Phenylketonuria Pipeline Insight

DelveInsight’s, “Phenylketonuria - Pipeline Insight, 2025” report provides comprehensive insights about 20+ companies and 22+ pipeline drugs in Phenylketonuria pipeline landscape. It covers the pipeline drug profiles, including clinical and nonclinical stage products. It also covers the therapeutics assessment by product type, stage, route of administration, and molecule type. It further highlights the inactive pipeline products in this space.

 

Geography Covered

• Global coverage

 

Phenylketonuria: Understanding

Phenylketonuria: Overview

Phenylketonuria (PKU) is a rare inherited metabolic disorder caused primarily by mutations in the PAH gene, which lead to a deficiency or complete absence of the enzyme phenylalanine hydroxylase (PAH). This enzyme is essential for converting the amino acid phenylalanine into tyrosine, and without it, phenylalanine accumulates to toxic levels in the body, particularly affecting the brain. PKU is inherited in an autosomal recessive manner, meaning a child must inherit the defective gene from both parents to be affected. In rare cases, mutations affecting the cofactor tetrahydrobiopterin (BH4) or the DNAJC12 gene can also disrupt phenylalanine metabolism, resulting in related disorders. Newborns with PKU typically appear healthy at birth but, if left untreated, will begin to show signs such as intellectual disability, developmental delay, seizures, and behavioral issues within the first few months. Additional symptoms include hypopigmentation, a musty body odor, eczema, and in some cases, movement disorders. Adults with poorly managed PKU may suffer from cognitive decline, mood disorders, and challenges in social functioning. Early diagnosis through newborn screening and strict dietary management can prevent most severe complications, though symptom severity varies depending on the level of enzyme deficiency.

Phenylketonuria (PKU) is primarily diagnosed through newborn screening, which involves testing a blood sample taken via heel prick within the first days of life. Tandem mass spectrometry (MS/MS) is used to detect elevated phenylalanine levels and an increased phenylalanine to tyrosine ratio, both of which strongly suggest PKU. A phenylalanine concentration above 120 μmol/L and a ratio greater than 3 are key indicators requiring confirmatory testing. Further evaluation includes plasma amino acid analysis to verify persistently high phenylalanine levels, typically above 130 μmol/L. Genetic testing is then conducted to identify mutations in the PAH gene, using techniques such as multiplex minisequencing or Sanger sequencing. Additional tests may be needed to rule out other causes of hyperphenylalaninemia, including BH4 metabolism defects or mutations in the DNAJC12 gene. A BH4 loading test can help determine whether the patient has BH4-responsive PKU by assessing phenylalanine reduction following sapropterin administration.

Treatment of Phenylketonuria (PKU) treatment involves a lifelong strict diet low in phenylalanine, which requires avoiding high-protein foods such as meat, dairy, eggs, nuts, and soy. This diet is supported by phenylalanine-free medical formulas that supply the necessary protein and nutrients for healthy growth and development. Regular monitoring of blood phenylalanine levels is essential to adjust dietary intake, especially during critical periods like childhood and pregnancy. For patients responsive to tetrahydrobiopterin (BH4), sapropterin dihydrochloride can help increase phenylalanine tolerance and potentially ease dietary restrictions. Pegvaliase (Palynziq), an enzyme substitution therapy, is an option for adults with poorly controlled PKU, though it requires close medical supervision due to potential severe side effects. While research into gene therapy and other novel treatments continues, dietary management remains the foundation of effective PKU care to prevent neurological damage and support normal development.

 

"Phenylketonuria- Pipeline Insight, 2025" report by DelveInsight outlays comprehensive insights of present scenario and growth prospects across the indication. A detailed picture of the Phenylketonuria pipeline landscape is provided which includes the disease overview and Phenylketonuria treatment guidelines. The assessment part of the report embraces, in depth Phenylketonuria commercial assessment and clinical assessment of the pipeline products under development. In the report, detailed description of the drug is given which includes mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Phenylketonuria collaborations, licensing, mergers and acquisition, funding, designations and other product related details.

 

Report Highlights

• 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 Phenylketonuria.

 

Phenylketonuria Emerging Drugs Chapters

This segment of the Phenylketonuria report encloses its detailed analysis of various drugs in different stages of clinical development, including Phase III, II, I, Preclinical and Discovery. It also helps to understand clinical trial details, expressive pharmacological action, agreements and collaborations, and the latest news and press releases.

 

Phenylketonuria Emerging Drugs

• JNT-517: Otsuka Pharmaceutical

JNT-517 is an oral, selective small molecule inhibitor targeting the Phe transporter SLC6A19, offering a novel therapeutic approach for the treatment of phenylketonuria (PKU). It acts at a unique, cryptic allosteric site to block the kidney reabsorption of phenylalanine (Phe), helping to lower elevated blood Phe levels. By targeting a key mechanism of Phe transport, JNT-517 has the potential to benefit individuals with PKU regardless of age or genetic profile. Its oral formulation makes it a convenient option for long-term management. Currently, the drug is in Phase III stage of its clinical trial for treatment of Phenylketonuria (PKU).

 

• RLF OD032: Relief Therapeutics Holding

RLF-OD032 is an innovative, highly concentrated liquid formulation of sapropterin dihydrochloride developed for oral use. It is intended for the treatment of phenylketonuria (PKU) in both adult and pediatric patients. The product is being submitted for US regulatory approval through the 505(b) (2) NDA pathway, supported by bioequivalence to a reference listed drug. If approved, RLF-OD032 would be the first and only ready-to-use, portable liquid sapropterin therapy. This unique formulation aims to improve PKU management by enhancing treatment adherence and patient quality of life. Currently, the drug is in Phase II stage of its clinical trial for treatment of Phenylketonuria (PKU).

 

• NGGT 002: Next Generation Gene Therapeutics

NGGT002 is an investigational gene therapy being developed by Next Generation Gene Therapeutics for the treatment of Phenylketonuria (PKU). NGGT002 has already demonstrated promising results in a completed proof-of-concept Investigator-Initiated Trial (IIT) in humans. The therapy is designed to address the underlying genetic cause of PKU by restoring normal metabolic function. Currently, the drug is being evaluated in Phase I/II stage of its clinical trial for treatment of Phenylketonuria (PKU).

Further product details are provided in the report……..

 

Phenylketonuria: Therapeutic Assessment

This segment of the report provides insights about the different Phenylketonuria drugs segregated based on following parameters that define the scope of the report, such as:

 

Major  Players in Phenylketonuria

• There are approx. 20+ key companies which are developing the therapies for Phenylketonuria. The companies which have their Phenylketonuria drug candidates in the most advanced stage, i.e. Phase III include, Otsuka Pharmaceutical.

 

Phases

DelveInsight’s report covers around 22+ products under different phases of clinical development like

• Late stage products (Phase III)
• Mid-stage products (Phase II)
• Early-stage product (Phase I) along with the details of
• Pre-clinical and Discovery stage candidates
• Discontinued & Inactive candidates

 

Route of Administration

Phenylketonuria pipeline report provides the therapeutic assessment of the pipeline drugs by the Route of Administration. Products have been categorized under various ROAs such as

• Oral
• Intravenous
• Subcutaneous
• Parenteral
• Topical

 

Molecule Type

Products have been categorized under various Molecule types such as

• Recombinant fusion proteins
• Small molecule
• Monoclonal antibody
• Peptide
• Polymer
• Gene therapy

 

Product Type

Drugs have been categorized under various product types like Mono, Combination and Mono/Combination.

 

Phenylketonuria: Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III, II, I, preclinical and discovery stage. It also analyses Phenylketonuria therapeutic drugs key players involved in developing key drugs.

 

Pipeline Development Activities

The report covers the detailed information of collaborations, acquisition and merger, licensing along with a thorough therapeutic assessment of emerging Phenylketonuria drugs.

 

Phenylketonuria Report Insights

• Phenylketonuria Pipeline Analysis
• Therapeutic Assessment
• Unmet Needs
• Impact of Drugs

 

Phenylketonuria Report Assessment

• Pipeline Product Profiles
• Therapeutic Assessment
• Pipeline Assessment
• Inactive drugs assessment
• Unmet Needs

 

Key Questions

Current Treatment Scenario and Emerging Therapies:

• How many companies are developing Phenylketonuria drugs?
• How many Phenylketonuria drugs are developed by each company?
• How many emerging drugs are in mid-stage, and late-stage 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 therapeutics?
• What are the recent trends, drug types and novel 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 to the emerging drugs?