상염색체 열성 선천성 어린선 시장 - 인사이트, 역학, 예측(2034년)

Key Highlights:

• Autosomal recessive congenital ichthyoses (ARCI) are genetically driven skin disorders marked by varying levels of scaling and often accompanied by redness. Symptom severity differs among individuals due to mutations in different genes, and the condition significantly impacts patients' quality of life.
• According to the secondary analysis, the overall prevalence of ARCI in the United States has been reported to be around 1 per 300,000.
• Epidemiological data from Germany indicate that ARCI affects approximately 1.7 individuals per 100,000 in the population. This low prevalence underscores its classification as a rare genetic disorder and highlights the importance of specialized diagnostic and therapeutic strategies.
• The rising number of ARCI cases can be attributed to several factors. Improved genetic testing and diagnostic techniques have led to better identification and classification of the disorder. Additionally, increased awareness, higher rates of consanguineous marriages in certain populations, and better survival of affected infants due to advances in neonatal care contribute to the apparent increase in prevalence.
• There is a significant unmet need for approved therapies in ARCI management, as no specific drugs are currently available. Patients rely solely on off-label treatments, which offer limited efficacy and symptom relief. Development of targeted therapies is crucial to address the underlying genetic causes and improve long-term outcomes.
• Several companies are advancing therapies for ARCI, including Krystal Biotech with KB105, among others. These innovative treatments target unmet clinical needs and offer promising efficacy. Regulatory approval of such therapies could significantly expand the ARCI treatment landscape, drive market growth, and generate substantial revenue through improved patient outcomes and broader adoption.

DelveInsight's comprehensive report titled "Autosomal Recessive Congenital Ichthyoses (ARCI) - Market Insights, Epidemiology, and Market Forecast - 2034" offers a detailed analysis of ARCI. The report presents historical and projected epidemiological data covering diagnosed prevalent cases of ARCI, age-specific diagnosed prevalent cases of ARCI and mutation-specific diagnosed prevalent cases of ARCI. 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 7MM: 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 ARCI. 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.

Autosomal Recessive Congenital Ichthyoses (ARCI) Overview

ARCI are a group of chronic, inherited skin disorders characterized by widespread scaling and varying levels of redness (erythema), typically presenting at birth or in early infancy. These conditions encompass multiple non syndromic ichthyosis subtypes, each with distinct clinical features and severity. Harlequin ichthyosis represents the most severe and potentially life-threatening form, while lamellar ichthyosis and congenital ichthyosiform erythroderma (CIE) are less severe yet still impactful. Additionally, intermediate phenotypes exist, presenting with variable scale size, texture, and degrees of erythema. ARCI is caused by mutations in various genes involved in skin barrier formation, including TGM1, ABCA12, ALOX12B, ALOXE3, NIPAL4, CYP4F22, PNPLA1, CERS3, LIPN, and SULT2B1. Among these, TGM1 mutations are the most common, disrupting normal skin development and leading to characteristic scaling. Though these subtypes form a continuous spectrum, describing them individually is crucial for guiding clinical decisions, predicting disease outcomes, and tailoring long-term care strategies. Understanding these phenotypic variations aids healthcare professionals in diagnosing, monitoring, and managing ARCI effectively, while also helping families set realistic expectations. As research advances, these descriptions continue to evolve, fostering more personalized treatment approaches and better quality of life for affected individuals.

Autosomal Recessive Congenital Ichthyoses (ARCI) Diagnosis and Treatment Overview

Diagnosing ARCI involves a thorough clinical evaluation, including history of neonatal features such as a collodion membrane, ectropion/eclabium, and signs of systemic complications. Physical examination focuses on scale characteristics, erythema, xerosis, alopecia, nail dystrophy, and joint deformities. Eye and growth assessments are also vital. A three-generation family history is reviewed, though absence of affected relatives does not rule out ARCI. Genetic diagnosis may involve gene-targeted panels or comprehensive genomic sequencing to identify causative mutations.

Treatment of ARCI is primarily symptomatic and supportive, aimed at improving quality of life and preventing complications. Management involves a multidisciplinary approach that addresses dermatologic, nutritional, pulmonary, ophthalmologic, and infectious concerns. Key strategies include intensive skin hydration using emollients and keratolytics, systemic retinoids for severe cases, temperature regulation, high-calorie nutrition, and infection prevention. In neonates, Neonatal intensive care unit (NICU) care with humidity control and infection monitoring is critical. Additional support includes physical therapy, ophthalmic lubrication, and regular ENT evaluations. Family support through advocacy groups and disability resources is also essential for holistic care and long-term well-being.

Autosomal Recessive Congenital Ichthyoses (ARCI) Epidemiology

The epidemiology section of the ARCI market report offers information on the patient populations, including historical and projected trends for each of the 7MM. Examining Key Opinion Leader (KOL) 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 ARCI. 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

• Based on a secondary analysis, data from an epidemiologic study conducted in France estimate the prevalence of ARCI at approximately 7 cases per 1,000,000 individuals.
• In Spain, ARCI are estimated to affect approximately 1 in every 138,000 individuals in the general population. Among children younger than 10 years, the prevalence is notably higher around 1 in 61,700 reflecting the early onset and clinical prominence of the condition in pediatric cases.
• According to the secondary analysis, TGM1 mutations are the most common cause of ARCI found in 55% of cases in the US.

Autosomal Recessive Congenital Ichthyoses (ARCI) Market Outlook

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

The treatment landscape for ARCI primarily focuses on symptomatic management, as no curative therapies currently exist. Standard care includes daily use of emollients, keratolytics, and topical retinoids to reduce scaling and improve skin hydration. Systemic retinoids may be prescribed in severe cases. Supportive measures such as infection control, temperature regulation, and management of ocular or joint complications are essential.

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 ARCI market in the 7MM is expected to change significantly during the forecast period (2025-2034).

Autosomal Recessive Congenital Ichthyoses (ARCI) Drug Chapters

Emerging Drugs

KB105: Krystal Biotech

KB105 is a redosable, off-the-shelf gene therapy engineered to topically deliver two copies of the TGM1 gene directly onto exfoliated skin. Its primary goal is to locally supplement TGM1 protein at the application site, aiming to correct genetic deficiencies and improve the visible symptoms of the condition, thereby promoting targeted phenotypic improvement. KB105 has received Orphan Drug Designation (ODD) from both the US Food and Drug Administration (FDA) and European Medicines Agency (EMA). In addition, it has been granted Fast Track Designation (FTD) and Rare Pediatric Disease Designation (RPDD) by the US FDA.

• According to July 2025 report, Krystal Biotech expect to initiate Phase II cohort for the treatment of Lamellar Ichthyosis, a form of ARCI in 2026.
• KB105 is currently under patent protection, with its patent set to expire in the year 2039. This safeguards its proprietary formulation and therapeutic approach, allowing exclusive commercial rights during this period.

Autosomal Recessive Congenital Ichthyoses (ARCI) Market Segmentation

DelveInsight's 'Autosomal Recessive Congenital Ichthyoses (ARCI) - Market Insights, Epidemiology, and Market Forecast - 2034' report provides a detailed outlook of the current and future ARCI 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.

Autosomal Recessive Congenital Ichthyoses (ARCI) Market Size by Countries

The ARCI market size is assessed separately for various countries, including the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan. In 2024, the United States held a significant share of the overall 7MM ARCI 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.

Autosomal Recessive Congenital Ichthyoses (ARCI) Market Size by Therapies

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

Autosomal Recessive Congenital Ichthyoses (ARCI) Drugs Uptake

This section focuses on the sales uptake of potential ARCI drugs that have recently been launched or are anticipated to be launched in the ARCI market between 2020 and 2034. It estimates the market penetration of ARCI 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 ARCI market.

The emerging ARCI 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 ARCI market.

Autosomal Recessive Congenital Ichthyoses (ARCI) Market Access and Reimbursement

DelveInsight's 'Autosomal Recessive Congenital Ichthyoses (ARCI) - Market Insights, Epidemiology, and Market Forecast - 2034' report provides a descriptive overview of the market access and reimbursement scenario of ARCI. 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.

Key Opinion Leader (KOL) Views

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

Autosomal Recessive Congenital Ichthyoses (ARCI): KOL Insights

DelveInsight's analysts connected with 20+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as, Northwestern University, Feinberg School of Medicine, US, University of Muenster, Germany; Larrey Hospital, CHU Toulouse, Toulouse, France; Bambino Gesu ChilARCIn's Hospital, IRCCS, Rome, Italy; Hospital Universitario La Paz, Madrid, Spain; University of Sheffield, UK; Hyogo College of Medicine, Japan, among others.

"As per KOL from the US, "Topical administration of KB105 affords a simple painless way to treat the causative defect in patients suffering from TGM1-deficient ARCI, a debilitating skin disease in which patients have disfiguring generalized scaling and poor skin barrier function, putting them at increased risk for superficial infections caused by bacteria and fungal."

"As per KOL from the UK, "ARCI epidemiology has a lack of comprehensive, population-based data across diverse ethnic groups. Limited registries and underreporting hinder accurate prevalence estimates, impeding resource allocation and research prioritization. Improved global surveillance and standardized diagnostic criteria are essential for understanding disease burden and guiding public health strategies."

"As per KOL from Japan, "The differential diagnosis of ARCI includes other inherited and acquired skin disorders with overlapping features. Key conditions to consider are ichthyosis vulgaris, X-linked ichthyosis, netherton syndrome, trichothiodystrophy, sjogren-larsson syndrome, and self-healing collodion baby. Syndromic forms and metabolic disorders like gaucher syndrome or dorfman-chanarin syndrome may also mimic ARCI."

Competitive Intelligence Analysis

We conduct a competitive and market intelligence analysis of the ARCI. 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.

Autosomal Recessive Congenital Ichthyoses (ARCI) Pipeline Development Activities

The report offers an analysis of therapeutic candidates in early and late stages and examines companies involved in developing targeted therapeutics for ARCI. 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 ARCI therapies.

Autosomal Recessive Congenital Ichthyoses (ARCI) Report Insights

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

Autosomal Recessive Congenital Ichthyoses (ARCI) Report Key Strengths

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

Autosomal Recessive Congenital Ichthyoses (ARCI) Report Assessment

• ARCI Current Treatment Practices
• Unmet Needs
• ARCI Product Profiles
• ARCI Market Attractiveness

Key Questions:

• How common is ARCI?
• What are the key findings of ARCI 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 ARCI?
• What are the disease risk, burden, and unmet needs of ARCI?
• At what Compounded Annual Growth Rate (CAGR) is the ARCI market and its epidemiology is expected to grow in the 7MM during the forecast period (2025-2034)?
• How would the unmet needs impact the ARCI market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of ARCI in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, 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 ARCI?

Reasons to buy:

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the ARCI 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 UK, 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 market access and reimbursement policies of approved therapies, barriers to accessibility of off-label expensive therapies, and patient assistance programs.
• To understand the perspective of KOL 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 ARCI?

The primary treatment goals for ARCI are to reduce scaling, improve skin hydration, and alleviate discomfort. Management aims to prevent secondary infections, maintain skin barrier function, and enhance quality of life. Long-term care also focuses on minimizing complications such as heat intolerance, joint contractures, and ocular issues. Emerging therapies seek to address underlying genetic defects for more targeted and sustained clinical improvement.

2. What are the challenges in managing ARCI?

Managing ARCI poses challenges due to its genetic heterogeneity, chronic nature, and lack of curative treatments. Patients often face persistent scaling, dryness, and risk of infections. Treatment adherence can be difficult, especially with labor-intensive skincare routines. Psychosocial impacts, including stigma and emotional distress, further complicate care. Limited access to specialized therapies and variability in disease severity also hinder consistent management and long-term outcome.

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

Key factors driving the growth of the ARCI market include rising awareness of rare skin disorders, advancements in genetic research, and increased demand for targeted therapies. Improved diagnostic tools and growing investment in dermatological innovations also contribute. Support from patient advocacy groups and regulatory incentives for orphan drugs further stimulate development. Additionally, expanding healthcare infrastructure and access to specialized treatments in emerging markets boost market potential.

4. How will the ARCI Market and Epidemiology Forecast Report benefit the clients?

The ARCI Market and Epidemiology Forecast Report offers clients strategic insights into disease prevalence, patient segmentation, and market dynamics. It helps identify commercial opportunities, assess treatment gaps, and support planning for product development, market entry, or expansion. The report also aids stakeholders in understanding regulatory landscapes, forecasting trends, and making data-driven investment or policy decisions.

Table of Contents

1. Key Insights

2. Report Introduction

3. ARCI Market Overview at a Glance

• 3.1. Market Share (%) Distribution of ARCI by Therapies in the 7MM in 2024
• 3.2. Market Share (%) Distribution of ARCI by Therapies in the 7MM 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:7MM
• 8.3. Diagnosed Prevalent Cases of ARCI in the 7MM
• 8.4. The United States
  • 8.4.1. Diagnosed Prevalent Cases of ARCI
  • 8.4.2. Age-specific Diagnosed Prevalent Cases of ARCI
  • 8.4.3. Mutation-specific Diagnosed Prevalent Cases of ARCI
• 8.5. EU4 and the UK
  • 8.5.1. Diagnosed Prevalent Cases of ARCI
  • 8.5.2. Age-specific Diagnosed Prevalent Cases of ARCI
  • 8.5.3. Mutation-specific Diagnosed Prevalent Cases of ARCI
• 8.6. Japan
  • 8.6.1. Diagnosed Prevalent Cases of ARCI
  • 8.6.2. Age-specific Diagnosed Prevalent Cases of ARCI
  • 8.6.3. Mutation-specific Diagnosed Prevalent Cases of ARCI

9. Patient Journey

10. Emerging Therapies

• 10.1. Key Cross Competition
• 10.2. KB105: Krystal Biotech
  • 10.2.1. Drug Description
  • 10.2.2. Other Development Activities
  • 10.2.3. Clinical Trials Information
  • 10.2.4. Safety and Efficacy
  • 10.2.5. Analyst's View

11. ARCI: Major Market Analysis

• 11.1. Key Findings
• 11.2. Market Outlook
• 11.3. Attribute Analysis
• 11.4. Key Market Forecast Assumptions
  • 11.4.1. Cost Assumptions and Rebates
  • 11.4.2. Pricing Trends
  • 11.4.3. Analogue Assessment
  • 11.4.4. Launch Year and Therapy Uptake
• 11.5. Total Market Size of ARCI in the 7MM
• 11.6. Market Size of ARCI by Therapies in the 7MM
• 11.7. The United States Market Size
  • 11.7.1. Total Market Size of ARCI
  • 11.7.2. Market Size of ARCI by Therapies
• 11.8. EU4 and the UK Market Size
  • 11.8.1. Total Market Size of ARCI
  • 11.8.2. Market Size of ARCI by Therapies
• 11.9. Japan Market Size
  • 11.9.1. Total Market Size of ARCI
  • 11.9.2. Market Size of ARCI by Therapies

12. Key Opinion Leaders' Views

13. Unmet Needs

14. SWOT Analysis

15. Market Access and Reimbursement

16. Appendix

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

17. DelveInsight Capabilities

18. Disclaimer

19. About DelveInsight