Top 6 Companies in the Phenylketonuria Treatment Market

The phenylketonuria treatment market was valued at USD 594.56 million in 2023. The market is expected to grow at a CAGR of 10% during the forecast period of 2024-2032. The market is driven by the rising incidence of phenylketonuria and advancements in treatment options across the 8 major markets.

Phenylketonuria is a rare genetic disorder that is triggered by a lack of the enzyme phenylalanine hydroxylase, resulting in an accumulation of phenylalanine in the body. If not addressed, this could lead to delay in development and impairments in cognition. Management includes following a diet low in protein and consistently checking phenylalanine levels. Early detection and proper care are essential to avoid harm to the brain. Possible treatments involve medication and gene therapy which is currently being explored to address the underlying genetic cause of the disease. Even though phenylketonuria can be identified through screenings of newborns, adhering to the diet may pose difficulties. Receiving assistance from medical professionals and advocacy organizations is crucial for managing the intricacies of the illness.

The market is influenced by the increasing occurrence of phenylketonuria. The National Phenylketonuria Alliance reports that by 2024, it is projected that there will be around 13,500 individuals with phenylketonuria in the United States, leading to a growing demand for improved management strategies such as tailored diets and innovative medications. The increasing availability of enzyme replacement therapies and gene therapy is leading to a higher demand for non-dietary treatments, which is in turn broadening the market for specialized medical foods and therapies for individuals with phenylketonuria.

In October 2023, POA Pharma launched phenylketonuria easy microtabs plus in Germany and the Nordic region, marking their entry into the market for inborn metabolic diseases. Continuous efforts in research and development seek to improve treatment options for phenylketonuria and are expected to boost the phenylketonuria treatment market value in the coming years.

Let’s explore the profile of top companies leading the phenylketonuria treatment market in 2024.

1.    BioMarin Pharmaceutical Inc.

BioMarin Pharmaceutical, headquartered in California, creates cutting-edge drugs for rare genetic disorders. Their palynziq product assists adult individuals with phenylketonuria by decreasing blood phenylalanine levels. Palynziq is a man-made enzyme modified with PEG designed to address the root cause of phenylketonuria by breaking down phenylalanine. It is utilized when conventional management methods fail, and blood phenylalanine levels are not regulated.

2.    PTC Therapeutics, Inc.

PTC Therapeutics, Inc. is a US pharmaceutical company focused on the development of orally administered small molecule drugs and gene therapy which regulate gene expression by targeting post-transcriptional control mechanisms in orphan diseases. In October 2024, the company received FDA acceptance for filing a new drug application for sapropterin, aimed at treating phenylketonuria patients by enhancing the activity of the PAH enzyme

3.    Synlogic Inc.

Synlogic is actively involved in the phenylketonuria treatment market through the development of SYNB1618, an investigational oral therapeutic candidate designed to treat phenylketonuria. The company's approach involves a genetically modified bacterium, E. coli Nissle, which functions as a probiotic to break down phenylalanine, the amino acid that accumulates to toxic levels in phenylketonuria patients. By using this dual mechanism of degradation through enzymes phenylalanine ammonia-lyase (PAL) and L-amino acid deaminase (LAAD), the treatment aims to lower phenylalanine levels both from dietary intake and via recycling processes between the gut and the bloodstream.

4.    SOM Innovation Biotech S.A.

SOM Innovation Biotech is a private pharmaceutical company focused on the accelerated discovery and development of therapies for orphan diseases through a proprietary artificial intelligence-based drug discovery technology. The company's investigational candidate SOM1311 is a small molecule pharmacological chaperone of phenylalanine hydroxylase, designed for the treatment of phenylketonuria. The drug shows an improved response rate compared to the current standard of care.

5.    Codexis, Inc.

Codexis, Inc. is a company specializing in protein engineering, creating enzymes for industries such as pharmaceuticals, food, and medical applications. CDX-6114, an enzyme treatment for phenylketonuria, a condition where individuals are unable to metabolize phenylalanine, is one of the key products of this company. The promising results from the Phase 1a trial with healthy volunteers demonstrate its potential for future treatments in the phenylketonuria market, establishing Codexis’s position in enzyme-based therapies.

6.    Homology Medicines, Inc.

Homology Medicines is a genetic medicines company that specializes in rare diseases and aims to treat the underlying cause of the illness. In July 2023, they announced encouraging initial clinical results for their gene editing therapy for classical phenylketonuria. Further, in March 2024, Q32 Bio Inc., a company focused on immune therapies, finalized its merger with Homology Medicines and a simultaneous private investment, creating a new company called Q32 Bio.