The cystinosis market is expected to grow significantly in the coming years, driven by factors such as increasing awareness about the disease, improved diagnosis rates, and the development of novel treatment options.

Global Cystinosis Market was valued at US $169 Mn in 2022 and is expected to reach ~US $300.1 Mn by 2032, growing at a CAGR of 6.59% during the forecast period 2023-2032.

Cystinosis is a condition marked by the accumulation of the amino acid cystine within cells, leading to cell damage and the formation of crystals that can harm tissues and organs. The primary vulnerable areas are the eyes and kidneys, although the pancreas, muscles, testes, and thyroid can also be impacted. Cystinosis is classified into three distinct types: nephropathic (infantile), non-nephropathic or ocular, and intermediate cystinosis. Nephropathic cystinosis is the most severe and prevalent form, typically presenting with initial symptoms such as renal Fanconi syndrome and growth failure. Intermediate cystinosis exhibits similar symptoms but may not become prominent until individuals are between the ages of 8 and 20. Non-nephropathic cystinosis affects middle-aged adults, primarily causing eye disorders without kidney involvement. Photophobia, or sensitivity to light, develops due to cystine crystal accumulation in the eyes.

All three types of cystinosis result from mutations in the CTNS gene, which lead to a deficiency of the transporter protein known as cystinosin. Normally, cystinosin facilitates the removal of cystine from lysosomes, cellular compartments responsible for recycling and breaking down materials. When cystinosin is defective, cystine accumulates and forms crystals within the lysosomes, ultimately damaging cells in the eyes and kidneys. According to the National Institutes of Health (NIH), cystinosis affects approximately 1 in every 100,000 to 200,000 infants worldwide. It is the leading cause of renal Fanconi syndrome in children, accounting for nearly 5% of all childhood cases of kidney failure. Fanconi syndrome is a rare condition affecting kidney tubule function and results in excessive excretion of potassium, uric acid, glucose, phosphates, bicarbonate, and certain amino acids in the urine. Cysteine depletion therapy can significantly reduce cystine levels within cells, enhancing growth and minimizing kidney damage in children. Symptomatic therapy involves administering electrolytes and fluids to prevent severe dehydration and maintain proper electrolyte balance, utilizing sodium bicarbonate, potassium, sodium citrate, and magnesium. Acetylcholinesterase (ACE) inhibitors may also be employed at times to limit the progression of renal disease.

COVID-19 Impact on Cystinosis Market

In the initial stages of the pandemic, healthcare systems worldwide shifted their resources and focus towards managing COVID-19 cases. The emergence of the COVID-19 pandemic towards the end of 2019 posed unprecedented challenges for various industries globally, including the cystinosis treatment market on a global scale. As countries grappled with lockdowns, supply chain disruptions, and economic activity downturns, the healthcare sector, which represents a significant consumer of cystinosis treatment, experienced substantial repercussions.

The advent of the pandemic in early 2020 resulted in widespread lockdowns and restrictions that profoundly impacted various activities worldwide. Prominent pharmaceutical and biotechnology industries stopped and redirected their focus towards addressing the challenges posed by COVID-19, leading to a sharp decline in the demand for cystinosis treatment. Consequently, many pharmaceutical facilities suspended or scaled down their production operations in response to the reduced demand.

The COVID-19 pandemic severely disrupted global supply chains, affecting the transportation of essential raw materials to pharmaceutical manufacturing plants. Movement constraints and border closures contributed to production and supply delays. Furthermore, certain regions experienced shortages of raw materials due to disruptions in the supply chain network.

In the wake of the pandemic, numerous pharmaceutical manufacturing units encountered labour shortages as employees either fell ill or faced difficulties commuting to work due to lockdown measures. To mitigate the spread of the virus, pharmaceutical plants implemented stringent safety protocols, including limiting the number of on-site workers at any given time. These measures, while essential for safeguarding the health of the workforce, played a crucial role in sustaining vital operations during the pandemic.

Factors Driving the Cystinosis Market

Drivers

Favourable government grants

Government grants to support the diagnosis and treatment of cystinosis are driving the market's growth. Entities like the Cystinosis Research Network are crucial in raising awareness about the disease by observing Cystinosis Awareness Day on May 7. Additionally, the Food and Drug Administration's (FDA) approval of products is anticipated to fuel the expansion of the cystinosis treatment market in the foreseeable future.

In 2013, the FDA approved the delayed-release formulation of cysteamine bitartrate (DR-C) for patients aged 6 years and older. Subsequently, in 2015, the label was expanded to include children as young as two years. Cysteamine is a cystine-depleting agent that effectively reduces cystine levels within cells. It has demonstrated its efficacy in preventing or delaying renal failure and promoting the growth of children with cystinosis. Furthermore, in 2013, the FDA sanctioned Cystaran (cysteamine ophthalmic solution) to treat corneal cystine crystal accumulation. Treatment with Cystaran should commence promptly upon detecting cystine crystals within the corneas.

Nevertheless, the cystinosis treatment market may face challenges due to a lack of emphasis on research and development stemming from the disease's low prevalence rate and limited treatment options.

Restraints

Uncommon adverse reactions associated with higher doses of cysteamine have included bone pain, skin striae, myalgia, and elbow lesions that exhibit characteristics resembling bruises (as observed in skin biopsy findings, known as reactive angioendotheliomatosis). Cysteamine's impact on the survival of human dermal microvascular endothelial cells in laboratory experiments may provide insight into why it leads to angioendotheliomatosis.

Furthermore, treatment with cysteamine is linked to an unpleasant sulfurous body and breath odour. This odour results from converting cysteamine into volatile sulfuric compounds, such as methanethiol and dimethyl sulfide, and often reduces treatment adherence.

Additional adverse effects of cysteamine encompass hyperthermia, allergic skin rashes, lethargy, seizures, neutropenia, and gastrointestinal discomfort. It is important to note that these side effects are reversible, and most can be mitigated by initiating the medication at a low dose and gradually increasing it under the supervision of skilled healthcare professionals.

Opportunities

Increasing Research and Development Efforts by Scientists

Developed economies have been experiencing significant growth in improving their healthcare sectors. Rising income levels, urbanization, and infrastructure development drive this growth. Several countries have witnessed a substantial demand for cystinosis treatment, reflecting the expansion of their healthcare industries. The escalation of research and development activities will be pivotal in propelling market growth.

In July 2023, researchers from the University of Zurich (UZH) collaborated with Insilico Medicine, a company specializing in AI-driven drug discovery, to investigate the molecular mechanisms underlying kidney disease in cystinosis. They utilized model systems and Insilico's PandaOmics platform to uncover the disease pathways and identify potential therapeutic targets within cystinosis-affected cells. Their research revealed a connection between the disease and the regulation of a protein known as mTORC1.

According to their findings, cystine accumulation activates the mTORC1 protein, impairing kidney tubular differentiation and cellular function. Since individuals with cystinosis often require kidney transplants to restore renal function, there is a pressing need for more effective therapies. To address this need, the UZH research team initiated a search for existing medications that could be repurposed for the treatment of cystinosis, utilizing the PandaOmics platform.

Cystinosis Market Segmentation 

By Treatment Type

The segmentation analysis of the treatment type segment is as Cystine-Depleting Therapy and Symptomatic Therapy.  

A cystinosis diagnosis relies on identifying typical symptoms (such as those associated with renal Fanconi syndrome), a comprehensive patient medical history, a thorough clinical assessment, and various specialized tests.

Early diagnosis and management of cystinosis significantly impact patients' clinical outcomes, thanks to the availability of specific cysteamine therapy. There are three primary diagnostic approaches for cystinosis. Currently, the gold standard involves detecting elevated cystine levels in white blood cells (WBCs), which exhibits exceptional sensitivity and precision for diagnosing the disease. Another well-established technique is molecular testing of the relatively compact CTNS gene, which consists of 12 exons, but only 10 are coded. This method can uncover 95% of disease-causing mutations. The third confirmatory option employed in clinical practice is the identification of characteristic corneal cystine crystals through slit-lamp examination.

Molecular diagnosis, effective as a confirmatory tool for a monogenic disease like cystinosis, is typically more time-consuming than cystine measurement. Pathogenic mutations are not easily identified in approximately five per cent of patients through standard CTNS gene sequencing. These mutations may be deeply intronic, located in the promoter region, or involve less common large deletions or duplications.

Currently, cystinosis remains without a cure, and available treatments are limited to a handful of approved therapies that mainly offer relief from symptoms. There are currently three approved therapies in the United States: one for ocular cystinosis and the other for nephropathic cystinosis.

On the horizon, there is only one promising therapy in the Cystinosis development pipeline, AVR-RD04 (Gene therapy). This therapy aims to evaluate the long-term safety and effectiveness of AVR-RD-04 treatment in individuals who have received a single dose of lentiviral gene therapy. This upcoming gene therapy is anticipated to cater to the entire Cystinosis patient population and is projected to be available in the market by 2026, based on our estimations. The introduction of this therapy is poised to impact the market substantially, reducing the demand for existing drugs and generating significant revenue.

By Distribution Channel

Cystinosis, a rare genetic disorder causing an amino acid buildup leading to damage in various organs, has a specialized market catering to its treatments and management. Hospital pharmacies are within hospital premises and provide medications, treatments, and specialized care for inpatients and outpatients dealing with cystinosis. Hospital pharmacies dispense drugs prescribed by healthcare providers and are crucial in managing acute symptoms, providing specialized formulations, and offering support to patients during hospital stays. Retail pharmacies are traditional drugstores located in communities, neighborhoods, or standalone locations. They stock medications and related products for various health conditions, including cystinosis.

Retail pharmacies play a role in providing ongoing medications and prescription refills for patients managing the chronic aspects of cystinosis. With the rise of digital health services, online pharmacies have gained prominence. These platforms provide convenience by allowing patients to order medications, have them delivered to their doorstep, and often offer a wide range of medications for various conditions, including cystinosis. They are beneficial for those who prefer remote access and may not have easy physical access to specific medications. Others segment might include specialty clinics, compound pharmacies, or direct distribution channels from manufacturers that aren't as prevalent as the aforementioned pharmacy types. Specialty clinics may offer more personalized care and access to clinical trials or specialized treatments for cystinosis management.

By End User

End user segmentation based on service providers and care settings is crucial for delivering specialized care to patients dealing with this rare genetic disorder. Hospitals play a significant role in the treatment and management of cystinosis. They provide comprehensive medical care, including emergency services, diagnostics, inpatient treatment, and specialized care for patients experiencing severe symptoms or complications related to cystinosis. Hospitals often have multidisciplinary teams capable of managing different aspects of this condition, such as kidney impairment or ocular manifestations. Specialty clinics are specifically dedicated to managing rare or complex conditions such as cystinosis. They offer more specialized and focused care, often providing long-term treatment plans, monitoring, and support for patients.

Specialty clinics might house experts in nephrology, ophthalmology, and other relevant specialties, offering more tailored and comprehensive care for cystinosis patients. Others segment might encompass various providers or services not categorized under hospitals or specialty clinics. It could include home healthcare services, research institutions conducting clinical trials or studies related to cystinosis, or non-profit organizations that provide support, resources, and advocacy for patients and their families.

By Regions

By region, the cystinosis market is divided into North America, Europe, APAC, and Others. Others are further divided into the Middle East and South America.

The increasing demand for cystinosis treatment in the healthcare sector is presenting opportunities for manufacturers in North America to expand their operations. North America boasts numerous producers and suppliers, and the region's rapid economic growth has led to an expansion in industrial production, consequently driving the demand for cystinosis treatment.

Factors such as escalating healthcare expenditure, a surge in research studies, advancements in technologies for treating metabolic diseases, and the establishment of pharmaceutical and biotechnology businesses across the region all contribute to the growth of the cystinosis treatment market share in North America.

Collaborative research initiatives between key healthcare organizations and businesses are expected to boost the demand for cystinosis treatment in the region. Additionally, ongoing efforts in new product development to enhance existing treatment options are adding to the market's growth. As individuals become increasingly aware of various treatment modalities, including cysteine-depleting therapy for management purposes, the market in this region continues to expand. These factors collectively underscore North America's dominant position in the global cystinosis treatment market.

North America remains a prominent player in the global cystinosis treatment market, with the United States at the forefront. Government initiatives promoting infrastructure development, investment, and a focus on promoting healthy lifestyles have all contributed to the region's heightened demand for cystinosis treatment. The United States, in particular, has been proactive in implementing various initiatives and research efforts that have further stimulated the demand for cystinosis treatment.

Cystinosis Market Competitive Landscape

The competitive landscape of the Cystinosis treatment market involves assessing the competitive landscape to understand the strengths, weaknesses, opportunities, and threats. Cystinosis treatment providers are investing in the research development of innovative and more effective treatments. Among others, the following companies are included: Leadiant Biosciences, Inc., Recordati Rare Diseases, Horizon Therapeutics plc, CHIESI Farmaceutici S.p.A., BioSpectra, Inc., VIVAN Life Sciences, Viatris Inc., 3S Corporation, Merck KGaA, and Biophore.

Recent Developments

• As of June 12, 2023, the previously announced transaction involving the sale of AVROBIO, Inc.'s investigational gene therapy based on the hematopoietic stem cell (HSC) system for cystinosis to Novartis has been completed. The leading clinical-stage gene therapy company confirmed the closure of this agreement, wherein Novartis acquired the therapy for $87.5 million in cash. It is noteworthy that AVROBIO retains full ownership of its pioneering HSC gene treatments for Pompe disease, Hunter syndrome, and Gaucher disease types 1 and 3.
• Starting on July 14, 2023, the research team at UZH embarked on a quest to identify pre-existing medications that could potentially serve as treatments for cystinosis by utilizing the PandaOmics platform. This comprehensive analysis encompassed the evaluation of target enzymes, the structural attributes of the drugs, potential adverse effects, and their effectiveness within affected tissues. During this process, a highly promising candidate for cystinosis emerged from the already-approved medication known as rapamycin. Subsequent studies on model species and cell systems revealed that rapamycin therapy could restore lysosomal function and preserve cellular processes.

Table of Contents

1. Executive summary
2. MARKET INTRODUCTION
   • MARKET SCOPE
   • MARKET Definitions
3. research methodology
4. market outlook
   • Key Trends
   • GUIDELINES / REGULATIONS
   • COVID- 19 IMPACT ON GLOBAL Cystinosis Market
   • MARKET DYNAMICS
     • Drivers
       • Rising awareness among both patients and healthcare providers about Cystinosis
       • Improved diagnostic techniques
     • Restraints
       • Adverse effects associated with the cystamine depletion therapy
       • Limited availability of effective treatment options
       • High cost of Cystinosis treatment
     • Opportunities
       • Ongoing research and development efforts in investments
     • Challenges
       • Cystinosis is classified as a rare disease
       • Cystinosis patients remain at risk of stone recurrence
     • PriCing Analysis
     • PORTER’S FIVE FORCE MODEL
       • Threat of new entrants
       • Threat of substitute
       • Bargaining power of suppliers
       • Bargaining power of buyers
       • Intensity of competitive rivalry

5. GLOBAL Cystinosis Market, By Treatment, MARKET ESTIMATION AND FORECAST, 2019-2032), value (USD million)
   • INTRODUCTION
   • MARKET SHARE ANALYSIS
   • Cystine-Depleting Therapy
     • Cystagon
     • Procysbi
     • Cystaran
     • Cystadrops
   • Symptomatic Therapy
     • Fluid Replacement
     • Oral Calcium
     • Growth Hormone Therapy
     • Thyroxine Supplements
   • others
6. GLOBAL Cystinosis Market, BY distribution channel, MARKET ESTIMATION AND FORECAST, 2019-2032, value (USD million)
   • INTRODUCTION
   • MARKET SHARE ANALYSIS
   • Hospital Pharmacies
   • Retail Pharmacies
   • online Pharmacies
   • Others
7. GLOBAL Cystinosis Market, BY End User, MARKET ESTIMATION AND FORECAST, 2019-2032, value (USD million)
   • INTRODUCTION
   • MARKET SHARE ANALYSIS
   • Hospitals
   • Speciality Clinics
   • Others
8. GLOBAL Cystinosis Market, REGIONAL ANALYSIS MARKET ESTIMATION AND FORECAST, 2019-2032, value (USD million)
   • INTRODUCTION
   • NORTH AMERICA Cystinosis Market
     • North America Cystinosis Market, By Country
       • US
       • Canada
       • Mexico
     • North America Cystinosis Market, By Treatment
     • North America Cystinosis Market, By Distribution Channel
     • North America Cystinosis Market, By End User
   • EUROPE Cystinosis Market
     • Europe Cystinosis Market, By Country
       • Germany
       • UK
       • France
       • Italy
       • Spain
       • Russia
       • Rest of Europe
     • Europe Cystinosis Market, By Treatment
     • Europe Cystinosis Market, By Distribution Channel
     • Europe Cystinosis Market, By End User
   • ASIA PACIFIC Cystinosis Market
     • Asia Pacific Cystinosis Market, By Country
       • China
       • Japan
       • India
       • Australia
       • Singapore
       • South Korea
       • Thailand
       • Indonesia
       • Malaysia
       • Philippines
       • Rest of Asia Pacific
     • Asia Pacific Cystinosis Market, By Treatment
     • Asia Pacific Cystinosis Market, By Distribution Channel
     • Asia Pacific Cystinosis Market, By End User
   • MIDDLE EAST & AFRICA Cystinosis Market
     • Middle East & Africa Cystinosis Market, By Country
       • UAE
       • Saudi Arabia
       • South Africa
       • Rest of Middle East & Africa
     • Middle East & Africa Cystinosis Market, By Treatment
     • Middle East & Africa Cystinosis Market, By Distribution Channel
     • Middle East & Africa Cystinosis Market, By End User
   • SOUTH AMERICA Cystinosis Market
     • South America Cystinosis Market, By Country
       • Brazil
       • Argentina
       • Peru
       • Rest of South America
     • South America Cystinosis Market, By Treatment
     • South America Cystinosis Market, By Distribution Channel
     • South America Cystinosis Market, By End User

9. GLOBAL Cystinosis Market, COMPETITIVE Intelligence
   • COMPETITIVE POSITIONING
   • competitor benchmarking
   • COMPETITIVE QUADRANT
   • market share analysis, 2022 (%)
10. GLOBAL Cystinosis Market, COMPANY ANALYSIS
    • 3S Corporation
      • Company Overview
        • Business outlook
        • Headquarter
        • Established/Incorporated
        • Headcounts/ Employee strength
      • Financial Overview
        • Sales/revenue
        • R&D expenditure
        • Business segment sales share
        • Regional sales share
      • Product Offerings
      • SWOT Analysis
      • Key Developments (Expansion/New Product Development/Agreement/Mergers & Acquisitions, Partnership/Investment/Etc.)
    • Avrobio
    • Bayer
    • Biophore
    • BioSpectra, Inc.
    • CHIESI Farmaceutici S.p.A.
    • Eli Lilly
    • Eloxx Pharmaceuticals
    • Horizon Therapeutics plc
    • Johnson & johnson
    • Leadiant Biosciences, Inc.
    • Merck KGaA
    • Mylan Pharmaceuticals
    • Recordati Rare Diseases
    • Recordati S.p.A.
    • Viatris Inc.
    • VIVAN Life Sciences
    • others

*Financials and Details May Not be Included in Case of Privately Held Company

Global Cystinosis Market Segmentation

Cystinosis by Type: Market Size & Forecast 2023-2030

• Nephropathic cystinosis
• Ocular cystinosis
• Nephrologic cystinosis
• Other cystinosis

Cystinosis by Application: Market Size & Forecast 2023-2030

• Cystinosis diagnosis
• Cystinosis treatment
• Cystinosis monitoring

Cystinosis by Geography: Market Size & Forecast 2023-2030

• North America (USA, Canada, Mexico)
• Europe (Germany, UK, France, Russia, Italy, Rest of Europe)
• Asia-Pacific (China, Japan, South Korea, India, Southeast Asia, Rest of Asia-Pacific)
• South America (Brazil, Argentina, Columbia, Rest of South America)
• Middle East and Africa (Saudi Arabia, UAE, Egypt, Nigeria, South Africa, Rest of MEA)

Major Players:

• Horizon Therapeutics plc
• Recordati Rare Diseases Inc.
• Mylan N.V. (now part of Viatris Inc.)
• Merck & Co., Inc.
• Chiesi Farmaceutici S.p.A.
• Alexion Pharmaceuticals, Inc. (now part of AstraZeneca)
• Mallinckrodt Pharmaceuticals
• Retrophin, Inc. (now part of Sanofi)
• Apotex Inc.
• Leadiant Biosciences, Inc.
• Neovii Pharmaceuticals AG
• Orphan Europe (Recordati Group)
• Nobelpharma Co., Ltd.
• Carden Wyckoff Enterprises
• Anthera Pharmaceuticals, Inc.
• Neoleukin Therapeutics, Inc.
• Regeneron Pharmaceuticals, Inc.
• Pfizer Inc.
• Sanofi Genzyme
• Retrophin, Inc. (now part of Sanofi)
• Vifor Pharma Group
• Apellis Pharmaceuticals, Inc.
• Retrophin, Inc.
• Regenxbio Inc.
• Amicus Therapeutics, Inc.