Fragile X syndrome has many fascinating aspects:
* the complexÂ inheritance pattern
* itsÂ status as the most common inherited form of intellectual disability and a major single-gene cause of autism spectrum disorder (ASD)
*the importance of the RNA-binding protein FMRP as a regulator of synaptic plasticity inÂ neurons
*the potential applicability of drugs developed for fragile X for other forms of ASD
Readers interested in neurodevelopment disordersÂ may want to check out this Nature Reviews Drug Discovery piece, which chews over someÂ setbacks in clinical research on fragile X. Emory researchers have a strong connection with the drug strategies used in theÂ recent clinical trials, but have also been working on alternativeÂ approaches. An excerpt:
“Animal data â€” including the finding that mGluR antagonists could correct the phenotypic defects in mouse models of FXS â€” were so compelling that they may have driven the community to jump the gun on other considerations. Now, the entire neurodevelopmental field must grapple with how to design better trials and choose better targets for next time.”
The article goes on to mentionÂ several potential problems with clinical trial design: outcome measures, drug dosing, time frame and a heterogenous patient population.
PerhapsÂ after some reflection and more research, the field will be better prepared to try other strategies when enough preclinical data supports them.