FDA Issues Advice on Replacement or Corrective Therapies for Certain Rare Diseases

July 27, 2018

The FDA published a draft guidance recommending ways to demonstrate if new drugs or drug uses are effective for certain low-prevalence rare diseases caused by single enzyme defects.

The guidance applies to diseases that have well-characterized pathophysiology and whose changes in substrate deposition can be effectively measured in the affected tissues; it does not apply to rare diseases that progress rapidly.

“There are many reasons that make demonstration of effectiveness extremely challenging for drugs intended to treat slowly progressive, low-prevalence rare diseases that result from defects in a single enzyme,” the agency said.

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