[Fragile X syndrome: new therapeutic strategies]

Area of Science:

• Neurogenetics
• Developmental Neuroscience
• Pharmacology

Background:

• Fragile X syndrome (FXS) is a leading inherited cause of intellectual disability and autism spectrum disorders.
• Despite advances in understanding molecular pathways, effective disease-modifying therapies for FXS are absent.
• Potential therapeutic targets have been identified based on FXS molecular pathology.

Purpose of the Study:

• To review the progress in developing targeted treatments for Fragile X syndrome.
• To analyze the challenges in translating preclinical findings to clinical applications for FXS.

Main Methods:

• Systematic review of key publications on FXS targeted therapies.
• Indexing and analysis of relevant scientific literature.

Main Results:

• Preclinical studies using targeted interventions in animal models of FXS yield promising outcomes.
• Clinical translation of these targeted therapies has unfortunately resulted in disappointing outcomes.
• Factors such as study design and outcome measures may contribute to the lack of clinical success.

Conclusions:

• Targeted treatments for FXS are crucial and may offer insights for other neurodevelopmental disorders.
• Improved clinical trial design, outcome measures, and centralized patient care are essential for future therapeutic development in FXS.
• Establishing centers of expertise for FXS patient care can facilitate clinical implementation of novel strategies and research.