Diamond–Blackfan Anemia - Market Insight, Epidemiology and Market Forecast – 2034

Diamond–Blackfan Anemia - Market Insight, Epidemiology and Market Forecast – 2034

Key Highlights

According to DelveInsight’s estimates, in 2023, there were approximately 65 thousand diagnosed prevalent cases of Primary Sclerosing Cholangitis (PSC) across the 7MM. The United States accounted for about 50% of these cases, with the EU4 and the UK comprising around 46%, and Japan contributing about 4%.

The PSC market is set for rapid growth, with a strong compound annual growth rate (CAGR) projected from 2024 to 2034. This expansion across the 7MM will be fueled by the introduction of innovative therapies, including CM-101, Bexotegrast (PLN-74809), and norUrsodeoxycholic acid, among others. Additionally, increased awareness and advancements in diagnostic techniques for PSC are expected to lead to a rise in diagnosed cases, further driving market demand.

According to DelveInsight’s analysis, the PSC market in the 7MM was valued at approximately USD 76 million in 2023. Over the forecast period from 2024 to 2034, this market is projected to grow at a CAGR of 40%.

Currently, there are no approved treatments for PSC, with patients often relying on symptom management and liver transplantation in severe cases. This unmet need has led to strong demand for novel therapies, creating opportunities for new drug development.

Emerging treatments, particularly anti-fibrotic (e.g., Bexotegrast) and anti-inflammatory agents (e.g., CM-101), target underlying disease mechanisms rather than symptom relief, offering transformative potential in treating PSC.

A major market barrier for PSC is the lack of established clinical endpoints for drug approval. PSC progresses slowly and unpredictably, making it difficult to identify reliable, short-term surrogate endpoints for clinical trials. Regulatory authorities, such as the FDA and EMA, often require long-term data on disease progression, liver function, and transplant-free survival, which significantly extends clinical trial durations and increases the cost and complexity of drug development. This lack of consensus on endpoints creates uncertainty for companies and can delay the entry of new therapies into the market.

DelveInsight’s “Primary Sclerosing Cholangitis (PSC) – Market Insights, Epidemiology, and Market Forecast – 2034” report delivers an in-depth understanding of PSC, historical and forecasted epidemiology, as well as the PSC market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The PSC market report provides current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted 7MM PSC market size from 2020 to 2034. The report also covers PSC treatment practices/algorithms and unmet medical needs to curate the best opportunities and assess the market’s potential.

PSC Understanding and Treatment Algorithm

PSC overview

According to the National Organization for Rare Disorders (NORD), Primary Sclerosing Cholangitis (PSC) is a rare progressive disorder characterized by inflammation, thickening, and abnormal formation of fibrous tissue (fibrosis) within the passages that carry bile from the liver (bile ducts). Both the bile ducts within the liver (intrahepatic) and outside the liver (extrahepatic) are affected, resulting in the obstruction or interruption of bile flow from the liver (cholestasis).

In patients with PSC, the bile ducts become blocked due to inflammation and scarring or fibrosis. This blockage leads to the accumulation of bile in the liver, gradually damaging liver cells and causing cirrhosis or further fibrosis of the liver. As cirrhosis progresses and scar tissue increases, the ’liver’s ability to function deteriorates. The scar tissue can also obstruct the drainage of the bile ducts, potentially leading to bile infections.

The exact cause of PSC is unknown, but genetic and environmental factors are believed to play a role in its development. Inflammatory bowel disease (IBD) is a significant risk factor for PSC.

Many individuals with PSC do not experience symptoms, particularly in the early stages of the disease. When symptoms do occur, the most common ones include fatigue, pruritus (itchy skin), and jaundice. These symptoms can be intermittent but may progressively worsen over time. As the disease advances, bile ducts can become infected, resulting in fever, chills, and abdominal pain. In some cases, the liver may become abnormally enlarged (hepatomegaly). Liver scarring (cirrhosis) eventually develops, and many patients ultimately require a liver transplant.

PSC diagnosis

The diagnosis of PSC involves a comprehensive clinical evaluation, including a detailed patient history, identification of characteristic clinical findings, and several specialized tests. Blood tests, such as liver function tests, are commonly performed to assess liver health. Additional blood tests may be conducted to detect substances like autoantibodies, which can help diagnose PSC or rule out other conditions. Specialized imaging tests are often used to confirm a PSC diagnosis. A liver biopsy might be done to evaluate the ’liver’s condition and determine the extent of PSC progression. Due to the strong association between PSC, IBD, and colon cancer, some physicians may also recommend a colonoscopy to evaluate bowel health and function.

Further details related to country-based variations are provided in the report…

PSC treatment

Currently, there is no cure or established treatment for PSC. While some studies suggest that Ursodeoxycholic Acid (UDCA) may help improve symptoms and extend survival, its effectiveness remains uncertain. For patients with advanced PSC, liver transplantation is the only therapeutic option available.

PSC Epidemiology

As the market is derived using a patient-based model, the PSC epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by total diagnosed prevalent cases of PSC, gender-specific diagnosed prevalent cases of PSC, comorbidity-specific diagnosed prevalent cases of PSC, and symptom-specific diagnosed prevalent cases of PSC in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

According to DelveInsight’s epidemiology model, in the 7MM, the total diagnosed prevalent cases of PSC were approximately 65 thousand in 2023. This number is anticipated to rise during the forecast period (2024-2034), driven by increased awareness and improved diagnostic techniques.

In 2023, the US accounted for the highest number of diagnosed prevalent cases of PSC, with approximately 32 thousand cases, while Japan accounted for the least, with only 2 thousand cases.

Among the EU4 and the UK, Germany accounted for the highest number of diagnosed prevalent cases of PSC, with approximately 9 thousand cases in 2023, followed by France and the UK with nearly 7 thousand cases.

Among the gender -specific diagnosed prevalent cases of PSC in the US in 2023, there were approximately 23 thousand cases for males and 10 thousand cases for females.

In 2023, among the EU4 and the UK, there were 14 thousand asymptomatic and 16 thousand symptomatic diagnosed prevalent cases of PSC. These numbers are expected to rise further over the forecast period.

In 2023, Japan reported approximately 8 hundred cases of inflammatory bowel disease among the patients diagnosed with PSC.

PSC Drug Chapters

Emerging Drugs

Norursodeoxycholic Acid (norUDCA): Dr. Falk Pharma GmbH/EA Pharma

Norursodeoxycholic acid (norUDCA) is a synthetic bile acid and a homologue of Ursodeoxycholic Acid (UDCA), distinguished by its shorter side chain. Unlike UDCA, norUDCA shows resistance to conjugation with taurine and glycine. When secreted into the bile in its non-conjugated form, norUDCA can be reabsorbed by cholangiocytes and transported back to hepatocytes, a process known as cholehepatic shunting. This mechanism enhances bicarbonate ion secretion in the bile duct and stimulates bile acid production, providing protective effects for both the bile duct and the liver.

Currently, the drug is being evaluated in Phase III of clinical development for the treatment of PSC.

Bexotegrast (PLN-74809): Pliant Therapeutics

Bexotegrast (PLN-74809) is an oral, small molecule, dual-selective inhibitor of the αvβ6 and αvβ1 integrins being developed for the treatment of PSC. The αvβ6 and αvβ1 integrins are expressed at very low levels in normal tissues but are upregulated in the liver tissues of PSC patients. Both integrins activate TGF-ß, leading to increased collagen production and, ultimately, fibrosis in these tissues.

In July 2024, Pliant Therapeutics announced positive 24-week data from the 320 mg cohort of the INTEGRIS-PSC Phase IIa clinical trial of bexotegrast. It evaluated its efficacy in patients with PSC and suspected moderate to severe liver fibrosis.

Pliant recently met with the US FDA to discuss the potential development path for bexotegrast in PSC. The US FDA expressed support for a 52-week, dose-ranging Phase IIb trial using non-invasive endpoints. Pliant will assess the optimal strategy for advancing this program.

CM-101 (CCL24-Neutralizing Antibody): Chemomab Therapeutics

CM-101 is a monoclonal antibody designed to neutralize CCL24, a soluble protein that plays a crucial role in driving inflammatory and fibrotic pathways in various fibro-inflammatory diseases. The therapeutic potential of targeting CCL24 has been validated through extensive clinical and non-clinical research, and proof-of-concept for CM-101 has been demonstrated in numerous animal and patient sample studies.

In July 2024, Chemomab Therapeutics announced positive topline results from the Phase II SPRING trial, which evaluated its first-in-class monoclonal antibody, CM-101, in patients with PSC. The company believes these results strongly support advancing CM-101 to a Phase III trial for PSC.

Chemomab is currently preparing for an End-of-Phase II meeting with the US FDA to discuss the SPRING trial outcomes and the design of a proposed Phase III trial aimed at accelerated approval. The company expects to complete these discussions by the end of the year and to receive official written feedback from the FDA in the first quarter of 2025.

Drug Class Insights

The drug landscape for PSC is evolving, though no therapies have been officially approved for the condition to date. However, several drug classes are currently under investigation, targeting various mechanisms involved in the disease's pathophysiology:

Anti-Fibrotic Agents: Fibrosis is a hallmark of PSC, and anti-fibrotic drugs are gaining traction. For instance, Bexotegrast (PLN-74809) aims to inhibit fibrosis by targeting integrins, showing promise in reducing liver scarring and halting disease progression. Anti-fibrotic therapies could offer the potential to address one of the core drivers of PSC progression, and they are likely to play a crucial role in future treatment approaches.

Bile Acid Modulators: Bile acid dysregulation is central to PSC pathogenesis, and bile acid modulators like norUrsodeoxycholic acid aim to reduce bile duct inflammation and improve liver function. These agents focus on restoring the normal flow of bile and alleviating cholestasis, which could provide symptomatic relief and prevent further liver damage.

Immunomodulators: PSC is thought to have an autoimmune component, leading to the development of immunomodulation drugs. CM-101 is an example of an anti-inflammatory therapy targeting the CCL24 pathway, aiming to reduce immune-mediated liver damage. These therapies target inflammation and immune activation, addressing a fundamental aspect of the disease's progression.

In summary, the drug class landscape for PSC is diverse and targets multiple disease mechanisms, including fibrosis, immune dysregulation, and bile acid metabolism. The success of these classes, particularly anti-fibrotic and bile acid modulators, could transform the future treatment paradigm of PSC, addressing the significant unmet needs in this complex condition.

Continued in report…

Market Outlook

PSC is a chronic and progressive liver disease marked by inflammation and fibrosis of the bile ducts, which ultimately leads to liver damage and, if untreated, liver failure.

In the realm of pharmacological treatments, despite extensive research efforts, no FDA-approved therapies currently exist for PSC, underscoring a significant gap and opportunity within the therapeutic landscape. As a result, treatment strategies often rely on the off-label use of various drug classes, though none have demonstrated definitive efficacy. Ursodeoxycholic Acid (UDCA) is frequently prescribed to improve liver enzyme levels, yet its influence on long-term outcomes remains ambiguous. Immunosuppressive agents, such as corticosteroids and azathioprine, have also been explored, given the immune-mediated aspects of the disease, but they have not consistently proven beneficial in large-scale studies. Additionally, antibiotics like vancomycin and metronidazole are occasionally utilized off-label, particularly in pediatric cases, due to their potential anti-inflammatory and immune-modulating properties. However, the supporting evidence is limited.

Supportive care is a vital component of managing PSC, focusing on symptom relief and the prevention of complications. For instance, cholestyramine is commonly employed to alleviate pruritus, a prevalent symptom, by reducing bile acid levels. Patients with cholestasis may also require supplementation with fat-soluble vitamins (A, D, E, K) to prevent deficiencies. In some cases, endoscopic therapy is used to address bile duct strictures, offering symptomatic relief and decreasing the risk of cholangitis. Comprehensive care also involves nutritional support and regular monitoring for complications such as osteoporosis and portal hypertension.

The absence of approved treatments has led to the widespread use of off-label therapies. While UDCA is widely used, its effectiveness is debated, with some studies suggesting potential harm at higher doses. Immunosuppressants, though conceptually advantageous due to the autoimmune nature of PSC, have not shown consistent efficacy in clinical trials. Antibiotics, particularly vancomycin, have shown some promise in small studies, especially in pediatric populations, but further research is necessary to confirm their effectiveness. Other experimental off-label treatments include obeticholic acid, a bile acid analog, and fibrates, which target lipid metabolism, though their role in PSC remains under investigation.

For patients with advanced PSC and severe complications, liver transplantation is the sole curative option, often resulting in substantial enhancements in both quality of life and survival rates. The procedure alleviates debilitating symptoms and addresses liver failure, with five-year survival rates reaching approximately 80-85%. However, challenges such as the recurrence of PSC and the need for lifelong immunosuppression underscore the complexity of post-transplant management, necessitating careful monitoring and individualized care.

Continued in report…

Key players like Pliant Therapeutics, HighTide Biopharma, Mirum Pharmaceuticals, Chemomab Therapeutics, NGM Biopharmaceuticals, and others are evaluating their lead candidates in different stages of clinical development. They aim to investigate their products to treat PSC.

The total market size of PSC in the 7MM was approximately USD 76 million in 2023 and is projected to increase during the forecast period (2024–2034), with a CAGR of approximately 40%.

The total market size of PSC in the US was approximately USD 43.8 million in 2023, accounting for approximately 58% of the total market revenue for the 7MM.

The total market size of PSC in EU4 and the UK was calculated to be approximately USD 29.5 million in 2023. Among the EU4 and the UK, Germany accounted for the highest market with approximately USD 8.7 million, followed by France and the UK with nearly USD 7 million.

The total market size of PSC in Japan was approximately USD 2.8 million in 2023.

PSC Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2020–2034. For example CM-101 is expected to enter the US market in 2028 and is projected to have a medium-fast uptake during the forecast period.

Further detailed analysis of emerging therapies drug uptake in the report…

PSC Pipeline Development Activities

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

Pipeline development activities

The report covers information on collaborations, acquisitions and mergers, licensing, and patent details for emerging therapies for PSC.

KOL Views

To keep up with current market trends, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on PSC evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, and drug uptake, along with challenges related to accessibility, including Medical/scientific writers, Medical Professionals, Professors, Directors, and Others.

DelveInsight’s analysts connected with 50+ KOLs to gather insights; however, interviews were conducted with 15+ KOLs in the 7MM. Centers like the American College of Gastroenterology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Digestive Disease Institute, Cleveland Clinic, USA, University Medical Center Hamburg-Eppendorf, Germany, University of Genova and Policlinico San Martino Hospital, Italy, and Tohoku University Hospital, Sendai, Japan among others, were contacted. Their opinion helps understand and validate current and emerging therapy treatment patterns or PSC market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Physician’s View

“At present, the absence of FDA-approved therapies specifically targeting PSC underscores a significant gap in the treatment arsenal. The enigmatic etiology of the disease complicates the development of targeted interventions, leaving clinicians with limited options. Current therapeutic approaches are predominantly symptomatic, addressing complications rather than altering the disease trajectory or halting its progression.”

“Advancement of new drug treatments for PSC into Phase II and III trials is promising, but defining appropriate trial endpoints remains a critical unmet need. PSC’s unpredictable and prolonged course complicates the identification of reliable endpoints, impeding accurate assessment of therapeutic efficacy and slowing drug development. Standardized, validated endpoints are urgently needed to address this challenge.”

“Chronic symptoms such as fatigue, pruritus, and abdominal pain severely compromise the quality of life for patients with PSC. These pervasive and debilitating manifestations highlight a critical unmet need for therapies that can effectively mitigate these symptoms. Enhancing symptom management is essential for improving overall patient well-being and functional capacity, which are currently inadequately addressed in existing treatment paradigms.”

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT and Conjoint Analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst’s discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

Conjoint Analysis analyzes multiple emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

To analyze the effectiveness of these therapies, have calculated their attributed analysis by giving them scores based on their ability to improve atrial and ventricular dimension/function and ability to regulate heart rate.

Further, the therapies’ safety is evaluated wherein the adverse events are majorly observed, and it sets a clear understanding of the side effects posed by the drug in the trials, which directly affects the safety of the molecule in the upcoming trials. It sets a clear understanding of the side effects posed by the drug in the trials. In addition, the scoring is also based on the route of administration, order of entry and designation, probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Market Access and Reimbursement

The report provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenarios, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Further details will be provided in the report.

Scope of the Report

The report covers a segment of key events, an executive summary, and a descriptive overview of PSC explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.

Comprehensive insight into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, disease progression, and treatment guidelines have been provided.

Additionally, an all-inclusive account of the current and emerging therapies and the elaborative profiles of late-stage and prominent therapies will impact the current treatment landscape.

A detailed review of the PSC market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.

The report provides an edge while developing business strategies by understanding trends through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help shape and drive the 7MM PSC market.

PSC report insights

Patient Population

Therapeutic Approaches

PSC Pipeline Analysis

PSC Market Size and Trends

Existing and Future Market Opportunity

PSC report key strengths

11 years Forecast

The 7MM Coverage

PSC Epidemiology Segmentation

Key Cross Competition

Attribute analysis

Drugs Uptake and Key Market Forecast Assumptions

PSC report assessment

Current Treatment Practices

Unmet Needs

Pipeline Product Profiles

Market Attractiveness

Qualitative Analysis (SWOT and Attribute Analysis)

Key Questions

Market Insights

What was the total market size of PSC, the market size of PSC by therapies, and market share (%) distribution in 2020, and what would it look like by 2034? What are the contributing factors for this growth?

How will CM-101 affect the treatment paradigm of PSC?

Which drug is going to be the largest contributor by 2034?

What are the pricing variations among different geographies for approved and marketed therapies?

How would future opportunities affect the market dynamics and subsequent analysis of the associated trends?

Epidemiology Insights

What are the disease risks, burdens, and unmet needs of PSC? What will be the growth opportunities across the 7MM with respect to the patient population pertaining to PSC?

What is the historical and forecasted PSC patient pool in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?

Out of the countries mentioned above, which country would have the highest diagnosed prevalent PSC population during the forecast period (2024–2034)?

What factors are contributing to the growth of PSC cases?

Current Treatment Scenario, Marketed Drugs, and Emerging Therapies

What are the current options for the treatment of PSC? What are the current clinical and treatment guidelines for treating PSC?

How many companies are developing therapies for the treatment of PSC?

How many emerging therapies are in the mid-stage and late stage of development for treating PSC?

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

What is the cost burden of current treatment on the patient?

Patient acceptability in terms of preferred treatment options as per real-world scenarios?

What are the accessibility issues of approved therapy in the US?

What is the 7MM historical and forecasted market of PSC?

Reasons to Buy

The report will help develop business strategies by understanding the latest trends and changing treatment dynamics driving the PSC 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.

Understand the existing market opportunities in varying geographies and the growth potential over the coming years.

The distribution of historical and current patient share is based on real-world prescription data in the US, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Identifying upcoming solid players in the market will help devise strategies to help get ahead of competitors.

Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.

Highlights of access and reimbursement policies for PSC, barriers to accessibility of approved therapy, and patient assistance programs.

To understand Key Opinion Leaders’ perspectives 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.