In this episode of Denatured, you’ll hear from Hilary Rosselot, executive director at the National Fragile X Foundation and Jordi Fàbrega, co-founder & CEO at CONNECTA Therapeutics. From trial endpoints and placebo effects to neuroplasticity modulation, we explore what it will take to build a sustainable path to the first approved therapy.

Original title: “Fragile X at a turning point: Breaking through the clinical bottleneck”

cerebellar gaba and executive function among adult female carriers of the fragile x messenger ribonucleoprotein 1 premutation a pilot study to examine neural underpinnings of the clinical phenotype

Original title: “Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype.”

The Centers for Disease Control and Prevention (CDC), as part of its continuing effort to reduce public burden and maximize the utility of government information, invites the general public and other federal agencies the opportunity to comment on a proposed information collection, as required by the Paperwork Reduction Act of 1995. This notice invites comment on a proposed information collection project titled Focus on Advancing Support and Transition with the Fragile X Online Registry With Acce

Original title: “Proposed Data Collection Submitted for Public Comment and Recommendations”

clinical trial designs for rare disorders a scoping review of the effectiveness of pharmacologic interventions in fragile x syndrome

Original title: “Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome.”

autopsy case with fragile x associated tremor ataxia syndrome presenting intranuclear inclusion bodies mainly in the limbic system

Original title: “An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.”