Fragile X syndrome has many fascinating aspects:
* the complex inheritance pattern
* its 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 in neurons
*the potential applicability of drugs developed for fragile X for other forms of ASD
Readers interested in neurodevelopment disorders may want to check out this Nature Reviews Drug Discovery piece, which chews over some setbacks in clinical research on fragile X. Emory researchers have a strong connection with the drug strategies used in the recent clinical trials, but have also been working on alternative approaches. An excerpt:
“Animal data — including the finding that mGluR antagonists could correct the phenotypic defects in mouse models of FXS — 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 mention several potential problems with clinical trial design: outcome measures, drug dosing, time frame and a heterogenous patient population.
Perhaps after some reflection and more research, the field will be better prepared to try other strategies when enough preclinical data supports them.
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