Slowly progressive, low-prevalence rare diseases with substrate deposition that result from single enzyme defects: providing evidence of effectiveness for replacement or corrective therapies

Slowly progressive, low-prevalence rare diseases with substrate deposition that result from single enzyme defects: providing evidence of effectiveness for replacement or corrective therapies

Collection:
Health Policy and Services Research
Series Title(s):
Guidance for industry
Contributor(s):
United States. Department of Health and Human Services, issuing body.
United States. Food and Drug Administration, issuing body.
Center for Biologics Evaluation and Research (U.S.), issuing body.
Center for Drug Evaluation and Research (U.S.), issuing body.
Publication:
Silver Spring, MD : Center for Drug Evaluation and Research, March 2020
Language(s):
English
Format:
Text
Subject(s):
Drug Development -- standards
Drugs, Investigational
Rare Diseases -- drug therapy
Metabolism, Inborn Errors -- drug therapy
United States
United States. Department of Health and Human Services
United States. Food and Drug Administration
Genre(s):
Technical Report
Abstract:
This document provides guidance to sponsors on the evidence necessary to demonstrate the effectiveness of investigational new drugs or new drug uses intended for slowly progressive, low-prevalence rare diseases that are associated with substrate deposition and are caused by single enzyme defects. This guidance applies only to those low-prevalence rare diseases with well-characterized pathophysiology, and in which changes in substrate deposition can be readily measured in relevant tissue or tissues. This guidance does not apply to products intended for low-prevalence rare diseases with rapidly progressive clinical courses--such conditions can be evaluated by traditional approaches (i.e., using clinical endpoints such as survival, preservation of function, etc.)--or low-prevalence rare diseases with previously characterized endpoints predictive of clinical benefit (e.g., normalization of phenylalanine levels for phenylketonuria patients). FDA encourages sponsors to discuss with the relevant review divisions whether the approach outlined in this guidance applies to their specific drug development programs.
Copyright:
The National Library of Medicine believes this item to be in the public domain. (More information)
Extent:
1 online resource (1 PDF file (9 pages)).
NLM Unique ID:
101772671 (See catalog record)
Permanent Link:
http://resource.nlm.nih.gov/101772671