FDA approves drug to treat rare bile acid synthesis disorders in kids, adults

FDA approved its first treatment for pediatric and adult patients with bile acid synthesis disorders due to single enzyme defects, and for patients with peroxisomal disorders (including Zellweger spectrum disorders).

Cholic acid (Cholbam, Asklepion Pharmaceuticals LLC) capsules, an oral treatment for children aged 3 weeks and older and adults, is the first FDA-approved treatment for patients with these rare, genetic, metabolic conditions exhibit manifestations of liver disease, steatorrhea (presence of fat in the stool) and complications from decreased fat-soluble vitamin absorption.

Related: First therapy for pediatric high-risk neuroblastoma approved by FDA

Asklepion was granted a rare pediatric disease priority review voucher, a provision that encourages development of new drugs and biologics for the prevention and treatment of rare pediatric diseases.“This approval underscores the agency’s commitment to making treatments available to patients with rare diseases,” said Julie Beitz, MD, director of the Office of Drug Evaluation III in the FDA’s Center for Drug Evaluation and Research (CDER). “Prior to today’s approval, patients with these rare bile acid synthesis disorders had no approved treatment options.”

The efficacy of Cholbam for the treatment of patients with bile acid synthesis disorders due to single enzyme defects was assessed in an uncontrolled trial involving 50 patients treated over an 18-year period. An extension trial followed 21 of these patients and enrolled an additional 12 patients with interim efficacy data available for an additional 21 months. On average, patients were 4 years of age at the start of cholic acid treatment (range 3 weeks to 36 years).

Response to treatment was evaluated by improvements in baseline liver function tests and weight. Responses were noted in 64 percent of patients with evaluable data and two-thirds of patients survived greater than three years. Literature reports also supported the efficacy of Cholbam in this population.

The efficacy of Cholbam for the treatment of peroxisomal disorders, including Zellweger spectrum disorders, was assessed in an uncontrolled, treatment trial involving 29 patients treated over an 18-year period. An extension trial followed 10 of these patients and enrolled an additional two patients with interim efficacy data available for 21 additional months. The majority of patients were less than 2 years of age at the start of cholic acid treatment (range 3 weeks to 10 years).

Response to treatment was evaluated by improvements in baseline liver function tests and weight. Responses were noted in 46 percent of patients with evaluable data. Forty-two percent of patients survived greater than 3 years. 

The most common side effect in patients treated with Cholbam was diarrhea. The use of Cholbam should be carefully monitored by an experienced hepatologist or pediatric gastroenterologist, and treatment discontinued in patients developing worsening liver function, according to FDA.

Read next: More FDA drug approvals