급성 간헐성 포르피린증 : 시장 인사이트, 역학, 예측(2034년)

Key Highlights:

• The AIP market is anticipated to sustain a steady Compound Annual Growth Rate (CAGR) during the forecast period (2025-2034). This growth is driven by increased disease awareness and earlier diagnosis through advanced genetic testing, the introduction and uptake of RNA interference therapies offering superior efficacy and reduced administration burden, and robust regulatory incentives such as orphan drug designation and expedited approval pathways.
• The increasing cases of AIP may be attributed to a combination of factors, including enhanced clinician and patient awareness prompting more frequent screening, wider availability of biochemical and genetic tests that detect both symptomatic and asymptomatic carriers, improved lab infrastructure enabling faster confirmation of attacks, and heightened recognition of common triggers-such as certain medications, fasting, hormonal changes, and stress-that leads to earlier diagnostic evaluation.
• GIVLAARI and PANHEMATIN exemplify complementary therapeutic strategies for AIP: GIVLAARI is a subcutaneous siRNA targeting hepatic ALAS1 that provides sustained reduction in neurotoxic porphyrin precursors with once-monthly dosing but necessitates regular liver-function monitoring and assessment of long-term safety, while PANHEMATIN delivers intravenous hemin to rapidly replenish heme during acute attacks in hospitalized settings, offering immediate symptom relief but requiring infusion infrastructure and limiting outpatient use.
• The AIP pipeline remains limited, primarily due to the disease's low prevalence, high development costs, and the clinical effectiveness of existing therapies like GIVLAARI and PANHEMATIN, which collectively reduce the urgency and commercial incentive for further innovation.

DelveInsight's comprehensive report titled "Acute Intermittent Porphyria (AIP) - Market Insights, Epidemiology, and Market Forecast - 2034" offers a detailed analysis of AIP. The report presents historical and projected epidemiological data covering total prevalent cases of acute intermittent porphyria, total diagnosed prevalent cases of acute intermittent porphyria, gender-specific cases of acute intermittent porphyria, and treated cases of acute intermittent porphyria. In addition to epidemiology, the market report encompasses various aspects related to the patient population. These aspects include the diagnosis process, prescription patterns, physician perspectives, market accessibility, treatment options, and prospective developments in the market across seven major markets: the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan, spanning from 2020 to 2034.

The report analyzes the existing treatment practices and unmet medical requirements in AIP. It evaluates the market potential and identifies potential business prospects for enhancing therapies or interventions. This valuable information enables stakeholders to make well-informed decisions regarding product development and strategic planning for the market.

Acute Intermittent Porphyria Overview

Acute intermittent porphyria (AIP) is the most common and severe form of acute porphyria, arising from a deficiency of the enzyme porphobilinogen deaminase-also known as hydroxymethylbilane synthase (HMBS)-in the heme biosynthesis pathway. Like most porphyrias, AIP is inherited in an autosomal dominant pattern and results in episodic neurovisceral symptoms due to accumulation of toxic heme precursors. These acute attacks are triggered by upregulation of ALA synthase and typically present with abdominal pain, neuropathies, and gastrointestinal disturbances, but without the cutaneous manifestations seen in other porphyrias.

Acute Intermittent Porphyria Diagnosis and Treatment Algorithm

Diagnosis of AIP is based on detecting elevated urinary porphobilinogen (PBG) in a random, light-protected urine sample, with values often rising to 50-200 mg during acute attacks. Confirmation requires quantitative measurement of PBG, aminolevulinic acid (ALA), and total porphyrins from the same sample, ideally collected at the peak of symptoms, though elevated levels may persist for weeks to months post-attack unless hemin therapy has been recently administered. Low PBG levels (0-4 mg/L) during symptoms effectively rule out acute porphyria. Plasma fluorescence scanning showing a 619 nm peak supports diagnosis, while mild laboratory abnormalities such as hyponatremia, hypomagnesemia, and leukocytosis are often present. Genetic testing-particularly sequencing of the HMBS gene-can confirm diagnosis and aid in family screening, though it is not essential for initial diagnosis.

Treatment of AIP centers on early diagnosis, avoidance of precipitating factors, and prompt symptom-oriented management during acute attacks. Initial therapy includes high-carbohydrate intake or intravenous dextrose to suppress ALAS1 activity, alongside symptomatic control with opioids for pain, antiemetics, and agents for hypertension or seizures as needed. The specific treatment is intravenous heme, which restores hepatic heme levels and downregulates ALAS1 to reduce precursor accumulation; it is typically administered for 3-4 days but carries risks with long-term use, including iron overload, hepatic fibrosis, and tolerance. Orthotopic liver transplantation remains the only curative option for patients with severe, recurrent attacks. Investigational therapies such as enzyme replacement and gene therapy are under study but face challenges related to stability and hepatic targeting.

Acute Intermittent Porphyria Epidemiology

The epidemiology section of the AIP market report offers information on the patient populations, including historical and projected trends for each of the seven major markets. Examining key opinion leader views from physicians or clinical experts can assist in identifying the reasons behind historical and projected trends. The diagnosed patient pool, their trends, and the underlying assumptions are all included in this section of the report.

This section also presents the data with relevant tables and graphs, offering a clear and concise view of the prevalence of AIP. Additionally, the report discloses the assumptions made during the analysis, ensuring data interpretation and presentation transparency. This epidemiological data is valuable for understanding the disease burden and its impact on the patient population across various regions.

Key Findings

In Europe, the combined prevalence of acute porphyrias is estimated at around 5 cases per 10,000 individuals, with AIP being the most common acute subtype, showing a prevalence of approximately 1 in 2,000.

According to the secondary research, AIP affects women more frequently than men, with a reported female-to-male ratio ranging from approximately 1.5:1 to 2:1.

In Germany, the 2-year prevalence of porphyria was estimated at approximately 79.89 cases per 1,000,000 individuals.

As per the analysis, the estimated prevalence of overt AIP-defined as symptomatic cases presenting with acute attacks-is approximately 1 in 132,000 individuals in France.

In Spain, the prevalence of AIP is estimated at approximately 6.3 cases per million inhabitants.

In Italy, the overall prevalence of porphyrias is estimated at approximately 27.2 cases per million, with AIP showing a prevalence of around 6 cases per million.

As per the analysis, the prevalence of AIP in Japan is estimated at approximately 0.36 cases per 100,000 population.

The epidemiology of AIP is expected to change during the forecast period (2025-2034).

Acute Intermittent Porphyria Market Outlook

The AIP therapeutics market is further expected to increase by the major drivers, such as the rising prevalence population, technological advancements, and upcoming therapies in the forecast period (2025-2034).

With ongoing research and continued dedication, the future holds hope for even more effective treatments and, ultimately, a cure for this challenging condition. According to DelveInsight, the AIP market in the 7MM is expected to change significantly during the forecast period 2025-2034.

Acute Intermittent Porphyria Drug Chapters

Marketed Acute Intermittent Porphyria Drugs

GIVLAARI (givosiran): Alnylam Pharmaceuticals

GIVLAARI (givosiran) is an aminolevulinate synthase 1-directed small interfering RNA approved for the treatment of adults with acute hepatic porphyria (AHP). It is administered as a subcutaneous injection at a recommended dose of 2.5 mg/kg once monthly. The drug received US FDA approval in November 2019, EU marketing authorisation in March 2020, and was approved in Japan in June 2021 as a new active ingredient for AHP. GIVLAARI holds orphan drug designation in the US, EU, and Japan.

PANHEMATIN and NORMOSANG (hemin for injection): Recordati Rare Diseases

PANHEMATIN and NORMOSANG are both intravenous hemin formulations used to treat acute attacks of AIP, but they differ in composition and formulation. PANHEMATIN is a lyophilized form of hemin reconstituted with human albumin before administration, while NORMOSANG is a stabilized heme arginate formulation that does not require albumin for solubilization. Despite these differences, both drugs act by replenishing the hepatic heme pool to downregulate ALA synthase and suppress toxic precursor accumulation. PANHEMATIN is the only approved hemin-based therapy in the US, whereas NORMOSANG is authorized for use in the EU and UK. Neither is approved in Japan, though access may be granted through special or compassionate use programs.

Acute Intermittent Porphyria Market Segmentation

DelveInsight's 'Acute Intermittent Porphyria - Market Insights, Epidemiology, and Market Forecast - 2034' report provides a detailed outlook of the current and future AIP market, segmented within countries, by therapies, and by classes. Further, the market of each region is then segmented by each therapy to provide a detailed view of the current and future market share of all therapies.

Acute Intermittent Porphyria Market Size by Countries

The AIP market size is assessed separately for various countries, including the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan. In 2024, the United States held a significant share of the overall 7MM (Seven Major Markets) AIP market, primarily attributed to the country's higher prevalence of the condition and the elevated cost of the available treatments. This dominance is projected to persist, especially with the potential early introduction of new products.

Acute Intermittent Porphyria Market Size by Therapies

Acute Intermittent Porphyria Market Size by Therapies is categorized into current and emerging markets for the study period 2020-2034.

Acute Intermittent Porphyria Drugs Uptake

This section focuses on the sales uptake of potential AIP drugs that have recently been launched or are anticipated to be launched in the AIP market between 2020 and 2034. It estimates the market penetration of AIP drugs for a given country, examining their impact within and across classes and segments. It also touches upon the financial and regulatory decisions contributing to the probability of success (PoS) of the drugs in the AIP market.

The emerging AIP therapies are analyzed based on various attributes such as safety and efficacy in randomized clinical trials, order of entry and other market dynamics, and the unmet need they fulfill in the AIP market.

Acute Intermittent Porphyria Market Access and Reimbursement

DelveInsight's 'Acute Intermittent Porphyria - Market Insights, Epidemiology, and Market Forecast - 2034' report provides a descriptive overview of the market access and reimbursement scenario of AIP.

This section includes a detailed analysis of the country-wise healthcare system for each therapy, enlightening the market access, reimbursement policies, and health technology assessments.

KOL Views

To keep up with current AIP market trends and fill gaps in secondary findings, we interview KOLs and SMEs' working in the AIP domain. Their opinion helps understand and validate current and emerging therapies and treatment patterns or AIP market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the AIP unmet needs.

Acute Intermittent Porphyria: KOL Insights

DelveInsight's analysts connected with 25+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as Mercer University, US, University Hospital Tubingen, Germany, University of Barcelona, Barcelona, Spain, ellvitge-Idibell University Hospital, Barcelona, Spain, University of Leeds, Leeds, UK, and University of Occupational and Environmental Health, Japan, among others.

"AIP results from mutations in the HMBS gene on chromosome 11q24.1-q24.2, causing about 50% deficiency in the enzyme and leading to hepatic accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) during acute attacks due to ALAS1 induction. A total of 391 HMBS mutations have been identified, establishing the molecular basis of AIP."

"In AIP, the accumulation of ALA and PBG leads to neurologic and psychiatric symptoms, including peripheral and autonomic neuropathies. Although most individuals with the genetic defect remain asymptomatic, a 2017 study found that symptomatic patients show reduced insulin, C-peptide, and kidney function markers, linking systemic inflammation and impaired metabolism to disease expression."

"Acute attacks in AIP typically begin with severe epigastric abdominal pain, followed by psychiatric symptoms and peripheral neuropathies that may resemble Guillain-Barre syndrome. While traditionally thought to be symptom-free between attacks, 20% to 64% of patients experience chronic issues such as pain, nausea, fatigue, and neuropathic sensations, indicating a sustained disease burden."

Competitive Intelligence Analysis

We conduct a Competitive and Market Intelligence analysis of the AIP Market, utilizing various Competitive Intelligence tools such as SWOT analysis and Market entry strategies. The inclusion of these analyses is contingent upon data availability, ensuring a comprehensive and well-informed assessment of the market landscape and competitive dynamics.

Acute Intermittent Porphyria Pipeline Development Activities

The report offers an analysis of therapeutic candidates in Phase II and I stages and examines companies involved in developing targeted therapeutics for AIP. It provides valuable insights into the advancements and progress of potential treatments in clinical development for this condition.

Pipeline Development Activities

The report covers information on collaborations, acquisition and merger, licensing, patent details, and other information for emerging AIP therapies.

Acute Intermittent Porphyria Report Insights

• Acute Intermittent Porphyria Patient Population
• Therapeutic Approaches
• Acute Intermittent Porphyria Pipeline Analysis
• Acute Intermittent Porphyria Market Size and Trends
• Acute Intermittent Porphyria Market Opportunities
• Impact of Upcoming Therapies

Acute Intermittent Porphyria Report Key Strengths

• 10 Years Forecast
• The 7MM Coverage
• Acute Intermittent Porphyria Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed Acute Intermittent Porphyria Market
• Acute Intermittent Porphyria Drugs Uptake

Acute Intermittent Porphyria Report Assessment

• Acute Intermittent Porphyria Current Treatment Practices
• Unmet Needs
• Acute Intermittent Porphyria Pipeline Product Profiles
• Acute Intermittent Porphyria Market Attractiveness

Key Questions:

• How common is AIP?
• What are the key findings of AIP epidemiology across the 7MM, and which country will have the highest number of patients during the study period (2020-2034)?
• What are the currently available treatments for AIP?
• What are the disease risk, burden, and unmet needs of AIP?
• At what CAGR is the AIP market and its epidemiology is expected to grow in the 7MM during the forecast period (2025-2034)?
• How would the unmet needs impact the AIP market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of AIP in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?
• Among EU4 and the UK, which country will have the highest number of patients during the forecast period (2025-2034)?
• How many companies are currently developing therapies for the treatment of AIP?

Reasons to buy:

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the AIP 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 current treatment 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 attribute 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.

Frequently Asked Questions:

1. What are the treatment goals for AIP?

The primary objectives in treating AIP are to rapidly halt acute neurovisceral attacks, prevent complications, and reduce the frequency of future episodes. This is achieved by suppressing hepatic overproduction of porphyrin precursors through intravenous hemin administration or glucose infusion, which downregulate hepatic ALA synthase 1. Prompt treatment minimizes the risk of progression to severe neuropathy, respiratory failure, or long-term disability. In recurrent cases, prophylactic therapies aim to maintain metabolic stability and improve quality of life.

2. What are the challenges in managing AIP?

Managing AIP presents challenges such as delayed diagnosis due to nonspecific symptoms, difficulty distinguishing it from other acute abdominal or neurological conditions, and limited access to specialized biochemical testing. Additionally, attacks can be life-threatening if not promptly treated, and some patients experience frequent recurrences requiring long-term management. Identifying and avoiding trigger factors-such as certain drugs, hormonal fluctuations, fasting, or stress-also adds complexity to care.

3. What are the key factors driving the growth of the AIP market?

The AIP market is driven by rising disease awareness and early genetic diagnosis expanding the treated population; regulatory incentives-such as orphan drug status and expedited pathways-reducing development risk; the advent of targeted RNA interference therapies offering improved efficacy and lower treatment burden; and broader healthcare system support enabling greater patient access and sustained growth.

4. How will the Acute Intermittent Porphyria Market and Epidemiology Forecast Report benefit the clients?

The report will provide comprehensive insights into the current AIP market landscape, emerging therapies, competitive dynamics, regulatory requirements, and market access considerations, enabling informed decision-making, strategic planning, and optimization of business strategies to capitalize on market opportunities and drive growth.

Table of Contents

1. Key Insights

2. Report Introduction

3. Market Overview at a Glance

• 3.1. Market Share (%) Distribution by Therapies in 2024
• 3.2. Market Share (%) Distribution by Therapies in 2034

4. Epidemiology and Market Methodology

5. Executive Summary

6. Key Events

7. Disease Background and Overview

• 7.1. Introduction
• 7.2. Types
• 7.3. Causes
• 7.4. Pathophysiology
• 7.5. Symptoms
• 7.6. Risk Factor
• 7.7. Diagnosis
  • 7.7.1. Diagnostic Algorithm
  • 7.7.2. Diagnostic Guidelines
• 7.8. Treatment and Management
  • 7.8.1. Treatment Algorithm
  • 7.8.2. Treatment Guidelines

8. Epidemiology and Patient Population

• 8.1. Key Findings
• 8.2. Assumptions and Rationale: The 7MM
• 8.3. Total Diagnosed Prevalent Cases of Acute Intermittent Porphyria in the 7MM
• 8.4. The US
  • 8.4.1. Total Prevalent Cases of Acute Intermittent Porphyria
  • 8.4.2. Total Diagnosed Prevalent Cases of Acute Intermittent Porphyria
  • 8.4.3. Gender-specific Cases of Acute Intermittent Porphyria
  • 8.4.4. Treated Cases of Acute Intermittent Porphyria
• 8.5. EU4 and the UK
  • 8.5.1. Total Prevalent Cases of Acute Intermittent Porphyria
  • 8.5.2. Total Diagnosed Prevalent Cases of Acute Intermittent Porphyria
  • 8.5.3. Gender-specific Cases of Acute Intermittent Porphyria
  • 8.5.4. Treated Cases of Acute Intermittent Porphyria
• 8.6. Japan
  • 8.6.1. Total Prevalent Cases of Acute Intermittent Porphyria
  • 8.6.2. Total Diagnosed Prevalent Cases of Acute Intermittent Porphyria
  • 8.6.3. Gender-specific Cases of Acute Intermittent Porphyria
  • 8.6.4. Treated Cases of Acute Intermittent Porphyria

9. Patient Journey

10. Marketed Therapies

• 10.1. Key Cross Competition
• 10.2. GIVLAARI (givosiran): Alnylam Pharmaceuticals
  • 10.2.1. Drug Description
  • 10.2.2. Regulatory Milestones
  • 10.2.3. Other Development Activities
  • 10.2.4. Clinical Trials Information
  • 10.2.5. Safety and Efficacy
• 10.3. PANHEMATIN and NORMOSANG (hemin for injection): Recordati Rare Diseases
  • 10.3.1. Drug Description
  • 10.3.2. Regulatory Milestones
  • 10.3.3. Other Development Activities
  • 10.3.4. Clinical Trials Information
  • 10.3.5. Safety and Efficacy

11. Acute Intermittent Porphyria: Seven Major Market Analysis

• 11.1. Key Findings
• 11.2. Key Market Forecast Assumptions
  • 11.2.1. Cost Assumptions and Rebates
  • 11.2.2. Pricing Trends
  • 11.2.3. Analogue Assessment
  • 11.2.4. Launch Year and Therapy Uptake
• 11.3. Market Outlook
• 11.4. Attribute Analysis
• 11.5. Total Market Size of Acute Intermittent Porphyria in the 7MM
• 11.6. Market Size of Acute Intermittent Porphyria by Therapies in the 7MM
• 11.7. The US Market Size
  • 11.7.1. Total Market Size of Acute Intermittent Porphyria
  • 11.7.2. Market Size of Acute Intermittent Porphyria by Therapies
• 11.8. Market Size of Acute Intermittent Porphyria in the EU4 and the UK
  • 11.8.1. Total Market Size of Acute Intermittent Porphyria
  • 11.8.2. Market Size of Acute Intermittent Porphyria by Therapies
• 11.9. Japan Market Size
  • 11.9.1. Total Market Size of Acute Intermittent Porphyria
  • 11.9.2. Market Size of Acute Intermittent Porphyria by Therapies

12. Key Opinion Leaders' Views

13. Unmet Needs

14. SWOT Analysis

15. Acute Intermittent Porphyria Market Access and Reimbursement

• 15.1. United States
  • 15.1.1. Centre for Medicare and Medicaid Services (CMS)
• 15.2. EU4 and the UK
  • 15.2.1. Germany
  • 15.2.2. France
  • 15.2.3. Italy
  • 15.2.4. Spain
  • 15.2.5. United Kingdom
• 15.3. Japan
  • 15.3.1. MHLW

16. Appendix

• 16.1. Bibliography
• 16.2. Abbreviations and Acronyms
• 16.3. Report Methodology

17. DelveInsight Capabilities

18. Disclaimer

19. About DelveInsight