Evidence map›Paper›PMID 37278968›Full record

ArticleNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2023

D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.

Ángel Aledo-Serrano, Adrián Valls-Carbó, Christina D Fenger, Gudrun Groeppel, Till Hartlieb, Irene Pascual, Erika Herraez, Borja Cabal, Irene García-Morales, Rafael Toledano and 13 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04833322 (Galactose Supplementation for the Treatment of Patients With Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy), which is not on this map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
5.3field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT04833322 naunknown statusnot on this map

Galactose Supplementation for the Treatment of Patients With Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE): a Pilot Trial

TypeinterventionalSponsorHospital Ruber InternacionalRan2021 to 2021Enrolled8ConditionsRefractory Epilepsy, SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of GlycosylationArmsD-Galactose
3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. International journal of molecular sciences · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors at 12 institutions in 7 countries.

Ángel Aledo-SerranoEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain. aaledo@synaptia.org.ORCID 0000-0003-4889-3365
Adrián Valls-CarbóEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Christina D FengerDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
Gudrun GroeppelDepartment of Paediatrics and Adolescent Medicine and Department of Neurology, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.
Till HartliebCenter for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen Clinic, Vogtareuth, Germany.
Irene PascualEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Erika HerraezEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Borja CabalEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Irene García-MoralesEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Rafael ToledanoEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Marcelo BudkeEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Álvaro Beltran-CorbelliniEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Sara BaldassariSorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.
Roland CorasDepartment of Neuropathology, University Hospital, Erlangen, Germany.
Katja KobowDepartment of Neuropathology, University Hospital, Erlangen, Germany.
David M HerreraEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Antonio Del BarrioEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Hans Atli DahlAmplexa Genetics A/S (H.A.D.), Odense, Denmark.
Isabel Del PinoInstitute of Neurosciences (IN), Higher Council for Scientific Research-Miguel Hernandez University, Alicante, Spain.
Stéphanie BaulacSorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.
Ingmar BlumckeDepartment of Neuropathology, University Hospital, Erlangen, Germany.
Rikke S MøllerNeuroscience Institute, Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain.
Antonio Gil-NagelEpilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.
Hospital Ruber Internacional · ESUniversitätsklinikum Erlangen · DECentre National de la Recherche Scientifique · FRHospital Clínico San Carlos · ESFoundation for Biomedical Research · USHospital Infantil Universitario Niño Jesús · ESHospital Universitario Puerta de Hierro Majadahonda · ESJohannes Kepler University of Linz · ATSchön Klinik Vogtareuth · DEUniversidad Rey Juan Carlos · ESUniversitat de Miguel Hernández d'Elx · ESUniversity of Southern Denmark · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encoding a UDP-galactose transporter. Previous research showed that D-galactose supplementation results in clinical improvement in patients with a congenital disorder of glycosylation due to germline variants in SLC35A2. We aimed to evaluate the effects of D-galactose supplementation in patients with histopathologically confirmed MOGHE, with uncontrolled seizures or cognitive impairment and epileptiform activity at the EEG after epilepsy surgery (NCT04833322). Patients were orally supplemented with D-galactose for 6 months in doses up to 1.5 g/kg/day and monitored for seizure frequency including 24-h video-EEG recording, cognition and behavioral scores, i.e., WISC, BRIEF-2, SNAP-IV, and SCQ, and quality of life measures, before and 6 months after treatment. Global response was defined by > 50% improvement of seizure frequency and/or cognition and behavior (clinical global impression of "much improved" or better). Twelve patients (aged 5-28 years) were included from three different centers. Neurosurgical tissue samples were available in all patients and revealed a brain somatic variant in SLC35A2 in six patients (non-present in the blood). After 6 months of supplementation, D-galactose was well tolerated with just two patients presenting abdominal discomfort, solved after dose spacing or reduction. There was a 50% reduction or higher of seizure frequency in 3/6 patients, with an improvement at EEG in 2/5 patients. One patient became seizure-free. An improvement of cognitive/behavioral features encompassing impulsivity (mean SNAP-IV - 3.19 [- 0.84; - 5.6]), social communication (mean SCQ - 2.08 [- 0.63; - 4.90]), and executive function (BRIEF-2 inhibit - 5.2 [- 1.23; - 9.2]) was observed. Global responder rate was 9/12 (6/6 in SLC35A2-positive). Our results suggest that supplementation with D-galactose in patients with MOGHE is safe and well tolerated and, although the efficacy data warrant larger studies, it might build a rationale for precision medicine after epilepsy surgery.

Indexed as

EpilepsyGalactoseElectroencephalographyHumansHyperplasiaPilot ProjectsPrecision MedicineQuality of LifeSeizuresGalactoseDevelopmental and epileptic encephalopathyGenetic epilepsyNeurogeneticsSLC35A2Somatic mutation

Identifiers

PMID37278968
PMCPMC10480113
OpenAlexW4379509098

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.