ArticleOrphanet journal of rare diseases2019
Treatment with metformin in twelve patients with Lafora disease.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled 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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Adjuvant potential of metformin with standard anti-seizure medications in persons with active epilepsy: a randomised controlled trial.Naunyn-Schmiedeberg's archives of pharmacology · 2026Trial
- Evaluation of metformin for epilepsy prevention or seizure control in people without evidence of diabetes: retrospective cohort study.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Polypharmacy's paradox: accelerated decline in a rare case of Lafora body disease.Postepy psychiatrii neurologii · 2026Article
- New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Adeno-Associated Virus-Based Gene Therapy for Lafora Disease inInternational journal of molecular sciences · 2025Article
- Advances in gene therapy for Lafora disease: Intravenous recombinant adeno-associated virus-mediated delivery of EPM2A and EPM2B genes.Clinical and translational medicine · 2025Article
- Metformin Improves Spatial Memory and Reduces Seizure Severity in a Rat Model of Epilepsy and Alzheimer's Disease comorbidity via PI3K/Akt Signaling Pathway.Molecular neurobiology · 2025Article
- Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy.BMC neurology · 2025Article
- Empagliflozin Repurposing for Lafora Disease: A Pilot Clinical Trial and Preclinical Investigation of Novel Therapeutic Targets.Methods and protocols · 2025Article
- Exploring the clinical connections between epilepsy and diabetes mellitus: Promising therapeutic strategies utilizing agmatine and metformin.Naunyn-Schmiedeberg's archives of pharmacology · 2024Review
- Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets.Biomolecules · 2024Review
- Gene therapy for Lafora disease in the Epm2aMolecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- AMPK role in epilepsy: a promising therapeutic target?Journal of neurology · 2024Review
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- Genetic prediction of antihyperglycemic drug targets and risk of epilepsy: a mendelian randomisation study.BMC pharmacology & toxicology · 2024Article
- Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts.Journal of biosciences · 2024Review
- Metformin: The Winding Path from Understanding Its Molecular Mechanisms to Proving Therapeutic Benefits in Neurodegenerative Disorders.Pharmaceuticals (Basel, Switzerland) · 2023Review
- Lafora Disease: A Case Report and Evolving Treatment Advancements.Brain sciences · 2023Article
- ILAE Genetics Literacy series: Progressive myoclonus epilepsies.Epileptic disorders : international epilepsy journal with videotape · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a well known neuroprotective effect. For this reason, in 2016, the European Medicines Agency granted orphan designation to metformin for the treatment of LD. However, no clinical data is available thus far.
methodsWe retrospectively collected data on LD patients treated with metformin referred to three Italian epilepsy centres.
resultsTwelve patients with genetically confirmed LD (6 EPM2A, 6 NHLRC1) at middle/late stages of disease were treated with add-on metformin for a mean period of 18 months (range: 6-36). Metformin was titrated to a mean maintenance dose of 1167 mg/day (range: 500-2000 mg). In four patients dosing was limited by gastrointestinal side-effects. No serious adverse events occurred. Three patients had a clinical response, which was temporary in two, characterized by a reduction of seizure frequency and global clinical improvement.
conclusionsMetformin was overall safe in our small cohort of LD patients. Even though the clinical outcome was poor, this may be related to the advanced stage of disease in our cases and we cannot exclude a role of metformin in slowing down LD progression. Therefore, on the grounds of the preclinical data, we believe that treatment with metformin may be attempted as early as possible in the course of LD.
Indexed as
Identifiers
What OpenQuestion holds
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.