Study Findings Show Considerable Disease Burden of NF1-PN Among Affected Patients

Findings from the real-world CASSIOPEA study show the considerable disease burden of neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN) highlighting the importance of effective treatments for this patient population.

“Surgery is a treatment option for neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN), but complete resection is often not feasible,” explained Pierre Wolkenstein, MD, PhD, Henri-Mondor Hospital, Cedex, France, and coauthors, adding that real-world studies are warranted to understand disease burden, progression and need for medical treatment in patients with inoperable PN.

CASSIOPEA was a retrospective study of French pediatric patients (aged ≥3 to <18 years) presenting at a national multidisciplinary team (MDT) review with NF1 and ≥1 symptomatic, inoperable PN. Researchers reviewed medical recording from the time of MDT review and over a follow-up period of up to 2 years.

The primary objectives of the study were to describe patient characteristics and target PN-associated therapy patterns. A secondary objective was evolution of target PN-related morbidities.

Overall, 78 target PN were identified in 76 patients. At MDT review, the median age of patients was 8.4 years, with approximately 30% of patients aged 3 to 6 years. Target PN were primarily internal (77.3%), and 43.2% were progressive. Target PN location was evenly distributed.

MDT recommendations were documented for 34 target PN, 76.5% of which were for non-medication management, including surveillance. At least one follow-up visit was recorded for 74 target PN.

Researchers noted that despite initially being considered inoperable, 12.3% of patients underwent surgery for target PN.

At MDT review, 98.7% of target PN were associated with ≥1 morbidity, primarily pain (61.5%) and deformity (24.4%). Severe morbidities were identified in 10.3% of target PN. Of 74 target PN with follow-up data, 89.2% were associated with ≥1 morbidity, primarily pain (60.8%) and deformity (25.7%). Of 45 target PN associated with pain, pain improved in 26.7%, was stable in 44.4%, and deteriorated in 28.9%. Deformity improved in 15.8% and remained stable in 84.2% of 19 target PN associated with deformity.

“In conclusion, this study highlights that disease burden was considerable and target PN progressed in many patients in this cohort. A substantial proportion of patients were very young. Target PN-related morbidities were frequent and heterogeneous, and primarily deteriorated or remained stable during follow-up,” concluded Dr Wolkenstein and coauthors.

“These data emphasize the need for effective treatments that target PN progression and improve the burden of disease,” they added.

Source:

Wolkenstein P, Chaix Yves, Werle NE, et al. Eur J Med Genet. 2023 May;66(5):104734. doi:10.1016/j.ejmg.2023.104734. Epub 2023 Mar 2.