Characteristics, treatment patterns, healthcare resource use, and costs among pediatric patients diagnosed with neurofibromatosis type 1 and plexiform neurofibromas: a retrospective database analysis of a medicaid population.

OBJECTIVES: The objectives of this study were to describe the characteristics and initial treatment patterns, healthcare resource use (HCRU), and costs of patients newly diagnosed with neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN). METHODS: This was a retrospective study of individuals enrolled in the IBM MarketScan Multi-State Medicaid database from 1 October 2014 to 31 December 2017. Patients aged ≤18 years at the index date (first diagnosis of NF1 or PN, whichever occurred later) with at least 1 ICD-10-CM diagnosis code for both NF1 and PN were included. All-cause HCRU and the associated direct costs during the follow-up period were calculated per patient per year (PPPY) in 2018 USD. RESULTS: A total of 383 patients were included with a mean follow-up of 448 days. Most patients were diagnosed by a specialist (63.5%). During the follow-up period, pain medications were used by 58.5% of patients, 25.1% were treated with chemotherapy, 7.1% received surgery for PN, 1.6% received MEK inhibitors, and 0.8% received radiation. Mean PPPY inpatient, outpatient, ER, pharmacy, and other visits were 1.4, 17.3, 1.6, 13.6, and 25.8, respectively. Mean ± SD (median) total PPPY healthcare costs were $17,275 ± $61,903 ($2889), with total medical costs of $14,628 ± $56,203 ($2334) and pharmacy costs of $2646 ± $13,303 ($26). CONCLUSIONS: This study showed that many pediatric patients newly diagnosed with NF1 and PN were initially treated with supportive care only, highlighting a substantial unmet medical need. This study also highlights the considerable economic burden among patients with NF1 and PN.

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool.

BACKGROUND: Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic features, and uncertainty about the disorder. METHODS: This study sought to develop a self-administered questionnaire in French to assess the burden of NF1 (BoN), then translate and linguistically and cross-culturally validate it into American English, standardized methodology applied, as outlined in the report. RESULTS: Based on several discussions with NF1 patients, a 17-item conceptual questionnaire was first produced. Of the 91 NF1 adult patients who responded to the conceptual questionnaire, 65 (64.6% females) were accessible. Subsequent confirmatory analyses generated a 15-item questionnaire grouped into four domains, demonstrating internal consistency (Cronbach's alpha: 091), discriminant validity, and high reliability. The BoN was likewise shown to significantly correlate with other validated questionnaires, such as Dermatology Life Quality Index, Perceived Stress Scale, and SF12 mental score, indicating good external validity. CONCLUSIONS: BoN is a specific tool for assessing the burden that NF1 generates on many practical aspects of the patient daily activities, beyond the notion of quality of life". Given the increasing relevance that regulatory authorities attribute to patient-reported outcomes, the BoN questionnaire provides such supplementary information while accounting for the burden of NF1 patients in the broadest sense.

Neurofibromatosis.

Neurofibromatosis is a heritable disease characterized by disordered growth of ectodermal tissues.

Cost evaluation of the medical management of neurofibromatosis 1: a prospective study on 201 patients.

Neurofibromatosis 1 (NF1) is associated with many internal complications as well as skin manifestations, and patients may require a variety of medical and surgical interventions. We aimed to assess the medical needs of NF1 patients, and to evaluate the financial cost of the resources used for them in relation to the severity of the disease. We conducted a prospective analysis on a cohort of 201 patients in our referral centre for adults. Severity of the disease was assessed. Therapeutic management was considered as multidisciplinary if it required more than three different specialists. Plastic and dermatological surgery procedures performed were recorded. Hospital costs were computed over a 3-year period and included all hospitalization days, clinic visits and procedures performed in all departments where the patients were admitted. One hundred and thirty-seven patients had at least one out-patient procedure or one hospitalization during the follow-up period. The mean cost per patient per year was pound810 (median 240; range 0-13, 860). Multidisciplinary procedures were more frequent in moderately and severely affected NF1 patients than in milder cases (P < 0. 0001); hence, the costs for moderate and severe cases were higher than for less severe groups (P = 0.005). Plastic and/or dermatological surgery was performed with the same frequency in the different severity groups (71%). Regardless of the presence of serious intractable complications, the patients' priority is for treatment of the disfigurement due to the disease. The management of these patients can be considered relatively inexpensive from the viewpoint of the healthcare system.