Emerging treatments

Early levodopa therapy

Attempts to restore dopamine levels in older patients have been unsuccessful in treating the motor or behavioural aspects of Lesch-Nyhan disease (LND).[24]​ However, one 2024 study suggests that levodopa administered very early in life (at around age 1 year, or before the full phenotype has developed) may prevent the development of self-injury in LND, if dosed sufficiently.[25]​ Three patients were treated with levodopa from age 11-13 months, and long-term follow-up into adolescence showed that the development of self-injurious behaviour was prevented in two patients. The third patient developed self-injury at age 1.5 years on a lower dose, underscoring the potential importance of adequate dosing.

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 LND patients who have received DBS, targeted at the globus pallidus pars interna, have been reported in the literature.[58][59][60][61][62][63][64][65][66][67]​​ Some showed remarkable improvements in motor dysfunction, and even self-injury, but these may not be sustained, and complications have frequently been noted.[66] 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.[68] 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 behaviour in LND. Further studies are warranted before it can be considered effective and safe in LND.

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