phenylketonuria pku market insight

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

The PKU market report provides current treatment practices, emerging drugs, and market share of the individual therapies, current, and forecasted 7MM PKU market size from 2018 to 2030. The Report also covers current PKU 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

Phenylketonuria (PKU) Disease Understanding and Treatment Algorithm

Phenylketonuria (PKU) Overview

Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life via routine newborn screening. PKU is characterized by the absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine. Amino acids are the chemical building blocks of proteins and are essential for proper growth and development. With normal PAH activity, phenylalanine is converted to another amino acid, tyrosine. However, when PAH absent or deficient, phenylalanine accumulates and is toxic to the brain. Without treatment, most people with PKU would develop a severe intellectual disability. To prevent intellectual disability, treatment consists of a carefully controlled, phenylalanine-restricted diet beginning during the first days or weeks of life.

PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. Since each parent also has a normal gene, they do not show signs or symptoms of PKU.

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Phenylketonuria (PKU) Diagnosis

PKU diagnosis is achieved soon after birth by neonatal screening in most developed countries. In the countries where expanded newborn screening has been adopted, PKU is diagnosed by Phe and Tyr's evaluation in neonatal dried blood spot (DBS) using tandem mass spectrometry. Virtually, 100% of PKU subjects should be identified. The risk of false-negative has become more pressing with early postnatal discharge from the hospital for mothers and term infants. In such cases, Phe/Tyr ratio evaluation increase the sensitivity and positive predictive value of the test, avoiding the false-negative and lowering false-positive risk. Other methods used for PKU neonatal screening, although still utilized, do not allow the simultaneous evaluation of Tyr in the neonatal DBS. Bacterial inhibition assay (Guthrie test) is a simple, inexpensive, and reliable test used for many decades; however, it is a manual, semiquantitative test and is being replaced by other methods in quite all screening laboratories. Some laboratories use a fluorimetric test that is quantitative, automated, and reliable.

Immediately after the first positive test, it is necessary to confirm the positive Phe value. As in all screening programs, the confirmation methods should show a higher specificity to exclude false positives. In this case, Phe and Tyr should be tested in plasma by using tandem mass spectrometry or even better with chromatographic methods (ionic-exchange or HPLC).

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Phenylketonuria (PKU) Treatment

The special diet should start as soon as PKU is diagnosed and should be continued for the rest of the person’s life. New medicines are being developed to lower PKU in the blood, but medical nutrition therapy is the main treatment for PKU.

Treatment for PKU involves following a strict diet that is low in phenylalanine. A carefully maintained diet can prevent intellectual disability as well as neurological, behavioral, and dermatological problems. Babies with PKU need to be on a special formula as soon as possible, and it is advised to children and adults to eat a low-protein diet. Patients should avoid high-protein foods like milk, dairy, meats, eggs, nuts, soy, beans, and artificial sweeteners such as aspartame, which contains phenylalanine.

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Phenylketonuria (PKU) Epidemiology  

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by Diagnosed Prevalent Cases of Phenylketonuria (PKU), Age-specific Diagnosed Prevalent Cases of Phenylketonuria (PKU), Severity-specific Diagnosed Prevalent Cases of Phenylketonuria (PKU), Diagnosed Prevalent Cases of Phenylketonuria (PKU) by Mutation type 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

• The total diagnosed prevalent cases of PKU in the 7MM was 49,887 in 2020 which might increase in 2030 at a CAGR of 0.58% for the study period of 2018-2030.
• It is estimated that there were nearly 17,670 diagnosed prevalent cases of PKU in the US in 2020. In EU-5, Germany has the highest number of cases, i.e., 8,317, followed by France with 7,523 cases and UK with 6,564 cases. While, Spain has the least number of cases with 2,490 in 2020.
• Based on severity, the majority of cases of PKU were found in Classical type as compared to mild PKU, and mild hyperphenylalaninemia (MHP). But in countries like, Germany and Japan, mild PKU have majority of the cases.

Country-Wise Phenylketonuria (PKU) Epidemiology

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

Phenylketonuria (PKU) Drug Chapters

Phenylketonuria (PKU) Emerging Drugs

CNSA-001 (PTC923, Sepiapterin): PTC Therapeutics

PTC923 is an oral formulation of synthetic sepiapterin, a precursor to intracellular tetrahydrobiopterin, which is a critical enzymatic cofactor involved in the metabolism and synthesis of numerous metabolic products. Sepiapterin reductase plays an enzymatic role in the biosynthesis of tetrahydrobiopterin, which is reported in limited studies to regulate the progression of several tumors.

Sepiapterin, a natural precursor of BH4, is a more stable molecule and is transported more efficiently across cellular membranes, thus having a potentially significant advantage over BH4 as a pharmacological agent for diseases associated with BH4-deficient conditions (Smith et al., 2019).

The Phase II trial evaluating CNSA-001 for PKU met its primary and secondary endpoints in December 2019, and the program is Phase III ready.

Products detail in the report…

HMI-102: Homology Medicines

HMI-102 is being developed by Homology Medicines as an investigational gene therapy to treat phenylketonuria (PKU) in adults. The therapy is designed to encode the PAH gene, which is mutated in people with PKU, delivered via the liver-tropic AAVHSC15 vector. It consists of an AAVHSC15 vector containing the coding sequence of human PAH under the control of a promoter designed to express PAH continuously, specifically in the liver. The company chose AAVHSC15 as the basis of this product candidate because of its tropism for the liver, the normal site for PAH protein expression.

Products detail in the report…

SYNB1618: Synlogic

SYNB1618 is an oral investigational synthetic biotic medicine designed to break down Phe in the GI tract, potentially reducing plasma Phe levels or allowing patients to consume higher amounts of natural protein, improving their quality of life. To date, the company has determined that SYNB1618 can effectively break down phenylalanine in the GI tract of both healthy volunteers and patients. Synlogic now has initiated a Phase II study in PKU patients called SynPheny-1 to see if SYNB1618 can decrease Phe levels in the blood

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Phenylketonuria (PKU) Market Outlook

Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. Newborns with PKU initially do not have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. People with PKU can relieve their symptoms and prevent complications by following a special diet and taking medications.

The goal of treatment for PKU is to keep plasma phenylalanine levels within 120−360 µmol/L (2−6 mg/dL). This is generally achieved through a carefully planned and monitored diet. Limiting the child’s intake of phenylalanine must be cautiously done because it is an essential amino acid. A carefully maintained diet can prevent intellectual disability as well as neurological, behavioral, and dermatological problems. Treatment must be started at a very young age, or some degree of intellectual disability may be expected. However, even some late-treated children have done quite well. Studies have repeatedly demonstrated that children with PKU who are treated with a low phenylalanine diet before the age of 3 months do well, with an IQ in the normal range.

The main way to treat PKU is to eat a special diet that limits foods containing phenylalanine. Infants with PKU may be fed breast milk. They usually also need to consume a special formula known as Lofenalac. A safe amount of phenylalanine differs for each person with PKU and can vary over time. In general, the idea is to consume only the amount of phenylalanine that’s necessary for normal growth and body processes, but no more. Because phenylalanine occurs in practically all-natural proteins, it is impossible to adequately restrict the diet using natural foods alone without compromising health. For this reason, special phenylalanine-free food preparations are helpful. Foods high in protein, such as meat, milk, fish, and cheese are typically not allowed on the diet. Naturally low protein foods such as fruits, vegetables, and some cereals are allowed in limited quantities. People with PKU also need to avoid the sweetener aspartame, which is in some foods, drinks, medications, and vitamins. Aspartame releases phenylalanine when it is digested, so it raises the level of phenylalanine in a person’s blood.

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Key Findings

• The market size of phenylketonuria (PKU) in the 7MM was estimated to be USD 611 million in 2020 and is expected to increase by 2030, at a CAGR of 16.30% for the study period (2018–2030).
• The expected launch of potential therapies may increase market size in the coming years, assisted by an increase in the diagnosed prevalent population of PKU. The market share of Kuvan is expected to decrease in the forecast period after losing its market exclusivity and entry of generics in the market.
• It is estimated that only one therapy is anticipated to get launched in the forecast period, i.e., CNSA-001, which is targeting the overall patient pool. Whereas, therapies, i.e., SYNB1618, and HMI-102, are only for adult PKU patients.
• The United States accounts for the largest market size of PKU in comparison to EU5 and Japan.
• Among the EU5 countries, Germany had the highest market size with USD 57 million in 2020, while Spain had the smallest market size of PKU with USD 17 million in 2020.

The United States Market Outlook

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

EU-5 Market Outlook

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

Phenylketonuria (PKU) Drugs Uptake

This section focuses on the rate of uptake of the potential drugs recently launched in the Phenylketonuria market or expected to get launched in the market during the study period 2018–2030. The analysis covers the PKU 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.

Phenylketonuria (PKU) Development Activities

The report provides insights into different therapeutic candidates in phase II, and phase III stage. 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 PKU emerging therapies.

Reimbursement Scenario in Phenylketonuria (PKU)

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 Phenylketonuria 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 Phenylketonuria, explaining its causes, symptoms, pathophysiology, genetic basis, and currently available therapies.
• Comprehensive insight has been provided into the PKU epidemiology and treatment.
• Additionally, an all-inclusive account of both the current and emerging therapies for Phenylketonuria is provided, along with the assessment of new therapies, which will have an impact on the current treatment landscape.
• A detailed review of the Phenylketonuria 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 Phenylketonuria 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 Phenylketonuria market.
• The companies and academics are working to assess challenges and seek opportunities that could influence Phenylketonuria 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 Phenylketonuria. The launch of emerging therapies will significantly impact the Phenylketonuria 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.

Phenylketonuria (PKU) Report Insights

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

Phenylketonuria (PKU) Report Key Strengths

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

Phenylketonuria (PKU) 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 PKU market share (%) distribution in 2018 and how it would look like in 2030?
• What would be the Phenylketonuria 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 Phenylketonuria market size during the forecast period (2021–2030)?
• At what CAGR, the Phenylketonuria market is expected to grow at the 7MM level during the forecast period (2021–2030)?
• What would be the Phenylketonuria market outlook across the 7MM during the forecast period (2021–2030)?
• What would be the Phenylketonuria 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 Phenylketonuria?
• What is the historical Phenylketonuria patient pool in the United States, EU5 (Germany, France, Italy, Spain, and the UK), and Japan?
• What would be the forecasted patient pool of Phenylketonuria at the 7MM level?
• What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Phenylketonuria?
• Out of the above-mentioned countries, which country would have the highest incident population of Phenylketonuria 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 Phenylketonuria along with the approved therapy?
• What are the current treatment guidelines for the treatment of Phenylketonuria in the US and Europe?
• What are the Phenylketonuria 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 Phenylketonuria?
• How many emerging therapies are in the mid-stage and late stages of development for the treatment of Phenylketonuria?
• What are the key collaborations (Industry–Industry, Industry-Academia), Mergers and acquisitions, licensing activities related to the Phenylketonuria 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 Phenylketonuria and their status?
• What are the key designations that have been granted for the emerging therapies for Phenylketonuria?
• What are the 7MM historical and forecasted market of Phenylketonuria?

Reasons to buy

• The report will help in developing business strategies by understanding trends shaping and driving Phenylketonuria.
• To understand the future market competition in the Phenylketonuria market and Insightful review of the key market drivers and barriers.
• Organize sales and marketing efforts by identifying the best opportunities for Phenylketonuria 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 Phenylketonuria market.
• To understand the future market competition in the Phenylketonuria market.