Neurofibromatosis Publications
The Sarin Lab’s neurofibromatosis research focuses on neurofibromatosis type 1 (NF1), especially cutaneous neurofibromas, patient quality of life, stigma, disease burden, biomarkers, clinical trial design, and therapeutic development. This work uses NF1 as a rare disease model to better understand visible skin tumors, patient-centered outcomes, disease progression, and new treatment strategies.
2026 Journal of the American Academy of Dermatology
Measurement of the severity related to cutaneous neurofibromas in neurofibromatosis type 1: Development and validation of the Nef-ASI
This study developed and validated the Nef-ASI, a tool for measuring the severity of cutaneous neurofibromas in people with NF1. This work helps standardize how cutaneous neurofibroma burden is assessed in research and clinical care.
2026 Journal: British Journal of Dermatology
Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D
This study created and validated the cNF-PUSH-D, a patient-reported tool designed to measure stigma related to cutaneous neurofibromas. The paper highlights the emotional and social impact of visible skin tumors in NF1 and provides a way to measure stigma in research and clinical trials.
2025 Journal: JAAD International
Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional study
This study analyzed clinical features of NF1 in a large Chinese cohort and identified distinct NF1 subtypes. The findings support more personalized approaches to understanding and managing NF1 across diverse populations.
2024 Journal: JAMA Dermatology
Cutaneous Neurofibromas and Quality of Life in Adults With Neurofibromatosis Type 1
This study examined how cutaneous neurofibromas affect quality of life, pain, and itch in adults with NF1. It found that tumor number, size, and facial involvement are especially important factors in patient burden.
2024 Journal: Science Advances
Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1
This phase 2a clinical trial tested NFX-179, a topical MEK inhibitor, for cutaneous neurofibromas in NF1. The study found evidence of pathway inhibition, strong safety, and potential therapeutic benefit.
2024 Journal: British Journal of Dermatology
Toward risk stratification and personalized therapy for neurofibromas in neurofibromatosis type 1
This commentary highlights the need for better risk stratification and personalized treatment approaches for neurofibromas in NF1. It connects patient outcomes, clinical trial design, and future therapeutic development.
2024 Journal: British Journal of Dermatology
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials
This paper developed a standardized set of outcome domains for clinical trials targeting cutaneous neurofibromas in NF1. The work helps ensure that future trials measure outcomes that matter to patients, clinicians, researchers, and regulators.
2024 Journal: Clinical Trials
Perspectives of adolescents with neurofibromatosis 1 and cutaneous neurofibromas: Implications for clinical trials
This study examined how adolescents with NF1 and their caregivers view cutaneous neurofibromas, treatment options, and acceptable treatment risks. The findings help guide patient-centered clinical trial design for younger individuals with NF1.
2023 Journal of Investigative Dermatology
A Call for Discovery and Therapeutic Development for Cutaneous Neurofibromas
This article calls for increased discovery research and therapeutic development for cutaneous neurofibromas. It emphasizes the need for better models, biomarkers, clinical trials, and treatments for this major source of burden in NF1.
2023 Journal of Investigative Dermatology
cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States Adults
This study validated the cNF-Skindex, a quality-of-life measurement tool for adults with NF1 and cutaneous neurofibromas. It also defined severity categories that can help interpret patient burden in both clinical care and research.
2021 Neurology
Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research
This paper reviews existing biomarker data for cutaneous neurofibromas and provides recommendations for incorporating biomarkers into NF1 clinical research. The work supports better trial design and future biomarker discovery.
2022 Journal: JAMA Dermatology
Neurofibromatosis Type 1 and Risk of Skin Cancer
This cohort study examined whether adults with NF1 have increased odds of developing basal cell carcinoma, squamous cell carcinoma, or melanoma. This paper connects NF1 research with broader questions about skin cancer risk.
2020 Journal: JCI Insight
Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry
This study used a large international registry to characterize clinical variation in NF1. The findings identified distinct patient subtypes and showed the value of registries for understanding rare disease heterogeneity.