BioMarin reports mixed Phase III results for genetic disorder trial-drug Pegvaliase
pharmafile | March 22, 2016 | News story | Manufacturing and Production, Research and Development |
Biotech firm BioMarin Pharmaceutical (Nasdaq: BMRN) reported mixed results for its trial drug to treat genetic disorder phenylketonuria.
Trial drug, Pegvaliase, significantly lowered levels of phenylalanine, or Phe, in the blood of PKU patients by 62% compared to no treatment, achieving the primary endpoint of the eight-week Phase III trials, the company said in a statement. Pegvaliase substitutes the PAH enzyme in PKU by breaking down Phe and is being developed as a potential treatment for adults with inadequately controlled blood Phe levels.
Barbara Burton, investigator for one of the late stage trials, says: “A therapy in development that shows such a substantial reduction in Phe levels could mean that for the first time, PKU patients who cannot comply with dietary protein restriction, can achieve targeted blood Phe levels. This pegvaliase study represents an important advance for PKU adult patients and a potentially meaningful treatment.”
However, pegvaliase was unable to demonstrate a significant improvement in attentiveness or mood in treated PKU patients.
BioMarin intends to submit a marketing application by the end of the year subject to further discussions with the US Food and Drug Administration (FDA).
Shares in the company closed down 3.4% to $78.19 Monday on the Nasdaq.
Phenylketonuria (PKU) or phenylalanine hydroxylase (PAH) deficiency is a genetic disorder affecting about 50,000 people in the developed world and is caused by a deficiency of the enzyme PAH. The enzyme is required for the metabolism of Phe, an essential amino acid found in most protein-containing foods.
If the active enzyme is not present in sufficient quantities, Phe accumulates to abnormally high levels in the blood and becomes toxic to the brain, resulting in a variety of complications including severe intellectual disability, seizures, tremors, behavioral problems and psychiatric symptoms.
PAH deficiency can be managed with a Phe-restricted diet, which is supplemented by low-protein modified foods and Phe-free medical foods; however, the strict diet is difficult for most patients to adhere to the extent needed for achieving adequate control of blood Phe levels.
BioMarin’s Kuvan, in combination with a restrictive diet, lowers Phe to safe levels in about 40% to 50% of patients.
Anjali Shukla
