Invented by Geoffrey Berguig, Rajeev Mahimkar, Hassib Akeefe, Peter Colosi, Biomarin Pharmaceutical Inc

Phenylketonuria (PKU) is a rare genetic disorder that affects the body’s ability to break down an amino acid called phenylalanine. If left untreated, phenylalanine can build up to toxic levels in the blood, leading to severe intellectual disabilities and other health problems. However, with early diagnosis and proper treatment, individuals with PKU can live healthy lives. The market for methods to treat PKU has seen significant advancements in recent years, offering hope to patients and their families. Traditional treatment for PKU involves a strict low-phenylalanine diet, which can be challenging to adhere to and may limit the variety of foods a person can consume. However, advancements in medical research have led to the development of alternative treatment options that are revolutionizing the management of PKU. One of the most promising methods for treating PKU is the use of enzyme replacement therapy (ERT). ERT involves the administration of a synthetic version of the enzyme phenylalanine hydroxylase, which is deficient in individuals with PKU. This enzyme helps to break down phenylalanine, reducing its levels in the blood. ERT has shown great potential in clinical trials, with some patients experiencing a significant reduction in phenylalanine levels and improved cognitive function. Another emerging treatment option for PKU is gene therapy. This innovative approach aims to correct the underlying genetic mutation responsible for PKU. Gene therapy involves introducing a functional copy of the gene into the patient’s cells, allowing them to produce the missing enzyme. While still in the early stages of development, gene therapy holds great promise for the future of PKU treatment. In addition to these novel therapies, there have been advancements in the development of medical foods and supplements specifically designed for individuals with PKU. These products are formulated to be low in phenylalanine while still providing the necessary nutrients for optimal growth and development. They offer a convenient and effective way to manage PKU while maintaining a balanced diet. The market for methods to treat PKU is expanding rapidly, driven by the increasing prevalence of the disorder and the growing demand for more effective treatment options. Pharmaceutical companies, biotech firms, and research institutions are investing heavily in the development of new therapies and technologies to address the unmet needs of PKU patients. However, despite these advancements, challenges remain. The high cost of treatment, limited access to specialized healthcare providers, and the need for lifelong management can pose significant barriers for individuals with PKU. Efforts are being made to address these challenges through advocacy, research, and policy changes to ensure that all individuals with PKU have access to the best possible care. In conclusion, the market for methods to treat PKU has witnessed remarkable progress in recent years. From enzyme replacement therapy to gene therapy and specialized medical foods, there are now more options available than ever before. These advancements offer hope to individuals with PKU and their families, providing the opportunity for a better quality of life and improved health outcomes. As research continues and technology advances, it is expected that the market for PKU treatment will continue to grow, ultimately benefiting the lives of those affected by this rare genetic disorder.

The Biomarin Pharmaceutical Inc invention works as follows

The present invention provides methods for treating phenylketonuria, by normalizing the levels of amino acids and neurotransmitters in a patient with phenylketonuria.

Background for Methods for treating phenylketonuria

4. “4.

5.1.1 Promoter

5.1.2 Regulatory Element

5.1.3 A Protein of Interest

5.1.4 Gene Delivery Methods

5.1.5 Non-Viral Gene Delivery

5.1.6 Viral particles

6. EXAMPLES

6.1 Example 1 Phenylalanine Metabolism and Assay Methodology

6.2 Example 2 – Neurotransmitter levels are consistently lower in Enu2 mouse samples compared to wild-type mouse samples

6.3 Example 3 – Neurotransmitter levels serve as a surrogate marker for identifying an effective dose of a PKU therapeutic

6.4 Example 4 – Correlation between the levels detected in brain and plasma of phenylalanine

6.5 Example 5 – Neurotransmitter and neurotransmitter Metabolites Levels in Plasma from Enu2 and Wild Type Mice

6.7 Example 7 – Marker levels correlate in ENU mice

6.7.1 Amino Acid levels in brain correlate with plasma Phe reduction in ENU mice

6.9 Example 9. Neurotransmitter Metabolites Increased in Subjects With PKU and Reduced Plasma Phe”.

6.10 Example 10 : Correlation between plasma Phe levels and neurotransmitter levels in PKU patients

6.11 Example 11. Inattention score improvements correlate with plasma MOPEG levels in subjects with PKU

6.12 Example 12. Derivatization Plasma or Brain Homogenates

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