Market Overview

  • The Global Phenylketonuria Treatment Market is expected to grow at a CAGR of 9.56% during the forecasting period (2020-2027).
  • Phenylketonuria (PKU) is a rare genetic disorder that causes an amino acid called phenylalanine to build up in the body. Phenylalanine is an amino acid (a building block protein), which is obtained from food and diet. It varies from mild to a severe form, classic PKU is considered as most severe, and variant PKU is a less severe form of the disease.


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Market Dynamics

  • The global phenylketonuria (PKU) treatment market is growing due to factors such as the rising prevalence of PKU globally, increasing the development of new drugs for the treatment of phenylketonuria, and rising initiatives to increase awareness towards the treatment phenylketonuria globally.
  • The rising incidences of PKU have resulted in the high demand for its treatment globally. For instance, according to the Genetic Home Reference, 1 in 10,000 to 15,000 cases of PKU occur in newborns in the U.S. In Europe, some countries have a high incidence rate of PKU, such as 1 in every 4500 babies in Ireland and 1 in 4,000 of individuals in Turkey, are suffering from the target disease.
  • Also, rising development and commercialization of new drugs are expected to drive market growth. For instance, In 2018, BioMarin Pharmaceuticals, Inc. launched enzyme therapy drug-Palynziq (penalize), for the treatment of PKU in the U.S. Also, the company received the European Medicines Agency (EMA) approval for the Marketing Authorization Application (MAA) for the same drug in 2018 and launched the drug in May 2019.
  • The increasing number of pipeline drugs, such as RTX-134, SYNB1618, and CNSA-001, are also anticipated to boost the market growth over the forecast period. Synlogic, Inc.’s SYNB1618 drug is undergoing Phase 1/2a clinical trials and also received fast-track designation from FDA. Also, other companies, such as Rubius Therapeutics, Inc., Retrophin, Inc., and Homology Medicines, Inc. are researching to develop novel therapies, such as oral, enzyme therapy, gene therapy.
  • Also, the rising merger, acquisition, and collaboration activities among the major key players are contributing to the growth of the phenylketonuria treatment market. For instance, in January 2018, Retrophin, Inc. entered into a joint agreement with Cena Pharmaceuticals to manufacture CNSA-001. Under this agreement, Cena will perform clinical trial programs for CNSA-001 and after drug development, Retrophin will acquire exclusive rights from Cena.
  • Further, in May 2017, Synlogic, Inc. entered into a merger agreement with Mirna Therapeutics, Inc. The merged company operates under Synlogic name and is engaged in the discovery and development of new drugs for Synthetic Biotic medicines. These medicines are designed using synthetic biology to reprogram microbes genetically to treat inflammatory and metabolic diseases, such as PKU and cancer.


Market Segmentation Analysis

  • By product type, the phenylketonuria treatment market is segmented into drugs and dietary supplements. Based on drugs, the market is further segmented into Kuvan, Palynziq, and others. Kuvan (sapropterin dihydrochloride) is an oral drug manufactured by BioMarin Pharmaceutical, Inc. which was approved in 2007 in the U.S. and 2008 in Europe. Kuvan is an oral pharmaceutical formulation of BH4, the natural cofactor for the PAH enzyme, which stimulates the activity of the residual PAH enzyme to metabolize phenylalanine into tyrosine. Kuvan is to be used in conjunction with a phenylalanine restricted diet. In April 2017, BioMarin Pharmaceutical Inc. entered into a settlement agreement with Par Pharmaceutical that resolves patent litigation in the United States (U.S.) related to BioMarin's Kuvan® (sapropterin dihydrochloride) 100mg oral tablets and powder for oral solution in 100mg packets.
  • On the other hand, in 2018, Palynziq (penalize-pqpz) was approved by the FDA for adults with PKU. Palynziq is an injectable enzyme therapy for patients who have uncontrolled blood phenylalanine concentrations on current treatment. Palynziq is manufactured by BioMarin Pharmaceutical Inc. The drug was approved in 2018 in the U.S. and received the EMA approval for the Marketing Authorization Application (MAA) in May 2019.


Market Geographical Analysis

  • North America is dominating the global phenylketonuria treatment market accounting for the largest market share in 2018, owing to favorable regulations and rising government initiatives for the treatment of PKU. For instance, according to the FDA, in 2018, phenylketonuria affected about 1 in 10,000 to 15,000 people in the U.S. This incidence is greater for Caucasian and Native American populations and less for African American, Hispanic, and Asian populations. In the United States, PKU is usually detected at birth by newborn screening tests and dietary therapy started in consultation with a dietitian and geneticist/metabolism specialist. Also, increasing awareness programs conducted by private and public organizations are fuelling the growth of the market. Some of the organizations conducting such programs are SickKids, Children’s Hospital of Wisconsin, CHOC Children’s, and Boston Children’s Hospital. These programs aim to promote optimal emotional, developmental, and physical health PKU patients.
  • On the other hand, Europe is expected to grow at the fastest CAGR during the forecast period (2020-2027), owing to rising incidences of PKU in this region, and the development of a generic version of Kuvan, and introduction of palynziq drug in this region. According to the Orphanet, it is estimated that 1 in 10,000 newborns in Europe is suffering from PKU. The target disease is highly prevalent in European countries, such as Italy, Ireland, and Turkey. It is estimated that around 1 in 4000 individuals in Turkey were diagnosed with PKU. Also, the availability of reimbursement policies for high-cost treatments of PKU is expected to boost the growth of the market in this region. For instance, Kuvan is currently approved for use and reimbursed in many European countries, such as Germany, Belgium, France, Italy, and Austria.


Market Competitive Trends

  • The phenylketonuria treatment market is competitive with players focusing on the development of new drugs to gain a significant market share. Some of the major players include BioMarin Pharmaceutical Inc., Daiichi Sankyo Company, Limited, SOM Innovation Biotech, S.L., Retrophin, Inc., Censa Pharmaceutical, Inc., Erytech Pharma, Synlogic, Inc., Homology Medicines, Inc., Codexis, Inc., Rubius Therapeutics, Inc., among others.
  • The key players are adopting various growth strategies such as product launches, mergers & acquisitions, partnerships, and collaborations which are contributing to the growth of the phenylketonuria treatment market globally.
  • In July 2019, Synlogic, Inc, a clinical-stage company developing a novel class of Synthetic BioticTM therapeutics, announced positive top-line clinical data from patient cohorts of a randomized, double-blind, placebo-controlled Phase 1/2a study of SYNB1618, which is being developed for the treatment of phenylketonuria (PKU).
  • In March 2019, BioMarin Pharmaceutical Inc. announced that the Committee for Medicinal Products for Human Use (CHMP), the scientific committee of the European Medicines Agency (EMA), has adopted a positive opinion for the company's Marketing Authorization Application (MAA) for Palynziq® (penalize) Injection to reduce blood phenylalanine (Phe) concentrations in patients with phenylketonuria (PKU) aged 16 and older, who have inadequate blood Phe control (blood Phe levels greater than 600 micromol/L) despite prior management with available treatment options.
  • In May 2019, Retrophin, Inc. provided initial funds to the Rare Caregiver Respite Program. The program was launched by the National Organization for Rare Disorders (NORD), which aims to provide various services and financial assistance to the patients.


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