Experimental Gene Therapy Earns Orphan Drug Designation for Phenylketonuria

According to a story from einnews.com, the cell therapeutics company American Gene Technologies (AGT) has recently announced that the US Food and Drug Administration (FDA) has granted Orphan Drug designation to the company’s proprietary lentiviral vector based gene therapy as a treatment for phenylketonuria. If the therapy is developed successfully, it has the potential to offer a complete cure for this genetic disorder.

About Phenylketonuria

Phenylketonuria (PKU) is a metabolic disorder which results in a reduced ability to metabolize phenylalanine, an amino acid. Without treatment, the condition can result in serious and debilitating problems. The disorder is linked to mutations of the PAH gene. When treated promptly, people with phenylketonuria can live fairly normal lives, but without treatment symptoms such as microcephaly, mental disorders, intellectual disability, behavioral abnormalities, pale skin, seizures, heart problems, and a distinctive musty body odor. Many countries routinely screen newborns for the disorder so that intervention can begin promptly if it is detected. Treatment typically includes a diet that is low in phenylalanine, which restricts protein intake. The diet is often supplemented with special formulations so patients can get the other nutrients they need that would typically be lost in a low protein diet. Once the patient reaches a certain age, which varies by case, it is usually safe to eventually go off the diet. To learn more about phenylketonuria, click here.

About Orphan Drug Designation

Orphan Drug designation is typically reserved for experimental therapies that are intended to treat a disease that is considered rare. This is defined as any disease that affects less than 200,000 people annually in the US. To be eligible, a therapy must demonstrate possible advantages in effectiveness or safety over current treatments, or must fulfill a currently unmet medical need. This designation confers several benefits to the recipient company, such as the waiving of certain fees, tax breaks, and a market exclusivity period of seven years if the drug gains approval successfully from the FDA.

AGT’s unique, innovative lentiviral vector technology has the potential to be useful in a number of medical applications, such as monogenic disorders, rare diseases, and infections. Future testing in clinical trials will hopefully demonstrate its effectiveness.


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