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CTF-Funded Research Sheds Light on Experiences of Chronic Pain in NF1

Researchers at Yale University and the National Cancer Institute published new research last month in the American Journal of Medical Genetics on the experiences of chronic pain in neurofibromatosis type 1 (NF1). This study, which recruited participants through the NF Registry and was funded by a CTF Clinical Research Award, aimed to evaluate a new way in which we measure chronic pain in individuals with NF1. 

A man in a blue suit sitting at a table.

CTF-funded researcher Dr. Frank Buono


Chronic pain is an important aspect of living with NF1, but it’s usually not well understood and therefore hard to treat. Thanks to this research team led by Dr. Frank Buono, a researcher and NF2-SWN patient, and the individuals who participated in the study, results show that the tool studied, called the Neurofibromatosis Pain Module (NFPM), can characterize NF1 pain in many different ways – giving a clearer picture of what it’s actually like to experience it. 

By understanding all the different aspects of chronic pain, clinicians can more reliably measure a patient’s experiences with pain over time and make smarter decisions about treatments. It’s a significant step forward in the quest for improved care for those affected by NF1.

Here, we present a lay summary of the study, which can be found in its entirety at the link below. 


Understanding Chronic Pain in Neurofibromatosis Type 1 using the Neurofibromatosis Pain Module (NFPM); Frank Buono, Kaitlyn Larkin, William Zempsky, Lauretta Grau, Staci Martin 

Chronic pain is a significant issue for individuals with neurofibromatosis type 1 (NF1), however, our current understanding of this pain is lacking. Research has found that experiences of pain are unique, subjective, and multifaceted, especially in NF1 where many symptoms (plexiform and cutaneous tumors, scoliosis, bone abnormalities, etc.) can be the cause. The standard practice of rating pain severity on a scale from 1 – 10 does not gather enough information from patients to be useful in treating this kind of pain.

This study aims to evaluate the experiences of chronic pain in NF1 patients through a new tool called the Neurofibromatosis Pain Module (NFPM), which the authors hope can be helpful for both doctors and patients.The NFPM is a 39-question survey that asks participants to identify areas on a diagram of the human body where they feel the most pain. They then answer a series of questions to describe that particular pain, including its severity and quality, their ability to tolerate it, and if it interferes with daily activities. There are also open-ended questions to ask how pain varies and feels over time. 

In this study, 242 individuals with NF1 completed the NFPM in an online questionnaire and results were analyzed. Results found that chronic pain in NF1 can affect all areas of life and all parts of the body. Sleep, exercise, mood, and attention to tasks were the most mentioned activities disrupted and many participants reported struggling to manage these symptoms. The open-ended questions also shed some light on how these participants’ pain worsens or is triggered, most commonly through movement activities, when a tumor was physically bumped or rubbed, or an unknown source.

Overall, these results show us how complex NF1 pain is and suggest the usefulness of the NFPM in capturing this information. The authors hope that the NFPM can go on to help care providers build a more comprehensive understanding of their NF1 patient’s pain so these experiences can be better managed and treated.

About the NF Registry 

The Children’s Tumor Foundation has sponsored the Registry since 2012 with two primary purposes in mind: 

  • Keeping the NF community informed about NF news and current research.
  • Helping NF researchers learn about NF from the patient’s perspective by providing a source of anonymized information from thousands of individuals worldwide.

Since 2012, through the efforts of CTF and collaborating NF Patient Advocacy Groups, the NF Registry has grown to over 11,000 members and is the largest NF patient database in the world. 

The NF Registry is a safe and effective tool to empower NF patients and their caregivers by inviting them to participate in relevant clinical trials and take an active role in advancing NF research. It is the most efficient way to raise awareness for NF, expand the NF community, and connect to help end NF.

You can join the NF Registry by signing up at