Galactose Supplementation for the Treatment of MOGHE
- Conditions
- Refractory EpilepsySLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation
- Interventions
- Dietary Supplement: D-Galactose
- Registration Number
- NCT04833322
- Lead Sponsor
- Hospital Ruber Internacional
- Brief Summary
Mild 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 8
- MOGHE diagnosis at histopathological examination of the epilepsy surgery tissue.
- Epilepsy refractoriness or ongoing epileptiform activity at EEG.
- Allergy to galactose or supplement components.
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Single arm group D-Galactose Galactose supplementation
- Primary Outcome Measures
Name Time Method Seizure frequency 6 months Seizure diary
Epileptiform activity at EEG 6 months Epileptiform activity quantification (per epoch)
- Secondary Outcome Measures
Name Time Method Behavioral assessment 6 months Teacher and Parent Rating Scale (SNAP-IV) and Conners Continuous Performance Test (CPT-II)
Cognitive assessment 6 months Evaluated with Wechsler Intelligence Scale for Children (WISC-IV) and Behavior Rating Inventory of Executive Function-2 (BRIEF-2)
Trial Locations
- Locations (1)
Hospital Ruber Internacional
🇪🇸Madrid, Madrid, Comunidad De, Spain