Summary

The 7 major phenylketonuria markets reached a value of US$ 956.5 Million in 2023. Looking forward, IMARC Group expects the 7MM to reach US$ 4,734.0 Million by 2034, exhibiting a growth rate (CAGR) of 15.65% during 2024-2034.

The phenylketonuria market has been comprehensively analyzed in IMARC's new report titled "Phenylketonuria Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034". Phenylketonuria is a rare hereditary condition that results in an accumulation of the amino acid phenylalanine in the body. It is caused by an alteration in the phenylalanine hydroxylase (PAH) gene, which aids in the production of the enzyme required to metabolize phenylalanine. In infants, the symptoms of this ailment can vary from mild to severe and may include a musty odor in the breath, urine, or skin, an unusually small head size, hyperactivity, irritability, delayed development, seizures, skin rashes, etc. Additionally, in older children and adults, the disease manifests as intellectual disability, learning difficulties, behavioral problems, such as anxiety and depression, tremors, jerky movements, etc. Phenylketonuria is typically diagnosed through newborn screening, a blood workup, and a laboratory study. In addition to this, genetic testing is utilized to identify gene mutations associated with this condition. The healthcare provider may also perform certain diagnostic tests and procedures, such as a triple-quadrupole mass spectrometer, urinalysis, Guthrie card bacterial inhibition assay, etc., to confirm a diagnosis among patients.

The increasing cases of genetic mutations and the inflating demand for effective medications to treat such conditions are primarily driving the phenylketonuria market. Besides this, the widespread adoption of several drug formulations, including sapropterin dihydrochloride and pegvaliase-pqpz, for reducing blood phenylalanine levels in patients is acting as another significant growth-inducing factor. Furthermore, the introduction of novel diagnostic techniques, such as tandem mass spectrometry and high-performance liquid chromatography, which can accurately measure blood phenylalanine levels and differentiate between the disease and other conditions that can cause elevated phenylalanine levels, is also bolstering the market growth. Additionally, several key players are exploring the use of gene therapy to restore phenylalanine hydroxylase activity and prevent neurological as well as cognitive complications associated with the ailment. This, in turn, is further creating a positive outlook for the market. Moreover, the ongoing development of numerous biomarkers, including brain-derived neurotrophic factor (BDNF) and oxidative stress markers, for enhancing the accuracy of diagnosis and monitoring of the disorder is expected to drive the phenylketonuria market in the coming years.

IMARC Group's new report provides an exhaustive analysis of the phenylketonuria market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. According to the report the United States has the largest patient pool for phenylketonuria and also represents the largest market for its treatment. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario and unmet medical needs, etc. have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the phenylketonuria market in any manner.

Time Period of the Study

Base Year: 2023
Historical Period: 2018-2023
Market Forecast: 2024-2034

Countries Covered

United States
Germany
France
United Kingdom
Italy
Spain
Japan

Analysis Covered Across Each Country

Historical, current, and future epidemiology scenario
Historical, current, and future performance of the phenylketonuria market
Historical, current, and future performance of various therapeutic categories in the market
Sales of various drugs across the phenylketonuria market
Reimbursement scenario in the market
In-market and pipeline drugs
Competitive Landscape:
This report also provides a detailed analysis of the current phenylketonuria marketed drugs and late-stage pipeline drugs.

In-Market Drugs

Drug Overview
Mechanism of Action
Regulatory Status
Clinical Trial Results
Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

Drug Overview
Mechanism of Action
Regulatory Status
Clinical Trial Results
Drug Uptake and Market Performance

*Kindly note that the drugs in the above table only represent a partial list of marketed/pipeline drugs, and the complete list has been provided in the report.

Key Questions Answered in this Report:
Market Insights

How has the phenylketonuria market performed so far and how will it perform in the coming years?
What are the markets shares of various therapeutic segments in 2023 and how are they expected to perform till 2034?
What was the country-wise size of the phenylketonuria market across the seven major markets in 2023 and what will it look like in 2034?
What is the growth rate of the phenylketonuria market across the seven major markets and what will be the expected growth over the next ten years?
What are the key unmet needs in the market?

Epidemiology Insights

What is the number of prevalent cases (2018-2034) of phenylketonuria across the seven major markets?
What is the number of prevalent cases (2018-2034) of phenylketonuria by age across the seven major markets?
What is the number of prevalent cases (2018-2034) of phenylketonuria by gender across the seven major markets?
What is the number of prevalent cases (2018-2034) of phenylketonuria by type across the seven major markets?
How many patients are diagnosed (2018-2034) with phenylketonuria across the seven major markets?
What is the size of the phenylketonuria patient pool (2018-2023) across the seven major markets?
What would be the forecasted patient pool (2024-2034) across the seven major markets?
What are the key factors driving the epidemiological trend of phenylketonuria?
What will be the growth rate of patients across the seven major markets?

Phenylketonuria: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

What are the current marketed drugs and what are their market performance?
What are the key pipeline drugs and how are they expected to perform in the coming years?
How safe are the current marketed drugs and what are their efficacies?
How safe are the late-stage pipeline drugs and what are their efficacies?
What are the current treatment guidelines for phenylketonuria drugs across the seven major markets?
Who are the key companies in the market and what are their market shares?
What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the phenylketonuria market?
What are the key regulatory events related to the phenylketonuria market?
What is the structure of clinical trial landscape by status related to the phenylketonuria market?
What is the structure of clinical trial landscape by phase related to the phenylketonuria market?
What is the structure of clinical trial landscape by route of administration related to the phenylketonuria market?`

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Table of Contents

​1 Preface

2 Scope and Methodology
2.1 Objectives of the Study
2.2 Stakeholders
2.3 Data Sources
2.3.1 Primary Sources
2.3.2 Secondary Sources
2.4 Market Estimation
2.4.1 Bottom-Up Approach
2.4.2 Top-Down Approach
2.5 Forecasting Methodology

3 Executive Summary

4 Phenylketonuria - Introduction
4.1 Overview
4.2 Regulatory Process
4.3 Epidemiology (2018-2023) and Forecast (2024-2034)
4.4 Market Overview (2018-2023) and Forecast (2024-2034)
4.5 Competitive Intelligence

5 Phenylketonuria - Disease Overview
5.1 Introduction
5.2 Symptoms and Diagnosis
5.3 Pathophysiology
5.4 Causes and Risk Factors
5.5 Treatment

6 Patient Journey

7 Phenylketonuria - Epidemiology and Patient Population
7.1 Epidemiology - Key Insights
7.2 Epidemiology Scenario - Top 7 Markets
7.2.1 Epidemiology Scenario (2018-2023)
7.2.2 Epidemiology Forecast (2024-2034)
7.2.3 Epidemiology by Age (2018-2034)
7.2.4 Epidemiology by Gender (2018-2034)
7.2.5 Epidemiology by Type (2018-2034)
7.2.6 Diagnosed Cases (2018-2034)
7.2.7 Patient Pool/Treated Cases (2018-2034)
7.3 Epidemiology Scenario - United States
7.3.1 Epidemiology Scenario (2018-2023)
7.3.2 Epidemiology Forecast (2024-2034)
7.3.3 Epidemiology by Age (2018-2034)
7.3.4 Epidemiology by Gender (2018-2034)
7.3.5 Epidemiology by Type (2018-2034)
7.3.6 Diagnosed Cases (2018-2034)
7.3.7 Patient Pool/Treated Cases (2018-2034)
7.4 Epidemiology Scenario - Germany
7.4.1 Epidemiology Scenario (2018-2023)
7.4.2 Epidemiology Forecast (2024-2034)
7.4.3 Epidemiology by Age (2018-2034)
7.4.4 Epidemiology by Gender (2018-2034)
7.4.5 Epidemiology by Type (2018-2034)
7.4.6 Diagnosed Cases (2018-2034)
7.4.7 Patient Pool/Treated Cases (2018-2034)
7.5 Epidemiology Scenario - France
7.5.1 Epidemiology Scenario (2018-2023)
7.5.2 Epidemiology Forecast (2024-2034)
7.5.3 Epidemiology by Age (2018-2034)
7.5.4 Epidemiology by Gender (2018-2034)
7.5.5 Epidemiology by Type (2018-2034)
7.5.6 Diagnosed Cases (2018-2034)
7.5.7 Patient Pool/Treated Cases (2018-2034)
7.6 Epidemiology Scenario - United Kingdom
7.6.1 Epidemiology Scenario (2018-2023)
7.6.2 Epidemiology Forecast (2024-2034)
7.6.3 Epidemiology by Age (2018-2034)
7.6.4 Epidemiology by Gender (2018-2034)
7.6.5 Epidemiology by Type (2018-2034)
7.6.6 Diagnosed Cases (2018-2034)
7.6.7 Patient Pool/Treated Cases (2018-2034)
7.7 Epidemiology Scenario - Italy
7.7.1 Epidemiology Scenario (2018-2023)
7.7.2 Epidemiology Forecast (2024-2034)
7.7.3 Epidemiology by Age (2018-2034)
7.7.4 Epidemiology by Gender (2018-2034)
7.7.5 Epidemiology by Type (2018-2034)
7.7.6 Diagnosed Cases (2018-2034)
7.7.7 Patient Pool/Treated Cases (2018-2034)
7.8 Epidemiology Scenario - Spain
7.8.1 Epidemiology Scenario (2018-2023)
7.8.2 Epidemiology Forecast (2024-2034)
7.8.3 Epidemiology by Age (2018-2034)
7.8.4 Epidemiology by Gender (2018-2034)
7.8.5 Epidemiology by Type (2018-2034)
7.8.6 Diagnosed Cases (2018-2034)
7.8.7 Patient Pool/Treated Cases (2018-2034)
7.9 Epidemiology Scenario - Japan
7.9.1 Epidemiology Scenario (2018-2023)
7.9.2 Epidemiology Forecast (2024-2034)
7.9.3 Epidemiology by Age (2018-2034)
7.9.4 Epidemiology by Gender (2018-2034)
7.9.5 Epidemiology by Type (2018-2034)
7.9.6 Diagnosed Cases (2018-2034)
7.9.7 Patient Pool/Treated Cases (2018-2034)

8 Phenylketonuria - Treatment Algorithm, Guidelines, and Medical Practices
8.1 Guidelines, Management and Treatment
8.2 Treatment Algorithm

9 Phenylketonuria - Unmet Needs

10 Phenylketonuria - Key Endpoints of Treatment

11 Phenylketonuria - Marketed Products
11.1 List of Phenylketonuria Marketed Drugs Across the Top 7 Markets
11.1.1 Palynziq (Pegvaliase) - BioMarin Pharmaceutical
11.1.1.1 Drug Overview
11.1.1.2 Mechanism of Action
11.1.1.3 Regulatory Status
11.1.1.4 Clinical Trial Results
11.1.1.5 Sales Across Major Markets
11.1.2 Kuvan (Sapropterin) - Asubio-Pharma/BioMarin-Pharmaceutical/Daiichi-Sankyo
11.1.2.1 Drug Overview
11.1.2.2 Mechanism of Action
11.1.2.3 Regulatory Status
11.1.2.4 Clinical Trial Results
11.1.2.5 Sales Across Major Markets

Kindly note that the above only represents a partial list of marketed drugs, and the complete list has been provided in the report.

12 Phenylketonuria - Pipeline Drugs
12.1 List of Phenylketonuria Pipeline Drugs Across the Top 7 Markets
12.1.1 SYNB 1934 - Synlogic
12.1.1.1 Drug Overview
12.1.1.2 Mechanism of Action
12.1.1.3 Clinical Trial Results
12.1.1.4 Safety and Efficacy
12.1.1.5 Regulatory Status
12.1.2 PTC923 - PTC Therapeutics
12.1.2.1 Drug Overview
12.1.2.2 Mechanism of Action
12.1.2.3 Clinical Trial Results
12.1.2.4 Safety and Efficacy
12.1.2.5 Regulatory Status
12.1.3 JNT 517 - Jnana Therapeutics
12.1.3.1 Drug Overview
12.1.3.2 Mechanism of Action
12.1.3.3 Clinical Trial Results
12.1.3.4 Safety and Efficacy
12.1.3.5 Regulatory Status
12.1.4 HMI 103 - Homology medicines
12.1.4.1 Drug Overview
12.1.4.2 Mechanism of Action
12.1.4.3 Clinical Trial Results
12.1.4.4 Safety and Efficacy
12.1.4.5 Regulatory Status

Kindly note that the above only represents a partial list of pipeline drugs, and the complete list has been provided in the report.

13. Phenylketonuria - Attribute Analysis of Key Marketed and Pipeline Drugs

14. Phenylketonuria – Clinical Trial Landscape
14.1 Drugs by Status
14.2 Drugs by Phase
14.3 Drugs by Route of Administration
14.4 Key Regulatory Events

15 Phenylketonuria - Market Scenario
15.1 Market Scenario - Key Insights
15.2 Market Scenario - Top 7 Markets
15.2.1 Phenylketonuria - Market Size
15.2.1.1 Market Size (2018-2023)
15.2.1.2 Market Forecast (2024-2034)
15.2.2 Phenylketonuria - Market Size by Therapies
15.2.2.1 Market Size by Therapies (2018-2023)
15.2.2.2 Market Forecast by Therapies (2024-2034)
15.3 Market Scenario - United States
15.3.1 Phenylketonuria - Market Size
15.3.1.1 Market Size (2018-2023)
15.3.1.2 Market Forecast (2024-2034)
15.3.2 Phenylketonuria - Market Size by Therapies
15.3.2.1 Market Size by Therapies (2018-2023)
15.3.2.2 Market Forecast by Therapies (2024-2034)
15.3.3 Phenylketonuria - Access and Reimbursement Overview
15.4 Market Scenario - Germany
15.4.1 Phenylketonuria - Market Size
15.4.1.1 Market Size (2018-2023)
15.4.1.2 Market Forecast (2024-2034)
15.4.2 Phenylketonuria - Market Size by Therapies
15.4.2.1 Market Size by Therapies (2018-2023)
15.4.2.2 Market Forecast by Therapies (2024-2034)
15.4.3 Phenylketonuria - Access and Reimbursement Overview
15.5 Market Scenario - France
15.5.1 Phenylketonuria - Market Size
15.5.1.1 Market Size (2018-2023)
15.5.1.2 Market Forecast (2024-2034)
15.5.2 Phenylketonuria - Market Size by Therapies
15.5.2.1 Market Size by Therapies (2018-2023)
15.5.2.2 Market Forecast by Therapies (2024-2034)
15.5.3 Phenylketonuria - Access and Reimbursement Overview
15.6 Market Scenario - United Kingdom
15.6.1 Phenylketonuria - Market Size
15.6.1.1 Market Size (2018-2023)
15.6.1.2 Market Forecast (2024-2034)
15.6.2 Phenylketonuria - Market Size by Therapies
15.6.2.1 Market Size by Therapies (2018-2023)
15.6.2.2 Market Forecast by Therapies (2024-2034)
15.6.3 Phenylketonuria - Access and Reimbursement Overview
15.7 Market Scenario - Italy
15.7.1 Phenylketonuria - Market Size
15.7.1.1 Market Size (2018-2023)
15.7.1.2 Market Forecast (2024-2034)
15.7.2 Phenylketonuria - Market Size by Therapies
15.7.2.1 Market Size by Therapies (2018-2023)
15.7.2.2 Market Forecast by Therapies (2024-2034)
15.7.3 Phenylketonuria - Access and Reimbursement Overview
15.8 Market Scenario - Spain
15.8.1 Phenylketonuria - Market Size
15.8.1.1 Market Size (2018-2023)
15.8.1.2 Market Forecast (2024-2034)
15.8.2 Phenylketonuria - Market Size by Therapies
15.8.2.1 Market Size by Therapies (2018-2023)
15.8.2.2 Market Forecast by Therapies (2024-2034)
15.8.3 Phenylketonuria - Access and Reimbursement Overview
15.9 Market Scenario - Japan
15.9.1 Phenylketonuria - Market Size
15.9.1.1 Market Size (2018-2023)
15.9.1.2 Market Forecast (2024-2034)
15.9.2 Phenylketonuria - Market Size by Therapies
15.9.2.1 Market Size by Therapies (2018-2023)
15.9.2.2 Market Forecast by Therapies (2024-2034)
15.9.3 Phenylketonuria - Access and Reimbursement Overview

16 Phenylketonuria - Recent Events and Inputs From Key Opinion Leaders

17 Phenylketonuria Market - SWOT Analysis
17.1 Strengths
17.2 Weaknesses
17.3 Opportunities
17.4 Threats

18 Phenylketonuria Market – Strategic Recommendations

19 Appendix