Cutaneous Neurofibromas (cNFs) Natural History Initiative

Building a uniform, open-source dataset that will act as a baseline against which the impact of potential therapies can be evaluated.

Now recruiting patients for Natural history study of cutaneous neurofibromas in people with NF1

What is it?

A study of the natural history of cutaneous neurofibromas (cNFs) across all age groups to define the optimal method of cNF quantification, and develop and validate patient- and clinician-reported scales to rate cNF severity and symptoms.

For patients

Watch this 3-minute video on how the study works and what you need to do.

Register now

Contact: Mandi Johnson


Call: 410-502-7546

For physicians

Principal investigator: Carlos Romo, M.D.

Eligibility Criteria

  • Age: 1 month - 100 years old
  • Must have a confirmed clinical diagnosis of NF1
  • Ability to travel to Baltimore once yearly for 5 years
  • Up to $700 travel reimbursement available for participants not living in Baltimore

More About cNF Natural History Projects

There is great clinical variability in cutaneous neurofibromas (cNFs), making it challenging to design an intervention and prove efficacy. The NTAP cNF Natural History initiative is designed to develop a clearer understanding of the clinical behavior of these tumors and has two key objectives:

  1. Support the ongoing prospective NF1 natural history study at the Pediatric Oncology branch of The National Cancer Institute.
  2. Bring together a consortium of global researchers to combine clinically-obtained longitudinal data to assess large numbers of cNFs over time.


NTAP has collaborated with the Pediatric Oncology Branch of the National Cancer Institute (POB-NCI) to analyze key elements of their long-standing natural history study.

This analysis yielded key data to help establish endpoints to be considered by the FDA for upcoming clinical trials including a median growth rate of cNF of 12.4%/year (range -8.5%/year to 246.7%/year) with none of the 82 individual cNF analyzed having spontaneous regression >20% over 5 years. [Akshintala S, et al Growth patterns and predictors of cutaneous neurofibroma (CN) growth in patients with neurofibromatosis 1 (NF1) based on volumetric Magnetic Resonance Imaging (MRI analysis), CTF, 2014].

>20% tumor regression established as an end point for single arm studies seeking regulatory approval

This allowed regression of tumor >20% to be an established end point for single arm studies seeking regulatory approval. Moreover, this work showed that faster growth rates were associated with younger patients with diffuse lesions, but that there was a distinct subset of tumors that had different behavior termed “nodular lesions” suggesting a subtype of cNF. There was no statistically significant relationship between cNF growth rate and patient’s sex, race, type of germline NF1 mutation or tumor location.