe change in the growth of PN
Measured: 13 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Oct 2025
- Study start19 Nov 2025
- Primary completion30 Sep 2026 (estimated)
- Study completion30 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis Type 1Studies of the same condition, open and under way.
- More trials run by AstraZenecaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Retrospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- AstraZeneca
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07221331
- Sponsor's protocol ID
- D134BR00005
- Acronym
- PRECIOUS Egypt
- Status last verified
- Sep 2026
- First submitted
- 24 Oct 2025
- Last updated
- 11 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Qualified researchers can request access to anonymized individual patient-level data from AstraZeneca group of companies sponsored clinical trials via the request portal Vivli.org. All requests will be evaluated as per the AZ disclosure commitment: https://astrazenecagrouptrials.pharmacm.com/ST/Submission/Disclosure. Yes, indicates that AZ are accepting requests for IPD, but this does not mean all requests will be shared.
Study at a glance
From the registry record, last updated by the sponsor on 11 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence, Clinical Characteristics, Progression, and Management of Neurofibromatosis Type 1 in Egypt (NF1-Egy)
- ClinicalTrials.gov ID
- NCT07221331
- Acronym / sponsor ID
- PRECIOUS Egypt / D134BR00005
- Conditions
- Neurofibromatosis Type 1
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- AstraZenecaIndustry (pharma, biotech, devices)
- Study start
- 19 Nov 2025 (actual)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 30 Sep 2026 (estimated)
- First posted
- 27 Oct 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients' records will be eligible for study inclusion if the NF1 diagnosis date is between 01-Jan-2010 and 31-Dec-2023.
Key inclusion criteria (2 listed)
- Male or female patients of any age at index date (first diagnosis of NF1 and/or PN).
- 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.
Key exclusion criteria (1 listed)
- Missing NF1 diagnosis data in their medical record.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Prevalence of patients with Neurofibromatosis type 1-Plexiform Neurofibromas
Time frame: 13 Years
Prevalence of patients with NF1-PN from total NF1 population.
4 secondary outcomes
Demographics
Time frame: 13 Years
Clinical characteristics
Time frame: 13 Years
Patient management
Time frame: 13 Years
Patient progression
Time frame: 13 Years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Sep 2026.
- Individual participant dataSharing planned: Yes. Qualified researchers can request access to anonymized individual patient-level data from AstraZeneca group of companies sponsored clinical trials via the request portal Vivli.org. All requests will be evaluated as per the AZ disclosure commitment: https://astrazenecagrouptrials.pharmacm.com/ST/Submission/Disclosure. Yes, indicates that AZ are accepting requests for IPD, but this does not mean all requests will be shared.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
AstraZeneca Clinical Study Information Center contact
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis Type 1, run by AstraZeneca at 9 sites in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 11 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact AstraZeneca Clinical Study Information Center (1-877-240-9479, information.center@astrazeneca.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of patients with Neurofibromatosis type 1-Plexiform Neurofibromas (time frame: 13 Years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Sep 2026.