NF1-PN Care

Real Patient Living with NF1-PN

NF1-PN can impact every aspect of patients’ lives​

I don’t wear short shorts because of the PN on my thigh. I only wear longer shorts or pants.

– Lindsey, living with NF1-PN

Neurofibromatosis type 1 (NF1) is not rare in rare disease

  • NF1 is more common than cystic fibrosis (estimated at 1 in 3000 to 6000 people worldwide) and muscular dystrophy (estimated at 1 in 3500 to 5000 people worldwide)1-3
  • NF1 is the most prevalent of the known neurofibromatosis (NF) syndromes, a group of genetic disorders that are associated with the development of tumors on nerve tissues4
  • Other neurofibromatosis syndromes include NF2-related schwannomatosis and schwannomatosis4,5

NF1-PN can be a complex disease to manage

Here are common sites for Plexiform Neurofibromas.
  • Plexiform neurofibromas (PNs) can grow anywhere on the body outside of the CNS; the most common location is the head and neck area, followed by the extremities and trunk6,7,*,†
  • The growth rate of PNs is unpredictable, and there may be periods of rapid growth followed by periods of relative inactivity8-11
  • Pediatric patients with NF1 and symptomatic PNs have a higher mortality rate compared to those without PNs or with asymptomatic PNs6,*
  • Patients with NF1 have an 8% to 16% lifetime risk of transformation to malignant peripheral nerve sheath tumors (MPNSTs)12,13
Here are common sites for Plexiform Neurofibromas.
Common sites for PNs6,7,*,†

CNS=central nervous system.

NF1 patients and caregivers may be coping with a substantial QoL burden7,14-24

Physical morbidities

  • Pain
  • Impaired mobility
  • Disfigurement
  • Visual impairment
  • Airway obstruction
  • Spinal cord compression
  • Tumors putting pressure on organs

Psychological impact

  • Depression
  • Anxiety
  • Isolation
  • Low self-esteem
  • Stigma
  • Embarrassment
  • Fear of cancer
  • Impaired sexual health

Cognitive deficits

  • Inability to focus
  • Impaired memory
  • Impaired visual and motor function
  • Learning disabilities

Logistical setbacks

  • Trouble finding an HCP who specializes in NF
  • Financial barriers/lack of insurance
  • Travel barriers
  • Difficulty coordinating appointments

In a survey about NF1-PN burden25,‡:

65%
REPORTED
PAIN
 

In a study of patients with NF1-PN7,†:

48%
EXPERIENCED DISFIGUREMENT
(41/86)

In a separate study of patients with
NF116,§:

54%
HAD
ANXIETY

(44/82)

77%
HAD
DEPRESSION

(63/82)

“When I was younger, I wondered what people thought when they saw the PN on my leg because it’s visible when I’m wearing a bathing suit and it’s kind of embarrassing.”

Real Patient Living with NF1-PN

– Lindsey, living with NF1-PN

The most frequently reported concerns for patients across all age groups included pain, appearance/disfigurement, social activity/role participation, stigma, and anxiety.19,||

HCP=healthcare provider; QoL=quality of life.

Many patients learn to live with their symptoms

Patients with NF1-PN need monitoring throughout their lives. However, many normalize their challenges, adopting coping mechanisms rather than seeking care from a medical professional.8,17,24,26-29
quote-teal

I’m up 4 or 5 times at night because the pillow doesn’t feel right. I’ve just learned to accept it.

– Krista, living with NF1-PN

"I'm up 4 or 5 times at night because the pillow doesn't feel right. I've just learned to accept it." - Krista, living with NF1-PN.
quote-teal
I have to get used to living with these tumors that are pushing against my lung.

– Antwan, living with NF1-PN

"I have to get used to living with these tumors that are pushing against my lung." - Antwan, living with NF1-PN.
quote-teal
Exercising on my stationary bike can be uncomfortable because of the tumor on my thigh. I have to use a bike cushion.

– Lindsey, living with NF1-PN

"Exercising on my stationary bike can be uncomfortable because of the tumor on my thigh. I have to use a bike cushion." - Lindsey, living with NF1-PN.
Some patients return to care only when symptoms like pain become unbearable or they have an acute concern (eg, family planning). Current guidelines and clinical practice recommendations emphasize the need for continuous monitoring at regular intervals.8,15,21,24,26,27,29,30

Unmet needs remain in NF1-PN

There’s still a need for innovation in NF1-PN treatment.
Learn more
*
Based on a retrospective analysis of 154 pediatric NF1-PN patients seen at Cincinnati Children’s Hospital Medical Center between 1997 and 2007.6
†
Based on a retrospective analysis of 491 NF1 patients followed at 2 reference centers in Brazil.7
‡
Based on a cross-sectional study using a one-time survey of NF1-PN patients and caregivers. Sixty-one pediatric patients 8 to 18 years old and their caregivers, and 21 additional caregivers of patients 2 to 7 years old (total of 82 caregivers) participated in the survey.25
§
Based on a retrospective cohort study of 82 NF1 patients with a comorbid diagnosis of depression, anxiety, and/or attention-deficit hyperactivity disorder.16
||
Based on a qualitative study where clinicians (n=8), NF1-PN patients aged 5 years and older (n=31), and parents of NF1-PN patients aged 5 to 17 years (n=17) were interviewed to elicit the PN-related symptoms and concerns considered most important to assess.19

Based on SpringWorks Therapeutics–sponsored market research that included 4 adult NF1-PN patients and 11 NF1-PN caregivers. Both patients and caregivers were asked to identify the emotional and experiential impact of NF1-PN on patients.24

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  9. Akshintala S, Baldwin A, Liewehr DJ, et al. Longitudinal evaluation of peripheral nerve sheath tumors in neurofibromatosis type 1: growth analysis of plexiform neurofibromas and distinct nodular lesions. Neuro Oncol. 2020;22(9):1368-1378.
  10. Ly KI, Merker VL, Cai W, et al. Ten-year follow-up of internal neurofibroma growth behavior in adult patients with neurofibromatosis type 1 using whole-body MRI. Neurology. 2023;100(7):e661-e670.
  11. Nguyen R, Dombi E, Widemann BC, et al. Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. Orphanet J Rare Dis. 2012:7:75.
  12. Higham CS, Dombi E, Rogiers A, et al. The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors. Neuro Oncol. 2018;20(6):818-825.
  13. Miettinen MM, Antonescu CR, Fletcher CDM, et al. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview. Hum Pathol. 2017;67:1-10.
  14. Gross AM, Singh G, Akshintala S, et al. Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1. Neuro Oncol. 2018;20(12):1643-1651.
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  16. Houpt AC, Schwartz SE, Coover RA. Assessing psychiatric comorbidity and pharmacologic treatment patterns among patients with neurofibromatosis type 1. Cureus. 2021;13(12):e20244.
  17. Foji S, Mohammadi E, Sanagoo A, Jouybari L. How do people with neurofibromatosis type 1 (the forgotten victims) live? a grounded theory study. Health Expect. 2022;25(2):659-666.
  18. Rosnau K, Hashmi SS, Northrup H, Slopis J, Noblin S, Ashfaq M. Knowledge and self-esteem of individuals with neurofibromatosis type 1 (NF1). J Genet Couns. 2017;26(3):620-627.
  19. Lai J-S, Jensen SE, Patel ZS, Listernick R, Charrow J. Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan. Am J Med Genet A. 2017;173(1):79-87.
  20. Fournier H, Calcagni N, Morice-Picard F, Quintard B. Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review. Orphanet J Rare Dis. 2023;18(1):39.
  21. Radtke HB, Berger A, Skelton T, Goetsch Weisman A. Neurofibromatosis type 1 (NF1): addressing the transition from pediatric to adult care. Pediatric Health Med Ther. 2023;14:19-32.
  22. Leidger A, Vosschulte M, Nieder TO, Mautner V-F. Sexual self-esteem and psychological burden of adults with neurofibromatosis type 1. Front Psychol. 2022:13:883019.
  23. Crow AJD, Janssen JM, Marshall C, et al. A systematic review and meta-analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1. Am J Med Genet A. 2022;188(8):2277-2292.
  24. Data on file: SpringWorks Therapeutics, Inc.
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  28. Rietman AB, van Helden H, Both PH, et al. Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A. 2018;176(5):1150-1160.
  29. Oates EC, Payne JM, Foster SL, Clarke NF, North KN. Young Australian adults with NF1 have poor access to healthcare, high complication rates, and limited disease knowledge. Am J Med Genet A. 2013;161A(4):659-666.
  30. Armstrong AE, Belzberg AJ, Crawford JR, Hirbe AC, Wang ZJ. Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas. BMC Cancer. 2023;23(1):553.