Emerging treatments

Deep brain stimulation (DBS)

In DBS, high-frequency electrical stimulation is applied via an electrode to specific brain areas, where it inhibits neuronal activity in overactive regions. To date, several Lesch-Nyhan disease (LND) patients who have received DBS, targeted at the globus pallidus pars interna, have been reported in the literature.[55][56][57][58][59][60][61][62]Some showed remarkable improvements in motor dysfunction, and even self-injury, but these may not be sustained, and complications have frequently been noted.[63] More studies are needed before DBS can be considered effective and safe in LND.

Selective dopamine receptor antagonists

A trial of the selective dopamine D1/D5 receptor antagonist ecopipam in LND patients was terminated early due to unanticipated side effects.[64] However, because the drug appeared to reduce self-injury in most of the limited number of patients enrolled, ecopipam could be a useful treatment for self-injurious behavior in LND. Further studies are warranted before it can be considered effective and safe in LND.

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