Progressive Familial Intrahepatic Cholestasis Market

Key Highlights

• The Progressive Familial Intrahepatic Cholestasis (PFIC) market is anticipated to sustain a steady Compound Annual Growth Rate (CAGR) from 2024 to 2034. This growth in market revenue is chiefly propelled by advancements in diagnostic techniques, heightened awareness of the condition, and a growing number of reported cases.
• The PFIC cases are increasing due to several factors including genetic mutation. 
• The current PFIC market is marked by less competition as there are only a few companies including Ispen, Mirum Pharmaceuticals, and Takeda Pharmaceuticals, among others whose assets are approved for the treatment of PFIC.
• Current treatment options for PFIC are limited and often focus on symptom management. Developing novel, targeted therapies that address the underlying genetic defects or pathophysiological mechanisms of PFIC is crucial to improving outcomes and quality of life for affected individuals.
• To drive the PFIC market in future years, several companies such as Vivet Therapeutics, Mirum Pharmaceuticals, and others are developing their assets in the mid-late stage of development. With the expected approval of these therapies during the forecast period [2024–2034], the overall therapeutic market of PFIC is likely to witness a rise at a significant CAGR.

DelveInsight’s comprehensive report titled “Progressive Familial Intrahepatic Cholestasis (PFIC) — Market Insights, Epidemiology, and Market Forecast – 2034” offers a detailed analysis of PFIC. The report presents historical and projected epidemiological data covering Total Prevalent Cases and Diagnosed Prevalent Cases of PFIC further segmented by Types. In addition to epidemiology, the market report encompasses various aspects related to the patient population. These aspects include the diagnosis process, prescription patterns, physician perspectives, market accessibility, treatment options, and prospective developments in the market across seven major markets: the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan, spanning from 2020 to 2034.

The report analyzes the existing treatment practices and unmet medical requirements in PFIC. 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.

PFIC Overview

According to the National Institute of Health (NIH), Progressive Familial Intrahepatic Cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure in which liver cells are unable to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. The average age at onset is three months, although some patients do not develop jaundice until later, even as late as adolescence. PFIC can progress rapidly and cause cirrhosis during infancy or may progress relatively slowly with minimal scarring into adolescence. Few patients survive into the third decade of life without treatment.

The signs and symptoms of PFIC include short stature, deafness, diarrhea, pancreas inflammation (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.

Most people with PFIC3 and PFIC2 show signs and symptoms related to liver diseases only. The symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.

There are mainly three types of PFIC that occur due to mutations in the genes, such as ATP8B1, ABCB11, and ABCB4, which result in the development of PFIC1, PFIC2, and PFIC3 respectively. Mutations in these genes lead to a failure of proteins to function normally and thereby cause PFIC in many patients. PFIC usually appears in the first months of life in patients with PFIC1 resulting in characterized by recurrent episodes of jaundice, which become permanent later in the course of the disease. In the case of PFIC2, the initial presentation and the evolution seem to become more severe, resulting in permanent jaundice from the first months of life and the rapid appearance of liver failure within the first years of life.

PFIC Diagnosis and Treatment Algorithm 

PFIC can be diagnosed through genetic testing, blood tests, and liver biopsy. In children with suspected cholestasis, PFIC should be considered after ruling out more common causes of cholestasis.

PFIC type 1 and PFIC type 2 are characterized by low to normal levels of the enzyme gamma-glutamyl-transferase (GGT), along with high levels of bilirubin (the main bile pigment in humans) and bile acid levels, whereas PFIC type 3 is characterized by high GGT levels. Additionally, a test may be done to determine the bile salt concentration. In patients with PFIC, bile salt concentrations are 10-20 times higher than normal.

The differential diagnoses of PFIC include Aagenes Syndrome, Alpha1-Antitrypsin (AAT) Deficiency, Arthrogryposis-Renal Dysfunction Cholestasis Syndrome, Autoimmune Hepatitis, Benign Recurrent Intrahepatic Cholestasis, Bile Acid Synthetic Disorder, Biliary Atresia Imaging, Choledochal Cysts, and others.

Currently, the market of PFIC has BYLVAY (odevixibat) and LIVMARLI (maralixibat) as the only FDA-approved drugs. Changes in the diet, medicines, and surgical treatments can also reduce the effects and complications of the condition. The treatment, which is generally symptomatic involves observation of the expert physicians depending on the features and severity of the condition and its effects.

There are certain off-label drugs for the symptomatic treatment for PFIC, such as ursodeoxycholic acid (UDCA), cholestyramine, rifampicin, phenobarbital, antihistaminic agents, opiate antagonists, ondansetron, steroids, propofol, and carbamazepine.

In the initial stages of treatment for PFIC, odevixibat can be used to treat pruritus (itching) in children 3 months of age and older. Dietary management can be followed that is based on specific symptoms and characteristics of patients. Reduced bile flow can lead to problems digesting fat and vitamins from a child's diet. Therefore, fat-soluble vitamin supplements (A, D, E and K) may be used to confirm proper absorption of bile in the bile ducts. Along with the vitamin supplements, calcium intake is also advised by the physicians.

After dietary management in PFIC patients, the next followed treatment approach includes medications, such as Ursodeoxycholic acid (UDCA), which is a nontoxic hydrophilic bile acid that reverses the potential hepatotoxicity of the accumulating endogenous bile acids resulting in reduced cholestasis. Another followed drug includes Cholestyramine which is an oral bile acid-binding resin used to resolve pruritus. It forms nonabsorbable micelles with the bile acids in the intestines and prevents bile acids from entering the enterohepatic cycle.

The only major treatment for PFIC is surgical intervention, which involves Partial External Biliary Diversions (PEBD), Partial Internal Biliary drainage (PIBD), and Ileal exclusion/bypass (IE). PEBD involves the use of a 10–15 cm jejunal conduit between the fundus of the gallbladder and abdominal skin which interrupts the enterohepatic circulation of bile salts. PEBD may be used as the first choice of treatment for patients who have not yet developed cirrhosis. PIBD involves open surgery or laparoscopy. 

Lastly, Liver transplantation (LT) is opted when medical treatment or biliary diversions fail to provide relief from the symptoms or if end-stage liver disease (ESLD) develops. It involves and improves cholestasis and related symptoms in most patients, irrespective of the PFIC patients usually have a decent prognosis. Transplants from heterozygous parents are successful. Most PFIC disorders progress to end-stage liver disease and require a liver transplant. Survival rates are high for liver transplants to treat PFIC patients.

PFIC Epidemiology

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

This section also presents the data with relevant tables and graphs, offering a clear and concise view of the prevalence of PFIC. 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

During the analysis of PFIC, it was determined that PFIC occurs in approximately 1 per 18,000 live births in the UK.

It was found that PFIC accounts for approximately 10–15% of children diagnosed with cholestatic liver diseases.

The analysis revealed that PFIC affects approximately between 1 per 50,000 and 1 per 100,000 births in France.

It was further observed that PFIC1 and PFIC2 accounted for two out of every three cases of total PFIC, while PFIC3 constituted one case for every three cases.

During the analysis, it was noted that the primary clinical manifestations of PFIC include cholestasis, pruritus, and jaundice. Additionally, PFIC patients typically progress to develop fibrosis and end-stage liver disease before reaching adulthood.

The epidemiology of PFIC is expected to change during the forecast period (2024-2034).

PFIC Market Outlook

The PFIC 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 [2024–2034].

In March 2024, the US FDA approved LIVMARLI (maralixibat) oral solution for the treatment of cholestatic pruritus in patients five years of age and older with progressive familial intrahepatic cholestasis (PFIC). Mirum Pharmaceuticals has also submitted an additional supplemental new drug application (sNDA) to introduce a higher concentration formulation of LIVMARLI, used during the MARCH study, to enable label expansion for younger patients with PFIC, later this year.

In September 2021, the US FDA approved BYLVAY for the treatment of pruritus in patients 3 months of age and older with PFIC. BYLVAY is the first drug approved for the treatment of pruritus in all subtypes of PFIC.

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 PFIC market in the 7MM is expected to change significantly during the study period 2020–2034.

PFIC Recent Developments

• In April 2025, Mirum Pharmaceuticals announced the FDA approval of a new tablet formulation of LIVMARLI® (maralixibat) for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC).

PFIC Drug Chapters 

Marketed PFIC Drugs

BYLVAY: Ispen

BYLVAY is a potent, once-daily, non-systemic IBATi that acts locally in the small intestine and has minimal systemic exposure. It is approved in the U.S. for the treatment of pruritus in patients three months of age and older with PFIC, where it has orphan exclusivity. BYLVAY was first launched as a treatment option for patients with PFIC in the US in 2021, where it is supported by a program designed to assist with access to treatment and patient support. BYLVAY is also approved in the EU for the treatment of PFIC in patients aged six months or older. It has launched in over nine countries and has secured public reimbursement across several major markets including Germany, Italy, the UK, and France, among others.

LIVMARLI: Mirum Pharmaceuticals/Takeda Pharmaceuticals

LIVMARLI (maralixibat) oral solution is an orally administered, once-daily, ileal bile acid transporter (IBAT) inhibitor and the only approved medication by the US FDA for the treatment of cholestatic pruritus in patients with progressive familial intrahepatic cholestasis (PFIC) five years of age and older. LIVMARLI has the potential to have a transformational impact on patients with cholestatic pruritus associated with PFIC, and importantly, offers an option for those patients with the rarest of subtypes.

Note: Detailed marketed therapies assessment will be provided in the final report.

Emerging PFIC Drugs

The PFIC market is expected to experience gradual changes, mainly due to the limited availability of emerging therapies in this area. Key market players, including Vivet Therapeutics, Mirum Pharmaceuticals, and others have demonstrated a keen interest in this condition and are actively pursuing the development of potential treatments.

VTX-802 and VTX-803: Vivet Therapeutics/Mirum Pharmaceuticals

Vivet Therapeutics is investigating two therapies, namely, VTX-802 and VTX-803, which are still in the preclinical stages of development for PFIC Type 2 and PFIC Type 3 respectively. In June 2020, Vivet Therapeutics received an Orphan Drug Designation from both the FDA and the EMA for its second gene therapy product, VTX-803, for the treatment of PFIC3. In 2021, Mirum Pharmaceuticals and Vivet Therapeutics filed an agreement whereby Mirum has the exclusive option to develop and subsequently commercialize Vivet’s two proprietary AAV gene therapy programs for progressive familial intrahepatic cholestasis (PFIC), subtypes 3 and 2. The two programs, VTX-803 and VTX-802, are currently being evaluated in preclinical studies by Vivet Therapeutics. Under the terms of the agreement, Vivet will continue to advance the preclinical studies for VTX-803 and VTX-802 for PFIC3 and PFIC2, respectively. Mirum has the exclusive option to license the programs after which Mirum would lead the clinical development and any future commercialization of the programs.

Note: Detailed emerging therapies assessment will be provided in the final report.

PFIC Market Segmentation

DelveInsight’s ‘Progressive Familial Intrahepatic Cholestasis (PFIC) – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a detailed outlook of the current and future PFIC 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. 

PFIC Market Size by Countries

The PFIC market size is assessed separately for various countries, including the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan. In 2023, the United States held a significant share of the overall 7MM (Seven Major Markets) PFIC 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.

Note: Detailed market segment assessment will be provided in the final report.

PFIC Drugs Uptake

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

The emerging PFIC 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 PFIC market.

Note: Detailed assessment of drug uptake and attribute analysis will be provided in the full report on PFIC.

PFIC Market Access and Reimbursement

DelveInsight’s ‘PFIC – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a descriptive overview of the market access and reimbursement scenario of PFIC.

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

KOL Views

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

PFIC: KOL Insights

DelveInsight’s analysts connected with 50+ KOLs to gather insights; however, interviews were conducted with 15+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as the American Liver Foundation, Biochemistry, Bicêtre Hospital, University of Paris-sud XI, Assistance Publique-Hôpitaux de Paris, Pediatric Hepatology and National Reference Centre for Biliary Atresia, Bicêtre Hospital, University of Paris-sud XI, Assistance Publique-Hôpitaux de Paris in Paris, Pediatric Institute, Cleveland Clinic Children’s Hospital in the US, University Medical Center of the Johannes Gutenberg-University in Germany, among others. 

“Novel drug development is an ongoing opportunity for patients suffering from PFIC. Many new developments are expected in this therapeutic area.”

“Effective management strategies and targeted research are essential to address the complex challenges posed by PFIC and improve outcomes for affected individuals.”

Note: Detailed assessment of KOL Views will be provided in the full report on PFIC.

Competitive Intelligence Analysis

We conduct a Competitive and Market Intelligence analysis of the PFIC 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.

PFIC Pipeline Development Activities

The report offers an analysis of therapeutic candidates in Phase II and III stages and examines companies involved in developing targeted therapeutics for PFIC. 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 PFIC therapies.

PFIC Report Insights

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

PFIC Report Key Strengths

• 11 Years Forecast
• The 7MM Coverage
• PFIC Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed PFIC Market
• PFIC Drugs Uptake
• PFIC Report Assessment
• PFIC Current Treatment Practices
• Unmet Needs
• PFIC Pipeline Product Profiles
• PFIC Market Attractiveness

Key Questions

• How common is PFIC?
• What are the key findings of PFIC 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 PFIC?
• What is the disease risk, burden, and unmet needs of PFIC?
• At what CAGR is the PFIC market and its epidemiology expected to grow in the 7MM during the forecast period (2024–2034)?
• How would the unmet needs impact the PFIC market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of PFIC in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?
• Among EU4 and the UK, which country will have the highest number of patients during the forecast period (2024–2034)?
• How many companies are currently developing therapies for the treatment of PFIC?
• Reasons to buy
• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the PFIC Market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the existing market opportunity in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of current treatment in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.
• Highlights of Access and Reimbursement policies of approved therapies, barriers to accessibility of off-label expensive therapies, and patient assistance programs.
• To understand the perspective of Key Opinion Leaders around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.