Clinical and Demographic Characteristics of Adult p Atients With NEurofibromatosis in RUSsia

NCT07088991 | Recruiting

• 1 other identifier: D134BR00007
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 13

Brief Summary

Clinical and Demographic Characteristics of Adult Patients with NEurofibromatosis in RUSsia (NEREUS)

Conditions

Neurofibromatosis

Outcome Measures

Primary Outcomes (22)

• Age (full years) at the inclusion into the study (date of Visit 1)

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Age (full years) at the primary NF1 diagnosis

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Proportion of men and women

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Body mass index (BMI), kg/m2;

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Body surface area (BSA), m2

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Proportion of patients with each educational status (higher, secondary special, secondary general);

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Proportion of patients from each residential region (federal district of Russia);

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Other than PN specific NF1 symptoms and manifestations

  skin symptoms and manifestations, tumor manifestations (except malignancies), neurological and cognitive manifestations, cardiovascular manifestations, endocrine manifestations, orthopedic manifestations (distinctive osseous lesions), ophthalmological manifestations, NF1 mutation, presence of NF1 diagnostic criteria in one of parents) (frequency distribution at baseline)

  Day 0 (Visit 1)

• NF1-associated complications

  malignancy, hypertension, vasculopathy, bone symptoms, chronic neurological conditions, neuropathy, and pain

  Day 0 (Visit 1)

• Non-specific NF1-comorbidities, coded by MedDRA system organ class (SOC) and preferred term (PT)

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Proportion of patients with various specific and non-specific NF1-comorbidities

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Proportion of patients with various PN-associated symptoms

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Proportion of patients with various ECOG score

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Proportion of patients with various PN locations

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• PN volume (established by MRI)

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Duration of PN symptoms persistence before inclusion into the study

  to be calculated between the date when initially symptoms of PN appeared and the date of Visit 1

  Day 0 (Visit 1)

• Duration of PN diagnosis before inclusion into the study

  to be calculated between the date of primary diagnosis of PN and the date of Visit 1

  Day 0 (Visit 1)

• Medical history of PN

  size, symptoms, previous medical interventions, surgeries or treatments

  Day 0 (Visit 1)

• Previous physical, instrumental and laboratory examination results

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. The term 'baseline' means that the data is obtained at the inclusion into the study (Visit 1) during retrospective data collection from patient medical documentation or via interview with a patient on Visit 1, where applicable.

  Day 0 (Visit 1)

• Amount and duration of hospitalizations associated with NF1 according to the investigator's opinion, collected from the medical history since the date of NF1 diagnosis

  if applicable, to be calculated in patients with at least one such hospitalization

  Day 0 (Visit 1)

• Degree of disability at baseline

  if applicable, to be calculated in patients with presence of disability at Visit 1

  Day 0 (Visit 1)

• Changing in disability degree during the study

  if applicable, to be calculated in patients with presence of disability at Visit 1

  Day 0 (Visit 1)

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

1. Age ≥ 18 years at the time of inclusion. 2. Signed and dated written informed consent in accordance with ICH-GCP and local law prior to inclusion in the study. 3. NF1 diagnosed (according to the international consensus criteria for evaluating NF1 \[18\]), see Appendix A. 4. Confirmed PN by clinical assessment, USI, MRI, biopsy; one method is sufficient (histologic confirmation of PN is not necessary in the presence of radiographic findings). 5. Existing of PN-associated symptoms. 6. Adult patients (≥18 years) with newly diagnosed PN or established PN naïve to MEK-inhibitor therapy verified by medical records/histories (e.g., prior prescriptions, hospitalization data).

You may qualify if:

• NF1 diagnosed (according to the international consensus criteria for evaluating NF1 \[18\]), see Appendix A.
• Confirmed PN by clinical assessment, USI, MRI, biopsy; one method is sufficient (histologic confirmation of PN is not necessary in the presence of radiographic findings).
• Existing of PN-associated symptoms.
• Adult patients (≥18 years) with newly diagnosed PN or established PN naïve to MEK-inhibitor therapy verified by medical records/histories (e.g., prior prescriptions, hospitalization data).

You may not qualify if:

• The participation in any clinical study currently (patients participating in other non-interventional studies may be included);
• Patients with the evidence of a malignant glioma, malignant peripheral nerve sheath tumor, or other cancer, requiring treatment with chemotherapy or radiation therapy.
• In the opinion of the investigator the patient is not able to return for follow-up visits or obtain required follow-up studies.
• Individuals who are pregnant or breast feeding or who become pregnant while enrolled on this trial, if they are unable to undergo radiographic evaluations or MRI scans requested for research purposes, or other studies which might negatively impact on the pregnancy.
• Prior receipt of any MEK-inhibitor for PN therapy within 4 months before screening or initiation of therapy prior to age 18 verified by medical records/histories (e.g., prior prescriptions, hospitalization data).
• Patients who modify their index pathogenetic therapy regimen during the study (for example, pathogenetic antitumor therapy of PN; switching to a different therapy), as determined by the investigator at any protocol-specified visit during the a study, will be excluded from the primary efficacy analysis population from the point of modification onward and will not continue study participation.

Sponsors & Collaborators

• AstraZeneca: lead

Study Sites (13)

Research Site

Arkhangelsk, Russia

RECRUITING

Research Site

Chelyabinsk, Russia

RECRUITING

Research Site

Krasnoyarsk, Russia

RECRUITING

Research Site

Kurgan, Russia

RECRUITING

Research Site

Moscow, Russia

RECRUITING

Research Site

Nizhny Novgorod, Russia

RECRUITING

Research Site

Novosibirsk, Russia

RECRUITING

Research Site

Orenburg, Russia

RECRUITING

Research Site

Saint-Peretsburg, Russia

RECRUITING

Research Site

Samara, Russia

RECRUITING

Research Site

Tomsk, Russia

RECRUITING

Research Site

Ufa, Russia

RECRUITING

Research Site

Yekaterinburg, Russia

RECRUITING

MeSH Terms

Conditions

Neurofibromatoses

Condition Hierarchy (Ancestors)

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; 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: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 3, 2025
• First Posted: July 28, 2025
• Study Start: June 6, 2025
• Primary Completion (Estimated): March 31, 2028
• Study Completion (Estimated): March 31, 2028
• Last Updated: March 31, 2026

Record last verified: 2026-03

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

RU (13)