We invite adults with neurofibromatosis type 1 (NF1) to participate in the international NF1 cutaneous neurofibroma consortium project which aims to improve our understanding of how genetics affects the number of skin neurofibromas a person with NF1 may develop.

Who can participate in the research study/trial?

Adults with a clinical or genetic diagnosis of NF1.


Why is the research being done?

It is currently difficult to know how many skin neurofibromas someone will develop. These skin lumps can cause distress for those affected, particularly if they appear in large numbers. We are attempting to understand why some people are mildly affected whereas other people have many neurofibromas. There is currently no drug treatment for these skin neurofibromas.


What will study participants be asked to do? What does the study involve?

It will require people to answer some questionnaires and provide photos of their skin to a secure website NF1 Project. The project will use computer vision-based machine learning solution to assess the severity of the skin tumors using photographs.  

They will then provide a blood or saliva sample for genetic analysis.  These DNA samples will be used to look for genes which influence whether a person with NF1 will develop a mild or a more severe form of the condition.  

Participants in the study will not be identified by name and any information will be stored securely with the University of Newcastle who will conduct the scientific analysis. 


Interested in Participating?

Click here to download the participant information and consent form

For more visit the NF1 Project Website or email info@nf1project.com