Clinical Trials

NCT IdNCT04833322
TitleGalactose Supplementation for the Treatment of MOGHE
ConditionRefractory Epilepsy
StudyTypeInterventional
OrganizationHospital Ruber Internacional
Sponsor/CollaboratorsHospital Ruber Internacional
StatusRecruiting
GenderAll
AgeGroupChild
Adult
Location (with distance)
  • Hospital Ruber Internacional, Madrid, 28034 , Spain
DescriptionMild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new entity frequently associated with refractory epilepsy and neurodevelopmental disorders. Recently, it has been associated to SLC35A2 (Solute Carrier Family 35 Member A2) brain mosaic pathogenic variants. In addition, patients with germline SLC35A2 pathogenic variants improve with galactose supplementation. Therefore, the investigators aim to elucidate whether d-galactose as an add-on treatment might improve epilepsy and developmental outcomes in patients with MOGHE.