Neoplasms

Nervous System Diseases

Diseases and Abnormalities at or Before Birth

All Conditions

Symptoms and General Pathology

Skin and Connective Tissue Diseases

Rare Diseases

Neurofibromatoses

Neurofibromatosis 1

Neurofibroma

Neurofibroma, Plexiform

Nerve Sheath Neoplasms

Neoplasms, Nerve Tissue

Neoplasms by Histologic Type

Syndrome

Neoplastic Syndromes, Hereditary

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Peripheral Nervous System Diseases

Neuromuscular Diseases

Nervous System Neoplasms

Peripheral Nervous System Neoplasms

Neurofibromatosis

Neurofibromatosis Type 1

This study is purely descriptive study.

Zhichao Wang

Lei Zhang

Jiping Shi

Minjing Chen

Yang Xiao

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.

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

Epidemiological characteristics of other NF1 manifestations:

Describe the percentage of NF1 patients with cNF 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.

Describe the percentage of symptomatic NF1-PN at the baseline.

Describe the 1-year/2-year/3-year progression-free survival (PFS) rate of NF1- PN.

Describe the percentage of NF1-PN patients underwent surgeries after index date.

Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
A Retrospective Study on Epidemiological Characteristics of Chinese NF1 Patients in Real World (PROMISE)	NCT06379230	Neurofibromatos... Plexiform Neuro...	This study is p...	-	Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University
A Retrospective Study on Epidemiological Characteristics of Chinese NF1 Patients in Real World (PROMISE)	NCT06379230	Neurofibromatos... Plexiform Neuro...	This study is p...	-	Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University

Spots Global Cancer Trial Database for this study is purely descriptive study.