On October 15, 2018, FDA issued draft guidance on Rare Diseases: Early Drug Development and the Role of Pre-IND Meetings. This draft guidance is intended to assist sponsors of drug and biological products for the treatment of rare diseases in early development and in the planning of and participation in formal pre-investigational new drug application (pre-IND) meetings with FDA. FDCA defines a rare disease as a disease or condition that affects fewer than 200,000 people in the United States. The guidance outlines regulatory, scientific, and other additional issues that FDA considers in being flexible to accommodate the unique challenges of rare disease drug development (such as limited number of available patients and lack of development precedent.)

In evaluating clinical evidence to establish safety and efficacy in the rare disease setting, the guidance reserves the broadest possible scientific judgment. FDA would consider: (1) benefits and risks of the drug; (2) seriousness of the disease; and (3) whether an unmet medical need exists. The guidance recognizes that patients and physicians are generally willing to accept greater risks and side effects from treatment of life-threatening and severely debilitating diseases.

The guidance flexibly evaluates nonclinical studies and sufficiency of data to assess whether clinical trials can be reasonably safe. An abbreviated or deferred program can be available in some cases. Animal models may contribute as well. Information related to clinical pharmacology also helps FDA in flexibly determining which clinical pharmacology studies are essential, whether those studies can be integrated with other clinical trials, and which studies can be deferred.

The guidance encourages sponsors to discuss with FDA on pediatric study plans, expedited programs for serious conditions, and orphan drug product incentives. Study plans for a companion diagnostic co-development are also recommended.

Readers are encouraged to read the draft guidance, also available on FDA’s website.