BioMarin drug for genetic disorder succeeds in late-stage study

BioMarin Pharmaceutical Inc said preliminary data showed its drug for a genetic disorder characterized by impaired metabolism of an amino acid, which results in cognitive and psychiatric problems, succeeded in a late-stage study.

The drug, pegvaliase, reduced the levels of the amino acid phenylalanine in patients with deficiency of an enzyme required to metabolize phenylalanine, the company said on Monday.

The drug is being tested against a placebo in patients with phenylalanine hydroxylase (PAH) deficiency, a disorder diagnosed in about 50,000 patients in the developed world.

A deficiency of PAH results in toxic accumulation of phenylalanine, found in most protein-containing foods, in the blood, causing complications including severe intellectual disability, behavioral problems and psychiatric symptoms.

Data showed BioMarin’s drug improved blood phenylalanine levels by about 62 percent compared with a placebo, the company said.

BioMarin expects to submit a marketing application for the drug later this year, subject to further discussions with the U.S. Food and Drug Administration, the company said.

(Reporting by Natalie Grover in Bengaluru; Editing by Kirti Pandey)

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