A Retrospective Study on Epidemiological Characteristics of Chinese NF1 Patients in Real World (PROMISE)

Background/Rationale: Neurofibromatosis type 1 (NF1) affects about 1 in every 3000 people worldwide. Globally, 30~50% NF1 patients will develop plexiform neurofibromas (PNs), which grow rapidly in early childhood and can cause disfigurement, motor dysfunction, pain, airway dysfunction, visual impairment and bladder and bowel dysfunction. This systemic disease imposes a heavy psychosomatic and financial burden on patients and their caregivers. In NF1 patients, the lifetime risk of MPNST developed from PN is 8% to 13%. The mean age for NF1-associated death was approximately 20 years lower than that for the general population. Limited epidemiological and clinical data of Chinese NF1 patients is available to date. And the treatment pattern of Chinese NF1-PN patients is also unknown.

Objectives and Hypotheses: It is a descriptive study without formal hypothesis. The primary objective of this study is determining the percentage of NF1 patients who develop PN. The secondary objectives of this study include describing the clinical characteristics, tumor progression and treatment pattern of NF1-PN. The exploratory objective is exploring the epidemiological characteristics of other NF1 manifestations.

Methods:

Study design: The study is a retrospective multi-center chart review study. Data Source(s): All the data will be collected by CRF from inpatient and outpatient electronic medical records in every study site from January 1, 2019 to December 31, 2022.

Study Population: Patients who attended the study sites between January 1, 2019 - December 31, 2022 and were diagnosed with NF1 were included in this study. Statistical Analysis: This study is purely descriptive without any formal hypotheses.

Missing data for baseline characteristics will be assessed and addressed as a categorical variable with a level for missingness. All reported measures will be summarized in the study tables. Point estimates and their 95% CIs will be presented in the final analyses.

Study Overview

• Status: Recruiting
• Conditions: Neurofibromatosis 1; Plexiform Neurofibroma
• Intervention / Treatment: Other: This study is purely descriptive study.

• Study Type: Observational
• Enrollment (Estimated): 2000

Contacts and Locations

• Study Contact: Name: Zhichao Wang; Phone Number: +86 13816382311; Email: shmuwzc@163.com

Study Locations

• China
  • Beijing
    • Beijing, Beijing, China
      • Recruiting
      • Xuanwu Hospital, Capital Medical University
      • Contact: Lei Zhang; Phone Number: +86 13683139858; Email: zhanglei@xwhosp.org
  • Guangxi
    • Nanning, Guangxi, China
      • Recruiting
      • The First Affiliated Hospital of Guangxi Medical University
      • Contact: Jiping Shi; Phone Number: +86 17758670856
  • Henan
    • Zhengzhou, Henan, China
      • Recruiting
      • the First Affiliated Hospital of Zhengzhou University
      • Contact: Minjing Chen; Phone Number: +86 13673665337; Email: 1916833431@qq.com
  • Shanghai
    • Shanghai, Shanghai, China, 200011
      • Active, not recruiting
      • Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine
  • Sichuan
    • Chengdu, Sichuan, China
      • Recruiting
      • West China Hospital, Sichuan University
      • Contact: Yang Xiao; Phone Number: +86 18884266797; Email: xiaoyang_angela@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients will be included in this study if they: 1) attended the study sites between January 1, 2019 and December 31, 2022; 2) were diagnosed with NF1 based on NIH NF1 consensus (Version 1987 or Version 2021); and 3) were not diagnosed with other malignant tumors from 2019.1.1 to 2022.12.31. As this study was a chart review, there was no systematic follow-up. Follow-up was based on individual patient needs, was not dictated by the study, and varied from person to person in a manner reflective of real clinical practice. Thus, patients were followed up until end of data availability, death, or loss of follow up, whichever comes first.

Description

Inclusion Criteria:

1. Patients who attended the study sites between January 1, 2019, and December 31, 2022.
2. Patients who were diagnosed with NF1(recorded with the text of type I neurofibromatosis) based on National Institutes of Health (NIH) NF1 consensus.

Exclusion Criteria:

1. Patients combined with other malignant tumors

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Determine the percentage of NF1 patients developed PN at the baseline.	The clinical diagnosis of PN mainly depends on the clinical manifestations and imaging of NF1 patients. Superficial PN has a clear clinical manifestation. It refers to a proliferation of cells in the nerve sheath which involves multiple nerve fascicles, forming a large pendulous mass with skin pigmentation on the surface. PN in vivo often has no significant clinical features and requires imaging examination, like MRI. Patients diagnosed with PN are recorded with the text of plexiform neurofibromas in the chart. The percentage of patients diagnosed with PN with imaging and the percentage of patients diagnosed with PN without imaging will be calculated.	2022.12.31

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical characteristics of NF1-PN:	Describe the percentage of symptomatic NF1-PN at the baseline.	2022.12.31
Tumor progression of NF1-PN	Describe the 1-year/2-year/3-year progression-free survival (PFS) rate of NF1- PN.	2022.12.31
Treatment pattern of NF1-PN:	Describe the percentage of NF1-PN patients underwent surgeries after index date.	2022.12.31

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
The exploratory endpoints:	Epidemiological characteristics of other NF1 manifestations: Describe the percentage of NF1 patients with cNF at the baseline.	2022.12.31

Collaborators and Investigators

• Sponsor: Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2019
• Primary Completion (Actual): December 31, 2022
• Study Completion (Estimated): February 28, 2025

Study Registration Dates

• First Submitted: April 18, 2024
• First Submitted That Met QC Criteria: April 18, 2024
• First Posted (Actual): April 23, 2024

Study Record Updates

• Last Update Posted (Actual): April 23, 2024
• Last Update Submitted That Met QC Criteria: April 18, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma; Neurofibroma, Plexiform
• Other Study ID Numbers: SH9H-2023-T378-1

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No