New Phenylketonuria Treatment Granted Orphan Drug Designation

APR Applied Pharma Research is a small pharmaceutical company in Switzerland concerned with innovations for rare diseases. They have recently been granted the Orphan Drug designation by the FDA, meaning they will receive financial incentives and seven years of market exclusivity. Their new drug delivery technology, APR-OD031, is for the treatment of phenylketonuria (PKU).

About Phenylketonuria (PKU)

One of every 10,000 to 15,000 births are affected by phenylketonuria, a condition that is characterized by an accumulation of the amino acid phenylalanine. This buildup can cause serious health problems.

The symptoms of this condition begin to appear a few months after birth, as it takes some time for the amino acid to build up. When they do appear, effects include seizures, developmental delay, heart defects, fair eyes and skin, hyperactivity, intellectual delays, microcephaly, decreased bone strength, skin rashes, and an odor of the skin, urine, and breath.

A mutation in the gene that produces the enzyme phenylalanine hydroxylase is responsible for PKU. This enzyme is needed to break down the amino acid phenylalanine. Both parents need to pass down the mutated gene in order for a child to be affected.

Early detection is necessary to effectively treat this condition. Once developmental delays occur, they cannot be reversed. The major treatment is dietary changes to avoid ingesting the amino acid phenylalanine. This means avoiding foods that are high in protein, adult formula supplements, and specialized baby formula. Doctors will closely monitor the levels of phenylalanine, and they may administer Kuvan to reduce levels.

About APR-OD031

APR-OD031 is an “extended release amino acid mix” that uses drug delivery technology, which allows for the amino acids to be absorbed. It is the first of its kind to control phenylalanine fluctuations and muscle proteolysis. It aims to lower the amount of catabolic episodes. It is an oral treatment, meant to mask the poor taste and smell of amino acids. Not only does it treat the issues caused by PKU, but it also improves compliance to other amino acid treatments.

APR is excited about this new treatment and the designation that it was granted, as it addresses an unmet need in the medical world and helps to advance their company.

Find the source article here.

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