Editing Fragile X syndrome (section)

== Pharmacological therapy ==
Fragile X syndrome is the most "translated" human neurodevelopmental disorder under study. Hence, research into the etiology of FXS has given rise to many attempts at drug discovery.<ref>{{cite journal | vauthors = Duy PQ, Budimirovic DB | title = Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials | journal = Translational Neuroscience | volume = 8 | issue = 1 | pages = 7–8 | date = January 2017 | pmid = 28400977 | pmc = 5382936 | doi = 10.1515/tnsci-2017-0002 }}</ref> The increased understanding of the molecular mechanisms of disease in FXS has led to the development of therapies targeting the affected pathways. Evidence from mouse models shows that mGluR5 [[Receptor antagonist|antagonists]] (blockers) can rescue dendritic spine abnormalities and seizures, as well as cognitive and behavioral problems, and may show promise in the treatment of FXS.<ref name=McLennan/><ref>{{cite journal | vauthors = Dölen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, Bear MF | title = Correction of fragile X syndrome in mice | journal = Neuron | volume = 56 | issue = 6 | pages = 955–962 | date = December 2007 | pmid = 18093519 | pmc = 2199268 | doi = 10.1016/j.neuron.2007.12.001 }}</ref><ref name="pmid20303363">{{cite journal | vauthors = Dölen G, Carpenter RL, Ocain TD, Bear MF | title = Mechanism-based approaches to treating fragile X | journal = Pharmacology & Therapeutics | volume = 127 | issue = 1 | pages = 78–93 | date = July 2010 | pmid = 20303363 | doi = 10.1016/j.pharmthera.2010.02.008 }}</ref> Two new drugs, AFQ-056 ([[mavoglurant]]) and [[dipraglurant]], as well as the repurposed drug [[fenobam]] are currently undergoing human trials for the treatment of FXS.<ref name=McLennan/><ref name=Cole>{{cite journal | vauthors = Cole P | title = Mavoglurant | journal = Drugs of the Future | year = 2012 | volume = 37 | issue = 1 | pages = 7–12 | doi = 10.1358/dof.2012.037.01.1772147| s2cid = 258330291 }}</ref> There is also early evidence for the efficacy of [[arbaclofen]], a GABA<sub>B</sub> agonist, in improving social withdrawal in individuals with FXS and ASD.<ref name=McLennan/><ref name=Bud>{{cite journal |author1=Budimirovic DB  |author2=Kaufmann WE | title = What can we learn about autism from studying fragile X syndrome? | journal = Developmental Neuroscience | volume = 33 | issue = 5 | pages = 379–394 | year = 2011 | pmid = 21893949 | pmc = 3254037 | doi = 10.1159/000330213 }}</ref> In addition, there is evidence from mouse models that [[minocycline]], an antibiotic used for the treatment of [[acne]], rescues abnormalities of the dendrites. An open trial in humans has shown promising results, although there is currently no evidence from [[Randomized controlled trial|controlled trials]] to support its use.<ref name=McLennan/>
{{Further|topic=the investigational new drug|Zatolmilast}}