Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials

Phan Q Duy; Dejan B Budimirovic

doi:10.1515/tnsci-2017-0002

Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials

Transl Neurosci. 2017 Mar 11:8:7-8. doi: 10.1515/tnsci-2017-0002. eCollection 2017 Jan.

Authors

Phan Q Duy¹, Dejan B Budimirovic²

Affiliations

¹ Department of Biology Johns Hopkins University Baltimore, MD 21218, USA.
² Clinical Research Center, Clinical Trials Unit & Fragile X Clinic, Kennedy Krieger Institute, Johns Hopkins Medical Institutions Baltimore, MD 21205, USA.

Abstract

Fragile X syndrome (FXS) is the leading genetic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID) worldwide. Preclinical successes in understanding the biology of FXS have led to numerous translational attempts in human clinical trials of therapeutics that target the excitatory/inhibitory neural signaling imbalances thought to underlie FXS. Despite the preclinical success story, the negative results of the human clinical trials have been deemed to be at least in part disappointing by the field. In this commentary, we contend that such negative studies results in clinical trials may actually propel the FXS field forward by serving as important lessons for designing and implementing improved future clinical trials such that can objectively assess the full range of responses to new therapeutics.

Keywords: Autism spectrum disorder; Clinical trial; Fragile X syndrome; Translational research.