シスチン症 - 市場考察、疫学、市場予測：2030年

主要7ヶ国におけるシスチン症の総有病者数は、2020年に3,008件となり、予測期間中 (2018年～2030年) にCAGRで0.92％の増加が予測されています。

当レポートでは、シスチン症について調査分析し、過去・将来の疫学、米国・欧州5ヶ国 (ドイツ、フランス、イタリア、スペイン、英国) ・日本の市場動向に焦点を当てて、現在の治療法、新薬、市場規模などについて、体系的な情報を提供しています。

目次

第1章 主要考察

第2章 レポートのイントロダクション

第3章 シスチン症市場の概要

• 2018年のシスチン症の市場シェア：治療薬別
• 2030年のシスチン症の市場シェア：治療薬別

第4章 シスチン症のエグゼクティブサマリー

第5章 主要イベント

第6章 疾患の背景と概要

• イントロダクション
• シスチン症の分類
• シスチン症の原因
• シスチン症の病態生理
• 臨床的説明と合併症
• シスチン症の遺伝的根拠
• 診断とバイオマーカーのフォローアップ

第7章 シスチン症の治療と管理

• 対症療法
• シスチン枯渇療法
• 治療モニタリングと予後
• シスチン症の治療ガイドライン

第8章 疫学と患者集団

• 主な調査結果
• 調査手法
• 主要7ヶ国におけるシスチン症の総有病者数
• 主要7ヶ国におけるシスチン症と診断された有病者数
• 米国
• 欧州5ヶ国
• 日本

第9章 ペイシェントジャーニー

第10章 上市薬

• Procysbi (cysteamine bitartrate)：Horizon Pharma/Chiesi Farmaceutici
• Cystadrops (cysteamine hydrochloride)：Recordati S.p.A.
• Cystaran (cysteamine hydrochloride)：Leadiant Biosciences
• Cystagon (cysteamine bitartrate)：Mylan Pharmaceuticals

第11章 新薬

• AVR-RD-04 (CTNS-RD-04)：Avrobio
• ELX-02：Eloxx Pharmaceuticals
• A0003：Mylan

第12章 シスチン症：主要7市場分析

• 主な調査結果
• 市場手法
• 市場の見通し
• 属性分析
• 現在の治療薬・新薬の可能性
• 主要な市場予測の前提条件
• 主要7ヶ国におけるシスチン症の市場規模
• 主要7ヶ国におけるシスチン症の市場規模：治療薬別
• 米国におけるシスチン症の市場規模
• 欧州5ヶ国におけるシスチン症の市場規模
• 日本におけるシスチン症の市場規模

第13章 KOLの見解

第14章 市場促進要因

第15章 市場障壁

第16章 SWOT分析

第17章 アンメットニーズ

第18章 市場へのアクセスと償還

第19章 付録

第20章 DelveInsightのサービス内容

第21章 免責事項

第22章 DelveInsightについて

List of Tables

• Table 1: Summary of Cystinosis Market and Epidemiology (2018-2030)
• Table 2: Key Events
• Table 3: CTNS mutations and their corresponding phenotype, cystine transport activity, and location
• Table 4: Total Prevalent Cases of Cystinosis in the 7MM (2018-2030)
• Table 5: Diagnosed Prevalent Cases of Cystinosis in the 7MM (2018-2030)
• Table 6: Total Prevalent cases of Cystinosis in the United States (2018-2030)
• Table 7: Diagnosed Prevalent cases of Cystinosis in the United States (2018-2030)
• Table 8: Type-specific Diagnosed Prevalent Cases of Cystinosis in the United States (2018-2030)
• Table 9: Total Prevalent Cases of Cystinosis in EU-5 (2018-2030)
• Table 10: Diagnosed Prevalent Cases of Cystinosis in EU-5 (2018-2030)
• Table 11: Type-specific Diagnosed Prevalent Cases of Cystinosis in EU5 (2018-2030)
• Table 12: Total Prevalent cases of Cystinosis in Japan (2018-2030)
• Table 13: Diagnosed Prevalent cases of Cystinosis in Japan (2018-2030)
• Table 14: Type-specific Diagnosed Prevalent Cases of cystinosis in Japan (2018-2030)
• Table 15: Comparison of approved drugs
• Table 16: Procysbi, Clinical Trial Description, 2021
• Table 17: Cystadrops, Clinical Trial Description, 2021
• Table 18: Comparison of emerging drugs under development
• Table 19: AVR-RD-04, Clinical Trial Description, 2021
• Table 20: ELX-02, Clinical Trial Description, 2021
• Table 21: Key Market Forecast Assumptions for AVR-RD-04
• Table 22: Key Market Forecast Assumptions for ELX-02
• Table 23: Seven Major Market Size of Cystinosis in USD Million (2018-2030)
• Table 24: Seven Major Market Size of Cystinosis by Therapies in USD Million (2018-2030)
• Table 25: United States Market Size of Cystinosis in USD Million (2018-2030)
• Table 26: Market Size of Cystinosis by Therapies, in the US, in USD Million (2018-2030)
• Table 27: EU-5 Market Size of Cystinosis in USD Million (2018-2030)
• Table 28: Market Size of Cystinosis by therapies in EU5, in USD Million (2018-2030)
• Table 29: Market Size of Cystinosis in Japan, in USD Million (2018-2030)
• Table 30: Market Size of Cystinosis by therapies in Japan, in USD Million (2018-2030)

List of Figures

• Figure 1: Structure of Human Immunodeficiency Virus (HIV)
• Figure 2: Classification of Cystinosis
• Figure 3: Symptoms of different types of Cystinosis
• Figure 4: Schematic representation of the CTNS gene and all reported mutations in cystinosis
• Figure 5: Simplified scheme of the current knowledge on the pathogenesis of cystinosis
• Figure 6: Pathophysiology of cystinosis
• Figure 7: Structure of cystinosin with the indication of CTNS mutations affecting LAMP2A localization, interaction with V-ATPase-Regulator-Rag complex, and glycosylation status
• Figure 8: Total Prevalent Cases of Cystinosis in the 7MM (2018-2030)
• Figure 9: Diagnosed Prevalent Cases of Cystinosis in the 7MM (2018-2030)
• Figure 10: Total Prevalent cases of Cystinosis in the United States (2018-2030)
• Figure 11: Diagnosed Prevalent cases of Cystinosis in the United States (2018-2030)
• Figure 12: Type-specific Diagnosed Prevalent Cases of Cystinosis in the United States (2018-2030)
• Figure 13: Total Prevalent Cases of Cystinosis in EU-5 (2018-2030)
• Figure 14: Diagnosed Prevalent Cases of Cystinosis in EU-5 (2018-2030)
• Figure 15: Type-specific Diagnosed Prevalent cases of Cystinosis in EU-5
• Figure 16: Total Prevalent cases of Cystinosis in Japan (2018-2030)
• Figure 17: Diagnosed Prevalent cases of Cystinosis in Japan (2018-2030)
• Figure 18: Type-specific Diagnosed Prevalent Cases of cystinosis in Japan (2018-2030)
• Figure 19: Market Size of Cystinosis in the 7MM, USD Millions (2018-2030)
• Figure 20: Market Size of Cystinosis by Therapies in the 7MM, USD Millions (2018-2030)
• Figure 21: Market Size of Cystinosis in the United States, USD Millions (2018-2030)
• Figure 22: Market size of cystinosis by therapies in the United States, in USD Million (2018-2030)
• Figure 23: Market Size of Cystinosis in EU5, USD Millions (2018-2030)
• Figure 24: Market Size of Cystinosis by therapies, in EU5, in USD Million (2018-2030)
• Figure 25: Market Size of Cystinosis in Japan, USD Millions (2018-2030)
• Figure 26: Market Size of Cystinosis by therapies in Japan, in USD Million (2018-2030)
• Figure 27: Market Drivers
• Figure 28: Market Barriers
• Figure 29: Unmet Needs

DelveInsight's 'Cystinosis -Market Insights, Epidemiology, and Market Forecast-2030' report deliver an in-depth understanding of the Cystinosis, historical and forecasted epidemiology as well as the Cystinosis market trends in the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom) and Japan.

The Cystinosis market report provides current treatment practices, emerging drugs, and market share of the individual therapies, current and forecasted 7MM Cystinosis market size from 2018 to 2030. The Report also covers current Cystinosis treatment practice, market drivers, market barriers, SWOT analysis, reimbursement, and market access, and unmet medical needs to curate the best of the opportunities and assesses the underlying potential of the market.

Geography Covered:

• The United States
• EU5 (Germany, France, Italy, Spain, and the United Kingdom)
• Japan

Study Period: 2018-2030.

Cystinosis Disease Understanding and Treatment Algorithm

Cystinosis Overview

The Cystinosis Research Network defines Cystinosis as a rare genetic, metabolic, lysosomal storage disease caused by mutations in the CTNS gene on chromosome 17p13. The condition results in an abnormal accumulation of the amino acid cystine in various organs and tissues of the body, such as the kidneys, eyes, muscles, pancreas, and brain.

Cystinosis is not something that a person can catch from another individual. It is a genetic condition, which means a child is born with it. A child can get cystinosis if both parents are carriers of the disease. A child suffers from cystinosis when the specific gene that does not work right is passed down from both parents. A parent of a child with cystinosis carries one copy of the abnormal CTNS gene. The parents are carriers and have no signs of the disease. The genetic mutation causes a defect in the transport of cystine out of the cells. The cystine crystallizes in the cell and destroys cells. Each time two such cystinosis carriers have a child together, there is a one-in-four chance (25% risk) of having a child with cystinosis and every healthy sibling of a child with cystinosis has a two-in-three chance (66% risk) of being a carrier, like his parents.

There are three types of cystinosis, depending on when symptoms first appear (known as onset): Infantile (early-onset) cystinosis; later childhood or adolescent (late-onset) cystinosis; and adult cystinosis. About 95% of patients with cystinosis have the infantile/early-onset form, making it the most common variant of this disease, and most patients develop kidney problems. In many cases, the categorization is also done as, nephropathic cystinosis, intermediate cystinosis, and non-nephropathic (or ocular) cystinosis

Continued in the report…..

Cystinosis Diagnosis

A diagnosis of cystinosis is based upon the identification of characteristic symptoms (e.g., symptoms of renal Fanconi syndrome), a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

Due to the availability of specific cysteamine therapy, early diagnosis and management of cystinosis have a great impact on the clinical outcome of patients. There are three main diagnostic modalities for cystinosis. The current gold standard is the detection of elevated cystine levels in white blood cells (WBCs), being extremely sensitive and precise for the disease. Molecular testing of the relatively small CTNS gene (12 exons but only 10 are codings) is also a well-established technique revealing 95% of disease-causing mutations. The third clinically used confirmatory option is the detection of the characteristic corneal cystine crystals by slit-lamp examination.

Being a monogenic disease, molecular diagnosis is efficient as a confirmatory tool; however, it is usually more time-consuming than cystine measurement. In about five percent of patients, pathogenic mutations are not easily discovered by the usual CTNS gene sequencing, being either deeply intronic, in the promoter region, or not commonly encountered large deletion or duplication.

Continued in the report…..

Cystinosis Treatment

The treatment of cystinosis is directed toward the specific symptoms that are present in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, kidney specialists (nephrologists), eye specialists (ophthalmologists), digestive disorder specialists (gastroenterologists), psychologists, and other healthcare professionals may need to systematically and comprehensively plan an affected child's treatment. Nephropathic and intermediate cystinosis were once progressively fatal disorders, with a lifespan for the infantile form of fewer than 10 years. However, the development of cystine-depleting therapies along with improvements in kidney transplantation has extended the lifespan well into adulthood (NORD, n.d.).

Optimal symptomatic treatment of the renal Fanconi syndrome and extra-renal complications, combined with cysteamine, the specific cystine-depleting therapy represents the mainstay of cystinosis treatment. Early diagnosis is of vital importance to ensure better control of cystinosis as the early start of specific treatment ensures better growth and delays the onset of ESRD and most of the extrarenal complications.

Continued in the report…..

Cystinosis Epidemiology

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by Total Prevalent Cases of Cystinosis, Diagnosed Prevalent Cases of Cystinosis, Type-specific Diagnosed Prevalent Cases of Cystinosis scenario in the 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom) and Japan from 2018 to 2030.

Key Findings

• Total prevalent cases of cystinosis in the 7MM were found to be 3,008 in 2020, which might increase in 2030. These prevalent cases are expected to increase with a CAGR of 0.92% during the study period (2018-2030).

• The total diagnosed prevalent cases of cystinosis in 7MM were found to be 1,334 in 2020, which are expected to increase during the study period (2018-2030).

• Among 7MM, the United States has the highest diagnosed prevalent cases of cystinosis with 655 cases in 2020. In EU-5, the UK has the highest number of cases, i.e., 222, followed by Germany with 183 cases. While Italy has the least number of cases with 43 in 2020.

• In 2020, there was a total of 599 cases of Infantile nephropathic cystinosis, 33 cases of Juvenile nephropathic cystinosis, and 23 cases of Adult-onset (Ocular, or non-nephropathic cystinosis) in the US. These cases are expected to increase by 2030.

• Japan had 23 diagnosed prevalent cases of cystinosis in 2020. These cases are expected to decrease in the forecast period. Out of the total diagnosed cases, 21 cases accounted for infantile nephropathic cystinosis, 1 case of Juvenile nephropathic cystinosis, and 1 case of Adult-onset in 2020.

Cystinosis Epidemiology

The epidemiology segment also provides the Cystinosis epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

Cystinosis Drug Chapters

Cystinosis Emerging Drugs

AVR-RD-04 (CTNS-RD-04): Avrobio

AVR-RD-04 is a lentiviral-based gene therapy being developed by Avrobio, in collaboration with the University of California, San Diego (UCSD), for the treatment of cystinosis. This gene therapy contains a human gene for cystinosin designed to maximize the likelihood of sustained cystinosin production in hematopoietic stem cells and their progeny. It is manufactured from hematopoietic stem cells that are first extracted from the patient, modified to add the gene that encodes for cystinosin, and then infused into the patient.

Avrobio announced initial clinical data from the first three patients dosed in the investigator-sponsored Phase I/II trial of AVR-RD-04, the company's investigational gene therapy for cystinosis.

ELX-02: Eloxx Pharmaceuticals

ELX-02 (formerly known as NB124) is a small molecule administered by the parenteral subcutaneous (SC) route. It is a novel eukaryotic ribosomal selective glycoside (ERSG), which has increased selectivity for the eukaryotic cytoplasmic ribosome. Due to its selective binding to the cytoplasmic ribosome and reducing ribosomal stalling, ERSGs are expected to demonstrate increases in mRNA and full-length protein production with a reduction in triggered nonsense-mediated decay.

The molecule is under investigation for the treatment of cystinosis, cystic fibrosis, mucopolysaccharidosis type 1, Duchenne muscular dystrophy, and Rett syndrome. It is under Phase II clinical trial to treat patients with nephropathic cystinosis bearing one or more CTNS Gene (cystinosin) nonsense mutations.

Products detail in the report…

List to be continued in the report…

Cystinosis Market Outlook

Cystinosis is a rare autosomal recessive metabolic disorder in which cystinosin gene (CTNS) mutations result in defective cystine transport across the lysosomal membrane and accumulation and crystallization (disulfide-linked dimers of the amino acid cysteine) in all tissues with progressive and widespread functional impairment of kidneys, thyroid, testis, pancreas, muscle, brain, and eye. In the eye, cystine crystal formation and accumulation in the cornea leads to photophobia, blepharospasm, corneal erosions, superficial punctate keratopathy, and band keratopathy. Without treatment, this can result in a complete loss of vision requiring keratoplasty.

The mainstay of cystinosis treatment is the cystine-depleting aminothiol cysteamine or mercaptoethylamine. Cysteamine reacts with lysosomal cysteine to form cysteamine-cysteine mixed disulfide, which exits the lysosome via the lysine cationic transport system and consequently lowers the intracellular cysteine concentrations. Thus, cysteamine can deplete cells of more than 90% of their cysteine content. Early initiation and strict adherence to, cysteamine treatment has a considerable impact on long-term prognosis, as it has been shown to retard or prevent renal deterioration, improve growth, delay non-renal complications, and improve patient life expectancy. Cysteamine treatment is available as an oral, ophthalmic solution, and lubricant gel formulations. Although cysteamine does not cure the disease, it dramatically improves the overall prognosis.

Continued in the report…..

Key Findings

• The market size of Cystinosis in the 7MM is expected to rise from USD 167 million in 2020 for the study period (2018-2030).

• The United States accounts for the highest market size of Cystinosis, in comparison to the other major markets i.e., EU5 countries (the United Kingdom, Germany, Italy, France, and Spain), and Japan.

• Among the EU5 countries, the UK had the highest market size with USD 10 million in 2020, while Italy had the lowest market size of Cystinosis with USD 2 million in 2020.

• With the expected launch of upcoming therapies, ELX-02 (Eloxx Pharmaceuticals) in 2024 and AVR-RD-04 (Avrobio) in 2026, the market will experience significant growth. Cystadrops is already approved in Europe in 2018.

• From 2030, the current market value of approved therapies (Procysbi (cysteamine bitartrate) suspended release, Cystagon (cysteamine bitartrate) immediate-release), and Cystaran (cysteamine hydrochloride) will start declining due to the expected launch of a small molecule and Gene therapy.

The United States Market Outlook

This section provides the total Cystinosis market size and; market size by therapies in the United States.

EU-5 Market Outlook

The total Cystinosis market size and market size by therapies in Germany, France, Italy, Spain, and the United Kingdom are provided in this section.

Japan Market Outlook

The total Cystinosis market size and market size by therapies in Japan are provided.

Cystinosis Drugs Uptake

This section focuses on the rate of uptake of the potential drugs recently launched in the Cystinosis market or expected to get launched in the market during the study period 2018-2030. The analysis covers the Cystinosis market uptake by drugs; patient uptake by therapies; and sales of each drug.

This helps in understanding the drugs with the most rapid uptake, reasons behind the maximal use of new drugs, and allows the comparison of the drugs based on market share and size which again will be useful in investigating factors important in market uptake and in making financial and regulatory decisions.

Cystinosis Development Activities

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

Pipeline Development Activities

The report covers the detailed information of collaborations, acquisition, and merger, licensing, and patent details for Cystinosis emerging therapies.

Reimbursement Scenario in Cystinosis

Approaching reimbursement proactively can have a positive impact both during the late stages of product development and well after product launch. In the report, we consider reimbursement to identify economically attractive indications and market opportunities. When working with finite resources, the ability to select the markets with the fewest reimbursement barriers can be a critical business and price strategy.

Competitive Intelligence Analysis

We perform competitive and market Intelligence analysis of the Cystinosis market by using various competitive intelligence tools that include-SWOT analysis, PESTLE analysis, Porter's five forces, BCG Matrix, Market entry strategies, etc. The inclusion of the analysis entirely depends upon the data availability.

Scope of the Report:

• The report covers the descriptive overview of Cystinosis, explaining its causes, symptoms, pathophysiology, genetic basis, and currently available therapies.

• Comprehensive insight has been provided into the Cystinosis epidemiology and treatment.

• Additionally, an all-inclusive account of both the current and emerging therapies for Cystinosis is provided, along with the assessment of new therapies, which will have an impact on the current treatment landscape.

• A detailed review of the Cystinosis market; historical and forecasted is included in the report, covering the 7MM drug outreach.

• The report provides an edge while developing business strategies, by understanding trends shaping and driving the 7MM Cystinosis market.

Report Highlights:

• The robust pipeline with novel MOA and oral ROA, increasing incidence, effectiveness of drugs as both mono and combination therapy will positively drive the Cystinosis market.

• The companies and academics are working to assess challenges and seek opportunities that could influence Cystinosis R&D. The therapies under development are focused on novel approaches to treat/improve the disease condition.

• Major players are involved in developing therapies for Cystinosis. The launch of emerging therapies will significantly impact the Cystinosis market.

• Our in-depth analysis of the pipeline assets across different stages of development (phase III and phase II), different emerging trends, and comparative analysis of pipeline products with detailed clinical profiles, key cross-competition, launch date along with product development activities will support the clients in the decision-making process regarding their therapeutic portfolio by identifying the overall scenario of the research and development activities.

Cystinosis Report Insights

• Patient Population
• Therapeutic Approaches
• Cystinosis Pipeline Analysis
• Cystinosis Market Size and Trends
• Market Opportunities
• Impact of upcoming Therapies

Cystinosis Report Key Strengths

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

Cystinosis Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Market Drivers and Barriers
• SWOT analysis

Key Questions

Market Insights:

• What was the Cystinosis market share (%) distribution in 2018 and how it would look like in 2030?

• What would be the Cystinosis total market size as well as market size by therapies across the 7MM during the forecast period (2021-2030)?

• What are the key findings pertaining to the market across the 7MM and which country will have the largest Cystinosis market size during the forecast period (2021-2030)?

• At what CAGR, the Cystinosis market is expected to grow at the 7MM level during the forecast period (2021-2030)?

• What would be the Cystinosis market outlook across the 7MM during the forecast period (2021-2030)?

• What would be the Cystinosis market growth till 2030 and what will be the resultant market size in the year 2030?

• How would the market drivers, barriers, and future opportunities affect the market dynamics and subsequent analysis of the associated trends?

Epidemiology Insights:

• What are the disease risk, burdens, and unmet needs of Cystinosis?

• What is the historical Cystinosis patient pool in the United States, EU5 (Germany, France, Italy, Spain, and the UK), and Japan?

• What would be the forecasted patient pool of Cystinosis at the 7MM level?

• What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Cystinosis?

• Out of the above-mentioned countries, which country would have the highest incident population of Cystinosis during the forecast period (2021-2030)?

• At what CAGR the population is expected to grow across the 7MM during the forecast period (2021-2030)?

Current Treatment Scenario, Marketed Drugs, and Emerging Therapies:

• What are the current options for the treatment of Cystinosis along with the approved therapy?

• What are the current treatment guidelines for the treatment of Cystinosis in the US and Europe?

• What are the Cystinosis marketed drugs and their MOA, regulatory milestones, product development activities, advantages, disadvantages, safety, and efficacy, etc.?

• How many companies are developing therapies for the treatment of Cystinosis?

• How many emerging therapies are in the mid-stage and late stages of development for the treatment of Cystinosis?

• What are the key collaborations (Industry-Industry, Industry-Academia), Mergers and acquisitions, licensing activities related to the Cystinosis therapies?

• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitation of existing therapies?

• What are the clinical studies going on for Cystinosis and its status?

• What are the key designations that have been granted for the emerging therapies for Cystinosis?

• What are the 7MM historical and forecasted market of Cystinosis?

Reasons to buy:

• The report will help in developing business strategies by understanding trends shaping and driving Cystinosis.

• To understand the future market competition in the Cystinosis market and an Insightful review of the key market drivers and barriers.

• Organize sales and marketing efforts by identifying the best opportunities for Cystinosis in the US, Europe (Germany, Spain, Italy, France, and 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.

• Organize sales and marketing efforts by identifying the best opportunities for the Cystinosis market.

• To understand the future market competition in the Cystinosis market.

Table of Contents

1. Key Insights

2. Report Introduction

3. Cystinosis Market Overview at a Glance

• 3.1. Market Share (%) of Cystinosis by Therapies in 2018
• 3.2. Market Share (%) of Cystinosis by Therapies in 2030

4. Executive Summary of Cystinosis

5. Key Events

6. Disease Background and Overview

• 6.1. Introduction
• 6.2. Classification of Cystinosis
  • 6.2.1. Nephropathic cystinosis
    • 6.2.1.1. Symptoms and Associated Complications
  • 6.2.2. Intermediate cystinosis/Late-Onset/Juvenile cystinosis
    • 6.2.2.1. Symptoms
  • 6.2.3. Non-nephropathic or ocular cystinosis
• 6.3. Cause of Cystinosis
• 6.4. Pathophysiology of Cystinosis
  • 6.4.1. Cellular events in cystinosis related to cystine accumulation
  • 6.4.2. Cellular events in cystinosis likely unrelated to cystine accumulation
• 6.5. Clinical description and complications
• 6.6. Genetic Basis of Cystinosis
  • 6.6.1. Functional Characteristics of CTNS Mutations: Genotype-Phenotype Correlations
• 6.7. Diagnostics and Biomarker Follow-up
  • 6.7.1. Differential Diagnosis and Biomarker Follow-up
  • 6.7.2. Diagnostic Guidelines
    • 6.7.2.1. The European Reference Network for Rare Kidney Diseases

7. Treatment and Management of Cystinosis

• 7.1. Symptomatic treatment
• 7.2. Cystine-depleting therapy
• 7.3. Therapeutic monitoring and Prognosis
• 7.4. Treatment Guidelines for Cystinosis
  • 7.4.1. The European Reference Network for Rare Kidney Diseases

8. Epidemiology and Patient Population

• 8.1. Key Findings
• 8.2. Methodology
• 8.3. Total Prevalent Cases of Cystinosis in the 7MM
• 8.4. Diagnosed Prevalent Cases of Cystinosis in the 7MM
• 8.5. The United States
  • 8.5.1. Assumptions and Rationale
  • 8.5.2. Total Prevalent Cases of Cystinosis in the United States
  • 8.5.3. Diagnosed Prevalent Cases of Cystinosis in the United States
  • 8.5.4. Type-specific Diagnosed Prevalent Cases of Cystinosis in the United States
• 8.6. EU5
  • 8.6.1. Total Prevalent Cases of Cystinosis in EU-5
  • 8.6.2. Diagnosed Prevalent Cases of Cystinosis in EU-5
  • 8.6.3. Type-specific Diagnosed Prevalent Cases of Cystinosis in EU-5
• 8.7. Japan
  • 8.7.1. Assumptions and Rationale
  • 8.7.2. Total Prevalent Cases of Cystinosis in Japan
  • 8.7.3. Diagnosed Prevalent Cases of Cystinosis in Japan
  • 8.7.4. Type-specific Diagnosed Prevalent Cases of Cystinosis in Japan

9. Patient Journey

10. Marketed Therapies

• 10.1. Key Cross Competition
• 10.2. Procysbi (cysteamine bitartrate): Horizon Pharma/ Chiesi Farmaceutici
  • 10.2.1. Drug Description
  • 10.2.2. Regulatory Milestones
  • 10.2.3. Other Development Activities
  • 10.2.4. Advantages and Disadvantages
  • 10.2.5. Clinical Development
  • 10.2.6. Clinical Trials Information
  • 10.2.7. Safety and Efficacy
  • 10.2.8. Product Profile
• 10.3. Cystadrops (cysteamine hydrochloride): Recordati S.p.A.
  • 10.3.1. Drug Description
  • 10.3.2. Regulatory Milestones
  • 10.3.3. Other Development Activities
  • 10.3.4. Advantages and Disadvantages
  • 10.3.5. Clinical Development
  • 10.3.6. Clinical Trials Information
  • 10.3.7. Safety and Efficacy
  • 10.3.8. Product Profile
• 10.4. Cystaran (cysteamine hydrochloride): Leadiant Biosciences
  • 10.4.1. Drug Description
  • 10.4.2. Regulatory Milestones
  • 10.4.3. Other Development Activities
  • 10.4.4. Advantages and Disadvantages
  • 10.4.5. Safety and Efficacy
  • 10.4.6. Product Profile
• 10.5. Cystagon (cysteamine bitartrate): Mylan Pharmaceuticals
  • 10.5.1. Drug Description
  • 10.5.2. Regulatory Milestones
  • 10.5.3. Other Development Activities
  • 10.5.4. Advantages and Disadvantages
  • 10.5.5. Safety and Efficacy
  • 10.5.6. Product Profile

11. Emerging Therapies

• 11.1. Key Cross Competition
• 11.2. AVR-RD-04 (CTNS-RD-04): Avrobio
  • 11.2.1. Product Description
  • 11.2.2. Other Developmental Activities
  • 11.2.3. Clinical Development
  • 11.2.4. Clinical Trial Information
  • 11.2.5. Safety and Efficacy
  • 11.2.6. Product Profile
• 11.3. ELX-02: Eloxx Pharmaceuticals
  • 11.3.1. Product Description
  • 11.3.2. Other Developmental Activities
  • 11.3.3. Clinical Development
  • 11.3.4. Clinical Trial Information
  • 11.3.5. Safety and Efficacy
  • 11.3.6. Product Profile
• 11.4. A0003: Mylan
  • 11.4.1. Product Description
  • 11.4.2. Other Developmental Activities
  • 11.4.3. Clinical Development

12. Cystinosis: Seven Major Market Analysis

• 12.1. Key Findings
• 12.2. Market Methodology
• 12.3. Market Outlook
• 12.4. Attribute Analysis
• 12.5. Potential of Current Therapies and Emerging Therapies Cystinosis
• 12.6. Key Market Forecast Assumptions
• 12.7. Market size of Cystinosis in the 7MM
• 12.8. Market size of Cystinosis by Therapies in the 7MM
• 12.9. Market size of Cystinosis in the United States
  • 12.9.1. Total Market size of Cystinosis
  • 12.9.2. Market Size by Therapies in US
• 12.10. Market size of Cystinosis in EU-5
  • 12.10.1. Total Market size of Cystinosis in EU5
  • 12.10.2. Market Size by Therapies in EU-5
• 12.11. Market size of Cystinosis in Japan
  • 12.11.1. Total Market size of Cystinosis
  • 12.11.2. Market Size by Therapies in Japan

13. KOL Views

14. Market Drivers

15. Market Barriers

16. SWOT Analysis

17. Unmet Needs

18. Market Access and Reimbursement

• 18.1. United States
  • 18.1.1. Market Access
  • 18.1.2. Reimbursement
  • 18.1.3. Other Reimbursements
• 18.2. Europe
• 18.3. Japan

19. Appendix

• 19.1. Report Methodology
• 19.2. Bibliography

20. DelveInsight Capabilities

21. Disclaimer

22. About DelveInsight