Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progres...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
The documentation surrounding Lafora disease is limited primarily due to its extreme rarity, which affects fewer than 10 individuals per million. This rarity results in fewer systematic clinical studies and a lack of comprehensive phenotypic characterization. Additionally, the genetic basis was only recently identified, and ongoing research is needed to fully understand the condition's clinical features and progression.
To navigate Lafora disease effectively, consider consulting a neurologist with expertise in genetic epilepsy disorders. They can provide specialized care and guidance tailored to your needs. Additionally, connecting with Chelsea’s Hope Lafora Children Research Fund can offer valuable resources and support for families affected by Lafora disease. You may also explore opportunities for participation in patient registries or natural history studies to contribute to the understanding of this condition. For genetic counseling, the National Society of Genetic Counselors maintains a directory at findageneticcounselor.com, which can help you find a qualified professional.
Currently, there are two orphan drugs designated for Lafora disease, including a 2¿-O-(2-methoxyethyl) modified antisense oligonucleotide targeting glycogen synthase 1 (GYS1) pre mRNA and a therapeutic transgene cassette using an adeno-associated viral (AAV)-9 vector expressing functional human cDNA encoding hEPM2A. There is also one active clinical trial related to Lafora disease, which can be explored further at ClinicalTrials.gov. This research offers hope for future treatment options and better understanding of the disease.
Actionable guidance for navigating care for Lafora disease
To navigate Lafora disease effectively, consider consulting a neurologist with expertise in genetic epilepsy disorders. They can provide specialized care and guidance tailored to your needs. Additionally, connecting with Chelsea’s Hope Lafora Children Research Fund can offer valuable resources and support for families affected by Lafora disease. You may also explore opportunities for participation in patient registries or natural history studies to contribute to the understanding of this condition. For genetic counseling, the National Society of Genetic Counselors maintains a directory at findageneticcounselor.com, which can help you find a qualified professional.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Lafora disease community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
2 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 3 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.