Table 3 Novel symptomatic pharmacological treatments for AS
From: Promising therapeutic aspects in human genetic imprinting disorders
Modality | Research stage | Potential curative effects |
|---|---|---|
Gaboxadol (OV101) | Clinical trial (NCT03882918, NCT02996305: phase 2; NCT04106557: phase 3) | Improve motor functions and rescue behavioral and sleep deficits [57] |
Modified diketopiperazine (NNZ-2591) | Clinical trial (NCT05011851: phase 2) | Improve motor and cognitive deficits and decrease seizures |
Nutritional formulation of exogenous ketones | Clinical trial (NCT03644693: Not applicable) | Improve motor coordination, learning skills and overall neurologic functions and reduce seizure activity [58, 59] |
Melatonin | Clinical trial (NCT01903681: phase 1; NCT01906866: phase 3) | |
Levodopa/Carbidopa | Clinical trial (NCT00829439: phase 1; NCT03235037: Not applicable; NCT01281475: phase 2,3) | Improve neurodevelopment and reduce abnormal movements (e.g., tremors) [62] |
Minocycline | Clinical trial (NCT02056665: phase 2; NCT01531582: Not applicable) | Decrease motor deficits and increase long-term potentiation [63] |
NSI-189 | Preclinical | Improve motor and cognitive functions [64] |
CB1R antagonist (CBD) | Preclinical | Attenuates seizures and help normalize the EEG deficits [65] |
CIM6P/IGF2 receptor ligands | Preclinical | Reserve cognitive impairment, motor deficits and attenuate audiogenic seizures [66] |
BK-channel antagonist | Preclinical | Help normalize neuronal excitability and ameliorate seizure susceptibility [67] |
Lovastatin and simvastatin | Preclinical | Suppress the epileptiform activity and audiogenic seizure [68]; improve the cognitive and behavioral deficits [69] |
PP2A inhibitor (LB-100) | Preclinical | Improve motor functions and rescue behavioral deficits [70] |
Taurine | Preclinical | Improve learning and motor skills [71] |