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

NCT06379230 | Recruiting

• 1 other identifier: SH9H-2023-T378-1
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 5

Brief Summary

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.

Conditions

Neurofibromatosis 1; Plexiform Neurofibroma

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (3)

• Clinical characteristics of NF1-PN:

  2022.12.31

• Tumor progression of NF1-PN

  2022.12.31

• Treatment pattern of NF1-PN:

  2022.12.31

Other Outcomes (1)

• The exploratory endpoints:

  2022.12.31

Interventions

This study is purely descriptive study. OTHER

This study is purely descriptive study.

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 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.

You may qualify if:

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

You may not qualify if:

• \. Patients combined with other malignant tumors

Sponsors & Collaborators

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

Study Sites (5)

Xuanwu Hospital, Capital Medical University

Beijing, Beijing Municipality, China

RECRUITING

The First Affiliated Hospital of Guangxi Medical University

Nanning, Guangxi, China

RECRUITING

The First Affiliated Hospital of Zhengzhou University

Zhengzhou, Henan, China

RECRUITING

Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine

Shanghai, Shanghai Municipality, 200011, China

ACTIVE NOT RECRUITING

West China Hospital, Sichuan University

Chengdu, Sichuan, China

RECRUITING

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibroma, Plexiform

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; Peripheral Nervous System Neoplasms; Nervous System Neoplasms

Central Study Contacts

Zhichao Wang

CONTACT

+86 13816382311; shmuwzc@163.com

Study Design

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

Study Record Dates

• First Submitted: April 18, 2024
• First Posted: April 23, 2024
• Study Start: January 1, 2019
• Primary Completion: December 31, 2022
• Study Completion: February 28, 2025
• Last Updated: April 23, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

CN (5)