Chelsea's Hope Lafora Children Research Fund

Cycle 2

Patient-Partnered Collaboration

Web:

Contact:

Lafora disease is the most severe form of human epilepsy. It is an inherited myoclonus epilepsy syndrome. Although a child is born with Lafora, they may grow up normally with no perceivable problems until they begin to suffer with seizures during adolescence.

Last updated 04/30/2026

Clinical

Disease Class

Epilepsy and seizure disorders

Genetic diseases

Inherited metabolic disorder

Lysosomal and storage diseases

Neurological diseases

Body Systems

Metabolic

Muscular / Skeletal

Nervous / Sensory

Respiratory

Organs

Brain

Heart

Muscles

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

EPM2A

NHLRC1

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal recessive

Newborn Screening

Disease Mechanism(s)

Carbohydrate metabolism defect

Glutamate pathway malfunction

Glycogen-related defects

Glycosylation defects

Inherited metabolic disorder

Age of Onset

Adolescence (12-17)

Middle childhood (6-11)

Average Age at Diagnosis

Adolescence (12-17)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Affected Sex(es)

Female

Male

National Prevalence

11-50

Global Prevalence

1001-10000

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

Mediterranean Region: Italy, Spain, Greece, Turkey; Middle East: Arabian Peninsula; Pakistan & India

Symptoms / Phenotypes

behavioral changes

cognitive decline

cognitive impairment / confusion / brain fog

dementia

depression

dysarthria

movement disorders / ataxia / tremor

respiratory insufficiency / respiratory failure

seizures / epilepsy

Biomarkers

Diagnostic

· glycogen levels

Monitoring

· Glycogen Levels, Glutamine Levels

Existing Therapies

Expanded access (Compassionate Use)

Off-Label Drug Use

Therapies in Development

Antibody-based therapy (monoclonal antibodies, biologics)

· (3) VAL-0417, VAL-1221, hTfR Amylase AEF

Antisense oligonucleotide (ASO) therapy

Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)

Gene therapy

· (2) AAV9-EMP2A, AAV9-EPM2B

RNA interference (RNAi) therapy (siRNA, etc.)

Repurposed drug

· (1) Metformin

Small molecule therapy (novel small molecule drugs)

· (1) MZE001

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Data analysis

Data sharing

Focus group participation or coordination

Funding

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Sample provision

Travel coordination

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

Some of our cell lines are freely available

Disease Model

Dog

Mouse

Disease Model, Involvement

Consulted

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

Getting ownership of assets held by pharma companies

Clinical Trial Role

Data analysis

Data sharing

Focus group

Funding

Outcome measures, development

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Travel coordination

Clinical Trial Types

Phase 1

Biobank, Institution

None

Center of Excellence, Institution

None

Registry

Yes, we have collaborated on a registry

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Genetic data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Both

Platform, Registry

Other

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Imaging data

Platform, Natural History Study

REDCap

FDA Patient Listening Session

We have taken formal steps to schedule a meeting

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

Yes, we have guidance available on our website

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

We don't have a Research Roadmap

None

Europe

South America

Europe