FDA approves first treatment for rare disorders in children, adults

The FDA approved Cholbam, a cholic acid, for children and adults with bile acid synthesis disorders and peroxisomal disorders, according to a press release from the FDA.

After the manufacturer was granted a rare pediatric disease priority review voucher, the FDA announced the approval of Cholbam (cholic acid, Asklepion Pharmaceuticals LLC) as an oral treatment for adults and children at least 3 weeks old, according to the release. Patients with either bile acid syntheseis or peroxisomal disorders lack the enzymes needed to synthesize cholic acid, a primary bile acid normally produced in the liver from cholesterol, according to the release, and could develop life-threatening liver injury if untreated.

Philip Rosenthal

“The FDA approval of Cholbam is of vital importance to patients and families who are dealing with bile acid deficiency diseases,” Philip Rosenthal, MD, director of pediatric hepatology at the University of California, San Francisco, said in a press release. “Previously, the patients who rely on this life-saving medicine were only able to receive it through research studies. Making this therapy more widely available is a significant accomplishment of science and collaboration in this rare disease space.”

The approval for Cholbam comes after success in clinical trials that determined the efficacy of cholic acid. For the treatment of bile acid synthesis disorders, 50 patients were treated over an 18-year period. Improvements in baseline liver function tests and weight were evident after treatment. More than half of the patients survived more than 3 years after treatment ended. For the treatment of peroxisomal disorders, 29 patients were treated over 18 years. The majority of patients were younger than 2 years at the start of treatment (range 3 weeks to 10 years). Improvements in baseline liver function tests and weight were also observed in this patient population after treatment and 42% of patients survived more than 3 years, according to the release. The most common adverse event in treated patients was diarrhea.

“This approval underscores the agency’s commitment to making treatments available to patients with rare diseases,” Julie Beitz, MD, director of the office of drug evaluation III in the FDA’s Center for Drug Evaluation and Research, said in the release. “Prior to [the] approval, patients with these rare bile acid synthesis disorders had no approved treatment options.”

The FDA recommends this treatment to be carefully monitored by an experienced hepatologist or pediatric gastroenterologist, and treatment discontinued in patients developing worsening liver function, according to the release.