神経線維腫症1型関連叢状神経線維腫（NF1-PN）- 市場考察、疫学、市場予測（2034年）

主なハイライト

• 2023年、米国でNF1と診断された患者数は約9万7,000人であり、2034年までに増加すると予測されています。NF1患者の増加は、認知度の向上、診断技術の進歩、遺伝子検査へのアクセス性の向上によるものと考えられます。
• 叢状神経線維腫は、全身MRIによりNF1の約30～50%で同定されます。
• 小児NF1患者が成人期に移行する際、一般的に小児科医や神経腫瘍医によって提供される小児医療から、成人神経腫瘍医やケアチームへの移行に際してのサポートが必要となる可能性が高いです。この移行は、特に認知に困難を抱える患者にとっては困難であり、介護者の負担も増します。
• 手術は多くの患者にとって標準的な治療法ですが、多くの場合複雑であり、常に実行可能とは限らず、固有のリスクを伴い、再発の可能性が高いです。さらに、叢状神経線維腫の中には手術不可能と判断されるものもあります。
• 症候性で手術不可能なPNを有する小児NF1患者に対する疾患修飾治療が手術以外にないことは、QOLに深刻な影響を与えます。これには、疼痛、運動機能の低下、認知の課題、心理社会的葛藤、腫瘍の目に見える外観による社会的烙印の可能性などの問題が含まれます。
• 日本のNF1管理は、鎮痛剤と非ステロイド性抗炎症薬による支持療法が中心です。今回の調査結果は、重大なアンメットニーズ、経済的負担、革新的な治療オプションに対する緊急の需要を浮き彫りにしています。
• 主要7市場のNF1-PN治療における集学的で専門的な治療の必要性は、特に地理的格差に起因する公平性の潜在的課題を浮き彫りにしています。
• 手術に代わる薬剤療法は、臨床的な意思決定や管理戦略に新たな局面をもたらします。
• KOSELUGOの承認は、手術不能なNF1-PN腫瘍を持つ小児の治療を一変させました。この進歩に基づき、研究者たちは現在、小児と成人患者に使用する可能性のある他のMEK阻害薬を模索しています。
• KOSELUGOは小児患者に対してのみ承認されていますが、成人に対しては承認されていないため、治療ギャップが生じています。mirdametinibは、小児と成人の両方での承認取得を目指しています。mirdametinibのフェーズIIb ReNeu試験から得られた有望なデータは、小児・成人患者ともに腫瘍の有意な縮小とQOLの持続的改善を示しています。
• FCN-159や初期段階の候補であるPAS-004のような他のMEK阻害薬も開発中であり、投与と忍容性のプロファイルを向上させています。
• 新治療法は、投与の簡便性を向上させ、副作用を最小化し、現在の治療の限界に対処することを目指しています。
• 半減期が70時間のPAS-004は、1日2回の投与が必要で半減期が短い第1世代のMEK阻害薬とは異なり、1日1回の投与が可能です。
• 進化するNF1-PN治療情勢には、SpringWorks Therapeutics、Healx、Fosun Pharmaceuticalが主導する臨床試験と、この患者セグメントにおける大学主催の臨床試験があります。

NF1-PN市場の見通し

NF1-PNの治療は、歴史的に外科的介入、主に完全切除またはデバルキングに限られてきました。腫瘍の大きさや位置がこうしたアプローチをしばしば複雑にし、その多くは重要な構造物に近接していたり、侵襲的な性質を持つために手術不可能と分類されています。NF1-PN患者の約50%は、重大な罹患リスクを伴わずに安全に切除できない腫瘍に直面しており、根治的手術よりも対症療法に重点を置く必要があります。

可能であれば、NF1-PNに対するゴールドスタンダードは依然として外科手術です。完全切除が理想ですが、神経や血管としばしば絡み合っている腫瘍の複雑な解剖学的構造のため、達成できることはまれです。デバルキング（部分切除）は症状を緩和する可能性がありますが、これらの腫瘍はしばしば再生するため、長期的な緩和を保証するものではありません。手術に踏み切るかどうかは、腫瘍の特徴と患者の全身の状態を十分に評価した上で決定されます。選択的MEK1/2阻害薬であるKOSELUGOの承認は、2020年に症候性で手術不能なNF1-PNの小児患者に対する治療パラダイムに極めて重要な変化をもたらしました。KOSELUGOは現在、この病態に特化した適応でFDA承認された最初の、そして唯一の治療薬です。

• 主要7市場のNF1-PNの総市場規模は、2023年に約3億8,000万米ドルでした。これは2034年までに増加すると推定されます。
• 主要7市場では、米国が2023年に約2億3,000万米ドルと一貫してもっとも高い市場規模を獲得しており、予測期間も成長が見込まれます。
• 欧州4ヶ国・英国の中で、NF1-PNの市場シェアがもっとも高いのはドイツで、2023年に欧州4ヶ国・英国の市場シェアのうち約3,200万米ドルを占めると推定されました。
• 予測される新治療法の中では、mirdametinibが2034年までに主要7市場でもっとも高い市場規模を獲得すると予測されています。

当レポートでは、神経線維腫症1型関連叢状神経線維腫（NF1-PN）の主要7市場（米国、ドイツ、スペイン、イタリア、フランス、英国、日本）について調査分析し、各地域の市場規模、現在の治療法、アンメットニーズ、新薬などの情報を提供しています。

目次

第1章 重要考察

第2章 レポートのイントロダクション

第3章 NF1-PNのエグゼクティブサマリー

第4章 疫学と市場の調査手法

第5章 NF1-PN市場の概要

• 主要7市場のNF1-PNの市場シェアの分布：治療法別（2020年）
• 主要7市場のNF1-PNの市場シェアの分布：治療法別（2034年）

第6章 主な出来事

第7章 疾患の背景と概要

• イントロダクション
• 遺伝子変異
• 臨床症状
• 原因
• 診断
  • 鑑別診断
  • 診断アルゴリズム
  • 診断ガイドライン
• 治療と管理
  • 治療アルゴリズム

第8章 疫学と患者人口

• 主な調査結果
• 前提条件と根拠
• 主要7市場のNF1-PNと診断された総患者数
• 米国
• 欧州4ヶ国・英国
• 日本

第9章 ペイシェントジャーニー

第10章 上市済み薬品

• 主な競合
• KOSELUGO（SELUMETINIB）：ASTRAZENECA、MERCK
  • 製品の説明
  • 規制マイルストーン
  • その他の開発活動
  • 臨床開発
  • 安全性と有効性

第11章 新薬

• 主な競合
• MIRDAMETINIB（PD-0325901）：SPRINGWORKS THERAPEUTICS
  • 製品の説明
  • その他の開発活動
  • 臨床開発
  • 安全性と有効性
• FCN-159：FOSUN PHARMACEUTICAL
• HLX-1502：HEALX

第12章 NF1-PN：主要7市場の分析

• 主な調査結果
• 市場見通し
• コンジョイント分析
• 主な市場予測の前提条件
• 主要7市場のNF1-PNの総市場規模
• 米国
  • 米国のNF1-PNの総市場規模
  • 米国のNF1-PNの市場規模：治療法別
• 欧州4ヶ国・英国
  • 欧州4ヶ国・英国のNF1-PNの総市場規模
  • 欧州4ヶ国・英国のNF1-PNの市場規模：治療法別
• 日本
  • 日本のNF1-PNの総市場規模
  • 日本のNF1-PNの市場規模：治療法別

第13章 アンメットニーズ

第14章 SWOT分析

第15章 KOLの見解

第16章 市場参入と償還

• 米国
• 欧州4ヶ国・英国
  • ドイツ
  • フランス
  • イタリア
  • スペイン
  • 英国
• 日本
• NF1-PNの市場参入と償還

第17章 付録

第18章 DelveInsightの機能

第19章 免責事項

第20章 DelveInsightについて

List of Tables

• Table 1: Summary of NF1-PN - Market and Epidemiology (2020-2034)
• Table 2: Gene Mutations and Modifiers in NF1
• Table 3: Differential Diagnosis of NF1
• Table 4: Comparison of the NIH Diagnostic Clinical Criteria for NF1 From 1988 With the Newly Revised NF1 Diagnostic Criteria in 2021
• Table 5: Diagnosed Prevalent Cases of NF1-PN in the 7MM (2020-2034)
• Table 6: Total Diagnosed Prevalent Cases of NF1 in the United States (2020-2034)
• Table 7: Diagnosed Prevalent Cases of NF1 Manifestations in the United States (2020-2034)
• Table 8: Age-specific Diagnosed Prevalent Cases of NF1-PN in the United States (2020-2034)
• Table 9: NF1-PN Cases by Clinical Symptoms in the United States (2020-2034)
• Table 10: NF1-PN Cases Eligible for Surgery in the United States (2020-2034)
• Table 11: Total Diagnosed Prevalent Cases of NF1 in EU4 and the UK (2020-2034)
• Table 12: Diagnosed Prevalent Cases of NF1 Manifestations in EU4 and the UK (2020-2034)
• Table 13: Age-specific Diagnosed Prevalent Cases of NF1-PN in EU4 and the UK (2020-2034)
• Table 14: NF1-PN Cases by Clinical Symptoms in EU4 and the UK (2020-2034)
• Table 15: NF1-PN Cases Eligible for Surgery in EU4 and the UK (2020-2034)
• Table 16: Total Diagnosed Prevalent Cases of NF1 in Japan (2020-2034)
• Table 17: Diagnosed Prevalent Cases of NF1 Manifestations in Japan (2020-2034)
• Table 18: Age-specific Diagnosed Prevalent Cases of NF1-PN in Japan (2020-2034)
• Table 19: NF1-PN Cases by Clinical Symptoms in Japan (2020-2034)
• Table 20: NF1-PN Cases Eligible for Surgery in Japan (2020-2034)
• Table 21: Key Cross of Marketed Drugs
• Table 22: KOSELUGO (selumetinib), Clinical Trial Description, 2024
• Table 23: Comparison of Emerging Drugs Under Development
• Table 24: Mirdametinib (PD-0325901), Clinical Trial Description, 2024
• Table 25: FCN-159, Clinical Trial Description, 2024
• Table 26: HLX-1502, Clinical Trial Description, 2024
• Table 27: Key Market Forecast Assumption of NF1-PN in the United States
• Table 28: Key Market Forecast Assumption of NF1-PN in EU4 and the UK
• Table 29: Key Market Forecast Assumption of NF1-PN in Japan
• Table 30: Total Market Size of NF1-PN in the 7MM, in USD million (2020-2034)
• Table 31: Total Market Size of NF1-PN in the US, in USD million (2020-2034)
• Table 32: Market Size of NF1-PN by Therapies in the US, in USD million (2020-2034)
• Table 33: Total Market Size of NF1-PN in EU4 and the UK, in USD million (2020-2034)
• Table 34: Market Size of NF1-PN by Therapies in EU4 and the UK, in USD million (2020-2034)
• Table 35: Total Market Size of NF1-PN in Japan, in USD million (2020-2034)
• Table 36: Market Size of NF1-PN by Therapies in Japan, in USD million (2020-2034)
• Table 37: NICE Decisions for NF1-PN Therapies
• Table 38: Haute Autorite de Sante (HAS) Decisions for NF1-PN Therapies
• Table 39: AIFA Assessment for NF1-PN Therapies
• Table 40: NHI Pricing for NF1-PN Therapies

List of Figures

• Figure 1: Plexiform Neurofibroma Classification Schema
• Figure 2: Clinical Manifestations of NF1
• Figure 3: Occurrence of CALM and PN in NF1
• Figure 4: Neurofibromas in NF1 Patients
• Figure 5: Causes of NF1-PN
• Figure 6: Diagnosis of NF1-PN
• Figure 7: Diagnostic Algorithm
• Figure 8: Treatment Algorithm
• Figure 9: Total Diagnosed Prevalent Cases of NF1-PN in the 7MM (2020-2034)
• Figure 10: Total Diagnosed Prevalent Cases of NF1 in the United States (2020-2034)
• Figure 11: Diagnosed Prevalent Cases of NF1 Manifestations in the United States (2020-2034)
• Figure 12: Age-specific Diagnosed Prevalent Cases of NF1-PN in the United States (2020-2034)
• Figure 13: NF1-PN Cases by Clinical Symptoms in the United States (2020-2034)
• Figure 14: NF1-PN Cases Eligible for Surgery in the United States (2020-2034)
• Figure 15: Total Diagnosed Prevalent Cases of NF1 in EU4 and the UK (2020-2034)
• Figure 16: Diagnosed Prevalent Cases of NF1 Manifestations in EU4 and the UK (2020-2034)
• Figure 17: Age-specific Diagnosed Prevalent Cases of NF1-PN in EU4 and the UK (2020-2034)
• Figure 18: NF1-PN Cases by Clinical Symptoms in EU4 and the UK (2020-2034)
• Figure 19: NF1-PN Cases Eligible for Surgery in EU4 and the UK (2020-2034)
• Figure 20: Total Diagnosed Prevalent Cases of NF1 in Japan (2020-2034)
• Figure 21: Diagnosed Prevalent Cases of NF1 Manifestations in Japan (2020-2034)
• Figure 22: Age-specific Diagnosed Prevalent Cases of NF1-PN in Japan (2020-2034)
• Figure 23: NF1-PN Cases by Clinical Symptoms in Japan (2020-2034)
• Figure 24: NF1-PN Cases Eligible for Surgery in Japan (2020-2034)
• Figure 25: Total Market Size of NF1-PN in the 7MM, in USD million (2020-2034)
• Figure 26: Total Market Size of NF1-PN in the US, in USD million (2020-2034)
• Figure 27: Market Size of NF1-PN by Therapies in the US, in USD million (2020-2034)
• Figure 28: Total Market Size of NF1-PN in EU4 and the UK, in USD million (2020-2034)
• Figure 29: Market Size of NF1-PN by Therapies in EU4 and the UK, in USD million (2020-2034)
• Figure 30: Total Market Size of NF1-PN in Japan, in USD million (2020-2034)
• Figure 31: Market Size of NF1-PN by Therapies in Japan, in USD million (2020-2034)
• Figure 32: Health Technology Assessment
• Figure 33: Reimbursement Process in Germany
• Figure 34: Reimbursement Process in France
• Figure 35: Reimbursement Process in Italy
• Figure 36: Reimbursement Process in Spain
• Figure 37: Reimbursement Process in the United Kingdom
• Figure 38: Reimbursement Process in Japan

Key Highlights:

• In 2023, the total diagnosed prevalent cases of NF1 were around 97,000 in the US, and these cases are anticipated to increase by 2034. The rise in NF1 cases can be attributed to improved awareness, advancements in diagnostic techniques, and increased genetic testing accessibility.
• Plexiform neurofibromas are identified in about 30 to 50% of NF1 via whole-body MRI.
• As pediatric NF1 patients transition to adulthood, they will likely need support in shifting from pediatric care, typically provided by a pediatrician or neurooncologist, to an adult neurooncologist and care team. This transition can be challenging, especially for patients with cognitive difficulties and the added burden on caregivers.
• Surgery remains a standard treatment for many patients, but it is often complex, not always feasible, carries inherent risks, and has a high likelihood of recurrence. Additionally, some plexiform neurofibromas are deemed inoperable.
• The lack of disease-modifying treatments for pediatric NF1 patients with symptomatic, inoperable PNs, aside from surgery, severely impacts their quality of life. This includes issues like pain, reduced motor function, cognitive challenges, psychosocial struggles, and the potential for social stigma due to the visible appearance of the tumors.
• NF1 management in Japan relies mainly on supportive care, with analgesics and NSAIDs as the most common treatments. The findings highlight significant unmet needs, economic burdens, and the urgent demand for innovative treatment options.
• The need for multidisciplinary and specialized care in NF1-PN treatment highlights potential equity challenges, particularly due to geographical disparities across the 7MM.
• The availability of medical therapy as an alternative to surgery adds new dimensions to clinical decision-making and management strategies.
• The approval of KOSELUGO has transformed the treatment of children with inoperable NF1-PN tumors. Building on this progress, researchers are now exploring other MEK inhibitors for potential use in both pediatric and adult patients.
• KOSELUGO is only approved for pediatric patients but not adults, creating a treatment gap. Mirdametinib, in mid-stage trials, aims for approval in both pediatric and adult populations. Promising data from mirdametinib's Phase IIb ReNeu trial show significant tumor shrinkage and sustained improvements in quality of life for both pediatric and adult patients.
• Other MEK inhibitors like FCN-159 and early-stage candidate PAS-004 are under development, offering enhanced dosing and tolerability profiles.
• Emerging therapies aim to improve administration ease and minimize side effects, addressing current treatment limitations.
• PAS-004, with a 70-h half-life, offers the potential for once-daily dosing, unlike first-generation MEK inhibitors requiring twice-daily dosing and having shorter half-lives (<8 h).
• The evolving NF1-PN treatment landscape features clinical trials led by SpringWorks Therapeutics, Healx, and Fosun Pharmaceutical, along with university-sponsored trials in this patient segment.

DelveInsight's "NF1-PN - Market Insights, Epidemiology and Market Forecast - 2034" report delivers an in-depth understanding of the NF1-PN, historical and forecasted epidemiology as well as the NF1-PN market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The NF1-PN market report provides current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted 7MM NF1-PN market size from 2020 to 2034. The report also covers current NF1-PN treatment practices/algorithms and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market.

Geography Covered:

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2020-2034

NF1-PN Disease Understanding and Treatment Algorithm

NF1-PN Overview

NF1 is the most common tumor predisposition syndrome, caused by mutations in the NF1 gene, which leads to the loss of neurofibromin, a regulator of RAS activity. This results in the development of plexiform neurofibromas, peripheral nerve sheath tumors that cause significant morbidity in affected patients. Historically, surgery was the primary treatment for plexiform neurofibromas, but many tumors are inoperable or carry substantial surgical risks. With a better understanding of the genetic basis of plexiform neurofibromas, targeted therapies, such as the MEK inhibitor KOSELUGO, have emerged as promising options, particularly for pediatric patients with symptomatic, inoperable plexiform neurofibromas. Treatment for NF1-PN is highly individualized, with options including surgery, medical therapies, and watchful waiting. Decisions are guided by a multidisciplinary team, considering factors like tumor size, location, impact on surrounding tissues, and patient and family preferences.

NF1-PN Diagnosis

NF1-PN is often identified in early childhood, usually through visible signs such as cafe-au-lait spots or subtle tissue overgrowth. However, deeply situated plexiform neurofibromas can remain undetected until symptoms like pain emerge, requiring imaging for diagnosis. These tumors are complex, infiltrating surrounding tissues and posing challenges due to their irregular shapes and overvascularization. Plexiform neurofibromas often develop in critical areas, including the head, neck, chest, or spine, complicating surgical treatment and increasing risks such as bleeding. Diagnosis requires vigilance for early signs, timely imaging, and specialist input. A multidisciplinary approach involving genetics, neurology, radiology, and surgery is crucial for managing the disease's physical and emotional impact on pediatric patients and their families.

NF1-PN Treatment

Treating NF1-associated plexiform neurofibromas requires a multidisciplinary team, including dermatologists, oncologists, neurologists, surgeons, and orthopedists. Surgery can improve function or appearance but is often challenging due to tumor regrowth, involvement with vital structures, and bleeding risks from overvascularization. KOSELUGO, a MEK inhibitor approved by the FDA (2020) and EMA (2021) for children with NF1-PN, offers potential benefits but shows variable results. Radiation therapy is rarely used due to risks like malignant transformation into MPNST or worsening vascular issues. Early detection and personalized care are essential for effective management.

NF1-PN Epidemiology

The NF1-PN epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by total diagnosed prevalent cases of NF1, diagnosed prevalent cases of NF1 manifestations, and age-specific diagnosed prevalent cases of NF1-PN, NF1-PN cases by clinical symptoms, NF1-PN cases eligible for surgery in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), United Kingdom, and Japan from 2020 to 2034.

• Among the 7MM, the US accounted for the highest number of cases in 2023, with around 39,000 diagnosed prevalent cases of NF1-PN. These cases are expected to increase during the forecast period.
• Among EU4 and the UK, the highest number of cases of NF1-PN was found in Germany whereas the UK accounted for the lowest cases in 2023.
• In the US, around 30% of the NF1-PN cases accounted for children, whereas 70% of the cases accounted for adults in 2020.
• In the Japan, there were 5,500 operable cases and 3,900 inoperable cases of NF1-PN in 2023. These cases are expected to increase during the forecast period.

Neurofibromatosis type 1-associated plexiform neurofibromas (NF1-PN) Chapters

The drug chapter segment of the NF1-PN report encloses a detailed analysis of the marketed, mid and early-stage (Phase III, Phase II, and Phase I/II) pipeline drugs. The marketed drugs segment encloses only KOSELUGO. The current emerging candidates are mirdametinib, HLX-1502, and FCN-159. The drug chapter also helps understand the NF1-PN clinical trial details, expressive pharmacological action, agreements and collaborations, approval and patent details, and the latest news and press releases.

For example, in April 2024, Healx announced that it had signed an investment agreement with its long-term partner, the Children's Tumor Foundation (CTF).

Marketed Drugs

KOSELUGO (selumetinib): AstraZeneca and Merck

KOSELUGO is an inhibitor of MEK1/2. KOSELUGO blocks specific enzymes (MEK1 and MEK2), which are involved in stimulating cells to grow. In NF1, these enzymes are overactive, causing tumor cells to grow in an unregulated way. By blocking these enzymes, KOSELUGO slows down the growth of tumor cells. In April 2020, the FDA approved KOSELUGO for pediatric patients aged 2 and older with symptomatic, inoperable plexiform neurofibromas associated with NF1. In June 2021, the EU granted conditional approval for KOSELUGO in pediatric patients aged 3 and older with symptomatic, inoperable PN. In September 2022, Japan approved KOSELUGO for children aged 3 and older with clinically symptomatic PN that cannot be fully surgically removed without significant risk of morbidity. The drug has been granted ODD, BTD, and Rare Pediatric Disease Designation.

In November 2024, AstraZeneca and Merck announced positive topline results from the Phase III KOMET trial in adults with NF1 who have symptomatic, inoperable plexiform neurofibromas, and the companies plan to share these findings with regulatory authorities and present them at an upcoming medical meeting.

Emerging Drugs

Mirdametinib: SpringWorks Therapeutics

Mirdametinib is an investigational oral, allosteric, small-molecule MEK inhibitor in development as a monotherapy treatment for NF1-PN and Low-grade Glioma (LGG) and as a combination therapy for the treatment of several subsets of biomarker-defined metastatic solid tumors. It was designed to inhibit MEK1 and MEK2, which occupy pivotal positions in the MAPK pathway.

As per the Q3 presentation in November 2024, SpringWorks Therapeutics states the progress towards potential European regulatory approval in 2025. In August 2024, SpringWorks Therapeutics announced that the US FDA accepted the Company's NDA, which was submitted in July 2024, for mirdametinib for the treatment of adult and pediatric patients with NF1-PN. The NDA was granted Priority Review and has been given a PDUFA action date of February 28, 2025.

HLX-1502: Healx

HLX-1502 is a tablet taken orally that works differently than other treatments and offers a new and differentiated investigational treatment option for patients with NF1. Healx has secured the US FDA clearance for an Investigational New Drug application (IND) to commence a Phase II clinical trial of HLX-1502, targeting adults with NF1 and inoperable plexiform neurofibroma. Recently, in October 2024, Healx announced that the US FDA granted FTD to HLX-1502 for the treatment of NF1.

Drug Class Insights

MEK Inhibitors

NF1-associated plexiform neurofibromas present significant treatment challenges, often being inoperable or prone to regrowth. MEK inhibitors have established themselves as an effective treatment class for NF1-associated plexiform neurofibromas. With limited therapeutic options available, many adults with NF1-PN suffer from significant functional impairments and debilitating symptoms that profoundly affect their quality of life. Clinical evidence underscores KOSELUGO's potential to transform patient care by significantly reducing the size of plexiform neurofibromas. AstraZeneca and MSD's KOSELUGO, a MEK1/2 inhibitor, is the first and only FDA-approved therapy proven to reduce plexiform neurofibroma size in pediatric NF1 patients.

The MEK inhibitors that are in clinical trials include mirdametinib from SpringWorks Therapeutics and FCN-159 from Fosun Pharmaceutical. Additionally, innovative companies like Pasithea Therapeutics are expanding the pipeline with PAS-004, their proprietary MEK inhibitor. PAS-004 is an early-stage candidate. These developments represent a key advancement in managing NF1-PN, offering hope for more effective and less invasive therapies in the future.

NF1-PN Market Outlook

The treatment landscape for NF1-PN has historically been limited to surgical interventions, primarily complete resection or debulking. The tumors' size and location often complicate these approaches, with many being classified as inoperable due to their proximity to vital structures or their invasive nature. Approximately 50% of patients with NF1-PN face tumors that cannot be safely removed without significant risk of morbidity, necessitating a focus on symptomatic management rather than curative surgery.

Surgical options remain the gold standard for NF1-PN when feasible. Complete resection is ideal but rarely achievable due to the complex anatomy of these tumors, which often intertwine with nerves and blood vessels. Debulking, or partial removal, may alleviate symptoms but does not guarantee long-term relief, as these tumors frequently regrow. The decision to proceed with surgery is contingent upon a thorough evaluation of the tumor's characteristics and the patient's overall. The approval of KOSELUGO, a selective MEK1/2 inhibitor, marks a pivotal change in the treatment paradigm for pediatric patients with symptomatic, inoperable NF1-PN in 2020. KOSELUGO is currently the first and only FDA-approved therapy specifically indicated for this condition.

The landscape for treating NF1-PN is evolving rapidly as research continues to uncover the genetic underpinnings of these tumors. Emerging drugs like mirdametinib (SpringWorks Therapeutics), HLX-1502 (Healx), and FCN-159 (Fosun Pharmaceutical) are gaining significant attention in the treatment of NF1-PN, offering promising new avenues for patients with inoperable or symptomatic tumors. The launch of these therapies is expected to create a positive impact on the market.

• The total market size of NF1-PN in the 7MM was around USD 380 million in 2023. This is estimated to increase by 2034.
• Among the 7MM, the US consistently captured the highest market of about USD 230 million in 2023, which is anticipated to grow during the forecast period.
• Among EU4 and the UK, the highest market share for NF1-PN was found in Germany, which was estimated to be nearly 32 million of the market share in EU4 and the UK in 2023.
• Among the forecasted emerging therapies, mirdametinib is expected to capture the highest market in the 7MM by 2034.

NF1-PN Uptake

This section focuses on the rate of uptake of the potential drugs expected to be launched in the market during the study period 2020-2034. Mirdametinib is an investigational oral, allosteric, small-molecule MEK inhibitor in development as a monotherapy treatment developed by SpringWorks Therapeutics, anticipated to enter the market in 2025. Mirdametinib holds a first-mover advantage, particularly for adult patients, as no approved therapies currently exist for this population. Mirdametinib is positioning itself for approval in both pediatric and adult NF1-PN patients, setting it apart from other treatments that are primarily focused on children. This broader patient applicability strengthens mirdametinib's potential to lead in the market

NF1-PN Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III and and Phase II. It also analyzes key players involved in developing targeted therapeutics.

SpringWorks Therapeutics, Healx, and Fosun Pharmaceutical are actively evaluating their pipeline candidates for the treatment of NF1-PN in clinical trials.

Pipeline Development Activities

The report covers detailed information on collaborations, acquisitions and mergers, licensing, and patent details for NF1-PN emerging therapies.

KOL Views

To keep up with current market trends, we take KOLs and SMEs' opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on NF1-PN's evolving treatment landscape, patient reliance on conventional therapies, patient's therapy switching acceptability, and drug uptake along with challenges related to accessibility, include KOL from Children's Tumour Foundation, Associate Professor, Washington University School of Medicine in Saint Louis, Associate Professor, Cardiff University, and others.

Delveinsight's analysts connected with 30+ KOLs to gather insights. However, interviews were conducted with 10+ KOLs in the 7MM. Their opinion helps to understand and validate current and emerging therapies and treatment patterns or NF1-PN market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT analysis, and Conjoint Analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst's discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

Conjoint Analysis is done to analyze multiple approved and emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

Further, the therapies' safety is evaluated wherein the acceptability, tolerability, and adverse events are majorly observed, and it sets a clear understanding of the side effects posed by the drug in the trials. In addition, the scoring is also based on the route of administration, order of entry and designation, probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Market Access and Reimbursement

The United States

OneSource Personalized Patient Support From Alexion

OneSource is a free, personalized patient support program offered by Alexion. Whether the patient is newly diagnosed or has had their condition for some time, the specialists are available for patients and their caregivers. The support can help them make sense of their health insurance coverage, answer questions about treatment with KOSELUGO, and connect them to community resources.

At OneSource, a team of specialists are trained in NF1 and are ready to give patients the support they deserve-whatever their care plan may be.

Alexion KOSELUGO CoPay Program

The Alexion KOSELUGO CoPay program pays for eligible out-of-pocket medication with KOSELUGO up to USD 26,000 US dollars per calendar year. After reaching the maximum program benefit, the patient will be responsible for any remaining out-of-pocket costs incurred during that calendar year.

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of approved therapies, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Scope of the Report:

• The report covers a segment of key events, an executive summary, and a descriptive overview of NF1-PN, explaining its causes, signs and symptoms, and currently available therapies.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, disease progression, along treatment guidelines.
• Additionally, an all-inclusive account of both the current and emerging therapies, along with the elaborative profiles of mid-stage and prominent therapies, will have an impact on the current treatment landscape.
• A detailed review of the NF1-PN market; historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies by understanding trends through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help in shaping and driving the NF1-PN market.

NF1-PN Report Insights

• Patient Population
• Therapeutic Approaches
• NF1-PN Pipeline Analysis
• NF1-PN Market Size and Trends
• Existing and future Market Opportunity

NF1-PN Report Key Strengths

• 11 Years Forecast
• 7MM Coverage
• NF1-PN Epidemiology Segmentation
• Key Cross Competition
• Conjoint analysis
• Drugs Uptake and Key Market Forecast Assumptions

NF1-PN Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

FAQs:

• What was the NF1-PN market size, the market size by therapies, market share (%) distribution in 2023, and what would it look like by 2034? What are the contributing factors for this growth?
• What are the pricing variations among different geographies for approved therapies?
• What can be the future treatment paradigm of NF1-PN?
• What are the disease risks, burdens, and unmet needs of NF1-PN? What will be the growth opportunities across the 7MM concerning the patient population with NF1-PN?
• Who is the major competitor of KOSELUGO in the market?
• Which class performed better and generated the highest revenue in 2024?
• What are the current options for the treatment of NF1-PN? What are the current guidelines for treating NF1-PN in the US, Europe, and Japan?
• What are the recent novel therapies, targets, mechanisms of action, and technologies being developed to overcome the limitations of existing therapies?

Reasons to Buy:

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the NF1-PN Market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years
• To understand the existing market opportunity in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of approved products in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.
• Highlights of Access and Reimbursement policies of approved therapies, barriers to accessibility of off-label expensive therapies, and patient assistance programs.
• To understand the perspective of Key Opinion Leaders around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.

Table of Contents

1. KEY INSIGHTS

2. REPORT INTRODUCTION

3. EXECUTIVE SUMMARY OF NF1-PN

4. EPIDEMIOLOGY AND MARKET METHODOLOGY

5. NF1-PN MARKET OVERVIEW AT A GLANCE

• 5.1. MARKET SHARE (%) DISTRIBUTION OF NF1-PN BY THERAPIES IN 2020 IN THE 7MM
• 5.2. MARKET SHARE (%) DISTRIBUTION OF NF1-PN BY THERAPIES IN 2034 IN THE 7MM

6. KEY EVENTS

7. DISEASE BACKGROUND AND OVERVIEW

• 7.1. INTRODUCTION
• 7.2. GENETIC MUTATIONS
• 7.3. CLINICAL MANIFESTATIONS
• 7.4. CAUSES
• 7.5. DIAGNOSIS
  • 7.5.1. Differential Diagnosis
  • 7.5.2. Diagnostic Algorithm
  • 7.5.3. Diagnostic Guidelines
• 7.6. TREATMENT AND MANAGEMENT
  • 7.6.1. Treatment Algorithm

8. EPIDEMIOLOGY AND PATIENT POPULATION

• 8.1. KEY FINDINGS
• 8.2. ASSUMPTION AND RATIONALE
• 8.3. TOTAL DIAGNOSED PREVALENT CASES OF NF1-PN IN THE 7MM
• 8.4. THE UNITED STATES
  • 8.4.1. Total Diagnosed Prevalent Cases of NF1 in the United States
  • 8.4.2. Diagnosed Prevalent Cases of NF1 Manifestations in the United States
  • 8.4.3. Age-specific Diagnosed Prevalent Cases of NF1-PN in the United States
  • 8.4.4. NF1-PN Cases by Clinical Symptoms in the United States
  • 8.4.5. NF1-PN Cases Eligible for Surgery in the United States
• 8.5. EU4 AND THE UK
  • 8.5.1. Total Diagnosed Prevalent Cases of NF1 in EU4 and the UK
  • 8.5.2. Diagnosed Prevalent Cases of NF1 Manifestations in EU4 and the UK
  • 8.5.3. Age-specific Diagnosed Prevalent Cases of NF1-PN in EU4 and the UK
  • 8.5.4. NF1-PN Cases by Clinical Symptoms in EU4 and the UK
  • 8.5.5. NF1-PN Cases Eligible for Surgery in EU4 and the UK
• 8.6. JAPAN
  • 8.6.1. Total Diagnosed Prevalent Cases of NF1 in Japan
  • 8.6.2. Diagnosed Prevalent Cases of NF1 Manifestations in Japan
  • 8.6.3. Age-specific Diagnosed Prevalent Cases of NF1-PN in Japan
  • 8.6.4. NF1-PN Cases by Clinical Symptoms in Japan
  • 8.6.5. NF1-PN Cases Eligible for Surgery in Japan

9. PATIENT JOURNEY

10. MARKETED DRUGS

• 10.1. KEY CROSS COMPETITION
• 10.2. KOSELUGO (SELUMETINIB): ASTRAZENECA AND MERCK
  • 10.2.1. Product Description
  • 10.2.2. Regulatory Milestones
  • 10.2.3. Other Development Activities
  • 10.2.4. Clinical Development
  • 10.2.5. Safety and Efficacy

11. EMERGING DRUGS

• 11.1. KEY CROSS COMPETITION
• 11.2. MIRDAMETINIB (PD-0325901): SPRINGWORKS THERAPEUTICS
  • 11.2.1. Product Description
  • 11.2.2. Other Developmental Activities
  • 11.2.3. Clinical Development
  • 11.2.4. Safety and Efficacy
• 11.3. FCN-159: FOSUN PHARMACEUTICAL
  • 11.3.1. Product Description
  • 11.3.2. Clinical Development
  • 11.3.3. Safety and Efficacy
• 11.4. HLX-1502: HEALX
  • 11.4.1. Product Description
  • 11.4.2. Other Developmental Activities
  • 11.4.3. Clinical Development

12. NF1-PN: SEVEN MAJOR MARKET ANALYSIS

• 12.1. KEY FINDINGS
• 12.2. MARKET OUTLOOK
• 12.3. CONJOINT ANALYSIS
• 12.4. KEY MARKET FORECAST ASSUMPTIONS
  • 12.4.1 . Cost Assumptions and Rebates
  • 12.4.2. Pricing Trends
  • 12.4.3. Analogue Assessment
  • 12.4.4 . Launch Year and Therapy Uptakes
• 12.5. TOTAL MARKET SIZE OF NF1-PN IN THE 7MM
• 12.6. THE UNITED STATES
  • 12.6.1. Total Market Size of NF1-PN in the US
  • 12.6.2. Market Size of NF1-PN by Therapies in the US
• 12.7. EU4 AND THE UK
  • 12.7.1. Total Market Size of NF1-PN in the EU4 and the UK
  • 12.7.2. Market Size of NF1-PN by Therapies in EU4 and the UK
• 12.8. JAPAN
  • 12.8.1. Total Market Size of NF1-PN in Japan
  • 12.8.2. Market Size of NF1-PN by Therapies in Japan

13. UNMET NEEDS

14. SWOT ANALYSIS

15. KOL VIEWS

16. MARKET ACCESS AND REIMBURSEMENT

• 16.1. UNITED STATES
  • 16.1.1. Centre for Medicare and Medicaid Services (CMS)
• 16.2. EU4 AND THE UK
  • 16.2.1. Germany
  • 16.2.2. France
  • 16.2.3. Italy
  • 16.2.4. Spain
  • 16.2.5. United Kingdom
• 16.3. JAPAN
  • 16.3.1. MHLW
• 16.4. MARKET ACCESS AND REIMBURSEMENT OF NF1-PN

17. APPENDIX

• 17.1. BIBLIOGRAPHY
• 17.2. REPORT METHODOLOGY

18. DELVEINSIGHT CAPABILITIES

19. DISCLAIMER

20. ABOUT DELVEINSIGHT