Clinical and demographic characteristics of adults with neurofibromatosis in Russia

Clinical and Demographic Characteristics of Adult Patients With NEurofibromatosis in RUSsia

This project collects routine clinical and patient-reported information from adults in Russia who have neurofibromatosis with symptomatic plexiform neurofibromas to see how the condition affects their health and care.

Quick facts

• Study type: Observational
• Enrollment: 200 (estimated)
• Sex: All
• Sponsor: AstraZeneca (Industry-sponsored)
• Drugs / interventions: chemotherapy, radiation
• Locations: 13 sites (Arkhangelsk and 12 other locations)
• Trial ID: NCT07088991 on ClinicalTrials.gov

What this trial studies

This is an open-label, single-arm, non-interventional multi-center cohort collecting clinical and patient-reported outcomes during routine care for adults with NF1 and confirmed plexiform neurofibromas in Russia. Eligible participants are adults (≥18) with NF1 and symptomatic PN who are naïve to MEK-inhibitor therapy; exclusions include current participation in other interventional trials and active malignant tumors requiring chemotherapy. Data will be gathered at participating research sites in Arkhangelsk, Chelyabinsk, and Krasnoyarsk and compiled to describe demographics, clinical features, and symptom burden. The study is sponsored by AstraZeneca and aims to document real-world patterns of care and outcomes rather than test an experimental treatment.

Who should consider this trial

Good fit: Adults aged 18 or older with a diagnosis of NF1 and a confirmed, symptomatic plexiform neurofibroma who have not previously received MEK-inhibitor therapy and can provide informed consent.

Not a fit: Patients with active malignant tumors requiring chemotherapy, those already treated with MEK inhibitors, or those currently enrolled in interventional clinical trials are unlikely to benefit from participation in this observational project.

Why it matters

Potential benefit: If successful, the findings could improve understanding of symptom patterns and care needs for adults with NF1 and PN in Russia, helping guide clinical management and future research.

How similar studies have performed: Other non-interventional registries and observational cohorts in NF1 have successfully characterized natural history and supported drug development, and separate interventional MEK-inhibitor trials have shown clinical benefit for plexiform neurofibromas.

Eligibility criteria

Inclusion Criteria:

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).

Exclusion Criteria:

1. The participation in any clinical study currently (patients participating in other non-interventional studies may be included);
2. Patients with the evidence of a malignant glioma, malignant peripheral nerve sheath tumor, or other cancer, requiring treatment with chemotherapy or radiation therapy.
3. In the opinion of the investigator the patient is not able to return for follow-up visits or obtain required follow-up studies.
4. 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.
5. 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).
6. 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.

Where this trial is running

Arkhangelsk and 12 other locations

• 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)

Study contacts

• Study coordinator: AstraZeneca Clinical Study Information Center

Conditions Neurofibromatosis