Best Practices in Fragile X Syndrome Treatment Development

• Type of Material: Article
• Authors: Craig A. Erickson, Cincinnati Childrens Hospital Medical Center; Walter Kaufmann, Emory University; Dejan B. Budimirovic, Johns Hopkins Medical School; Ave Lachiewicz, Duke University; Barbara Haas-Givler, Autism & Developmental Medicine Institute; Robert M. Miller, National Fragile X Foundation; Jayne Dixon Weber, National Fragile X Foundation; Leonard Abbeduto, University of California Davis; David Hessl, University of California Davis; Randi J. Hagerman, University of California Davis; Elizabeth Berry-Kravis, Rush University
• Language: English
• Date: 2018-12-01
• Publisher: MDPI
• Publication Version: Final Published Version
• Copyright Statement: © 2018 by the authors.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3390/brainsci8120224
• Title of Journal or Parent Work: Brain Sciences
• ISSN: 2076-3425
• Volume: 8
• Issue: 12
• Grant/Funding Information: This commentary received no external funding.
• Keywords: treatment development; Life Sciences & Biomedicine; Neurosciences; best practices; Neurosciences & Neurology; clinical trials; fragile X syndrome; Science & Technology
• Research Categories: Psychology, Developmental; Biology, Neuroscience; Psychology, Behavioral

Abstract

Preclinical studies using animal models of fragile X syndrome have yielded several agents that rescue a wide variety of phenotypes. However, translation of these treatments to humans with the disorder has not yet been successful, shedding light on a variety of limitations with both animal models and human trial design. As members of the Clinical Trials Committee of the National Fragile X Foundation, we have discussed a variety of recommendations at the level of preclinical development, transition from preclinical to human projects, family involvement, and multi-site trial planning. Our recommendations are made with the vision that effective new treatment will lie at the intersection of innovation, rigorous and reproducible research, and stakeholder involvement.