Neurofibromatosis Type 1 Market

Market Overview:

The 7 major neurofibromatosis type 1 markets reached a value of USD 433.7 Million in 2024. Looking forward, IMARC Group expects the 7MM to reach USD 1,676.4 Million by 2035, exhibiting a growth rate (CAGR) of 13.10% during 2025-2035.

The neurofibromatosis type 1 market has been comprehensively analyzed in IMARC's new report titled "Neurofibromatosis Type 1 Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". Neurofibromatosis Type 1 (NF1) is a multi-factorial genetic disease due to mutations in the NF1 gene that results in out-of-control growth of tumors along nerves within the skin, brain, and other parts of the body. NF1 is one of the most common neurogenetic diseases with an approximate prevalence of 1 in 3,000 individuals globally. NF1 normally develops during early childhood and worsens throughout a patient's lifetime. Symptoms vary from harmless neurofibromas, café-au-lait spots, and armpit or groin freckling to more serious complications of optic gliomas, bone deformities, learning difficulties, and malignant peripheral nerve sheath tumors (MPNSTs). Some have minimal symptoms, while others have life-threatening complications. The diagnosis relies on clinical criteria, genetic analysis, and imaging tests such as MRI to identify tumor growth. Early detection is paramount to enable prompt intervention and enhanced management of the disease. Given its unpredictable nature, NF1 demands lifelong monitoring and multidisciplinary management including neurologists, geneticists, and oncologists. A cure is nonexistent despite the landmark advances, a reminder of the critical need for new therapeutic paradigms.

Increased incidence of NF1 and increased awareness about its diagnosis and treatment are the major drivers of market growth. Improved genetic testing and early diagnosis have enhanced NF1 patient identification, allowing for timely intervention and minimizing disease-related complications. Targeted therapies, including MEK inhibitors such as selumetinib, have revolutionized the treatment by lowering tumor burden and enhancing patient outcomes. Moreover, continuous clinical trials conducted for gene therapy, immunotherapy, and small-molecule inhibitors provide potential options for future therapies. Increasing utilization of multidisciplinary care protocols involving neurologists, geneticists, and pediatricians further improving disease management is also fuelling market growth. Government programs, funding for research, and patient advocacy are also playing a part in this market growth. Increased investments in rare disease drug development and regulatory incentives in the form of orphan drug designations are urging pharmaceutical firms to innovate here. Even with all the advances, issues like exorbitant costs of treatment, restricted access to specialized treatments, and no final cure persist in affecting patient outcomes and market expansion.

IMARC Group's new report provides an exhaustive analysis of the neurofibromatosis type 1 market in the United States, EU4 (Germany, Spain, Italy, and France), United Kingdom, and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario, unmet medical needs, etc., have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the neurofibromatosis type 1 market in any manner.

Recent Developments:

• In February 2025, the FDA approved mirdametinib (Gomekli) for NF1-related plexiform neurofibromas. The ReNeu trial demonstrated response rates of 41% (adults) and 52% (pediatrics). The side effects most frequently seen were rash, diarrhea, nausea, and musculoskeletal pain.
• In September 2023, Healx's HLX-1502 was granted FDA Orphan Drug Designation for the treatment of NF1. Aiming to meet unmet needs, the AI-devised drug targets plexiform and cutaneous NF1. Clinical trials are set to start in 2024 after an Investigational New Drug application.

Key Highlights:

• Affecting about 1 in 3,000 people worldwide, NF1 is among the most frequently occurring neurogenetic conditions.
• Life expectancy for NF1 patients is lower, averaging 55.5 years, primarily due to cancer-related complications and vascular issues.
• NF1 patients face a higher likelihood of developing malignant peripheral nerve sheath tumors (MPNSTs), significantly increasing mortality linked to soft tissue cancers.
• Around 5% of NF1-related deaths occur before 17, and 25% before 36, demonstrating its substantial effect on younger individuals.
• In early 2025, the FDA approved mirdametinib (Gomekli) for NF1, showing promising tumor reduction rates in both pediatric and adult patients.

Drugs:

HLX-1502 is a small-molecule oral treatment being researched for Neurofibromatosis Type 1 (NF1). HLX-1502 targets the tumor growth process by regulating mitochondrial function. In Phase II trials, HLX-1502 has gained FDA Fast Track, Orphan Drug, and Rare Pediatric Disease designations due to its therapeutic potential in NF1.

Koselugo (selumetinib) is an oral MEK inhibitor created by AstraZeneca, indicated for the treatment of pediatric patients two years and older with neurofibromatosis type 1 (NF-1) and symptomatic, inoperable plexiform neurofibromas. It works by inhibiting the MAPK/ERK pathway to shrink the tumor and related symptoms.

Gomekli (mirdametinib) is an oral MEK inhibitor from SpringWorks Therapeutics for neurofibromatosis type 1 (NF1) with symptomatic plexiform neurofibromas (PN). It is indicated for patients 2 years and older, showing extensive tumor reduction and sustained responses, offering a valuable treatment choice for NF1-PN cases where surgery is not an option.

Time Period of the Study

• Base Year: 2024
• Historical Period: 2019-2024
• Market Forecast: 2025-2035

Countries Covered

• United States
• Germany
• France
• United Kingdom
• Italy
• Spain
• Japan

Analysis Covered Across Each Country

• Historical, current, and future epidemiology scenario
• Historical, current, and future performance of the neurofibromatosis type 1 market
• Historical, current, and future performance of various therapeutic categories in the market
• Sales of various drugs across the neurofibromatosis type 1 market
• Reimbursement scenario in the market
• In-market and pipeline drugs

Competitive Landscape:

This report also provides a detailed analysis of the current neurofibromatosis type 1 marketed drugs and late-stage pipeline drugs.

In-Market Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

*Kindly note that the drugs in the above table only represent a partial list of marketed/pipeline drugs, and the complete list has been provided in the report.

Key Questions Answered in this Report:

Market Insights

• How has the neurofibromatosis type 1 market performed so far and how will it perform in the coming years?
• What are the markets shares of various therapeutic segments in 2024 and how are they expected to perform till 2035?
• What was the country-wise size of the neurofibromatosis type 1 market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the neurofibromatosis type 1 market across the seven major markets and what will be the expected growth over the next ten years?
• What are the key unmet needs in the market?

Epidemiology Insights

• What is the number of prevalent cases (2019-2035​) of neurofibromatosis type 1 across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of neurofibromatosis type 1 by age across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of neurofibromatosis type 1 by gender across the seven major markets?
• How many patients are diagnosed (​2019-2035​) with neurofibromatosis type 1 across the seven major markets?
• What is the size of the neurofibromatosis type 1 patient pool (2019-2024) across the seven major markets?
• What would be the forecasted patient pool (2025-2035) across the seven major markets?
• What are the key factors driving the epidemiological trend of neurofibromatosis type 1?
• What will be the growth rate of patients across the seven major markets?

Neurofibromatosis Type 1: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

• What are the current marketed drugs and what are their market performance?
• What are the key pipeline drugs and how are they expected to perform in the coming years?
• How safe are the current marketed drugs and what are their efficacies?
• How safe are the late-stage pipeline drugs and what are their efficacies?
• What are the current treatment guidelines for neurofibromatosis type 1 drugs across the seven major markets?
• Who are the key companies in the market and what are their market shares?
• What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the neurofibromatosis type 1 market?
• What are the key regulatory events related to the neurofibromatosis type 1 market?
• What is the structure of clinical trial landscape by status related to the neurofibromatosis type 1 market?
• What is the structure of clinical trial landscape by phase related to the neurofibromatosis type 1 market?
• What is the structure of clinical trial landscape by route of administration related to the neurofibromatosis type 1 market?