Natural History and Functional Status Study of Patients With Lafora Disease

Study Overview
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Brief Summary
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A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for use in future Lafora treatment studies.

Official Title
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Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease

Conditions
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Lafora Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Documented genetic diagnosis of Lafora disease based on mutations in both alleles of either the EPM2A or the EPM2B gene and a sibling with a known mutation in EPM2A or EPM2B. Able and willing to comply with the study protocol, including travel to Study Center, procedures, measurements and visits, including: Adequately supportive psychosocial circumstances, in the opinion of the Investigator Caregiver/trial partner committed to facilitate patient's involvement in the study who is reliable, competent, at least 18 years of age. Adequate visual and auditory acuity for neuropsychological testing Exclusion Criteria: Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype Subjects with: complete absence of speech OR inability to perform any activities of daily living OR who are completely bedridden. Current participation in an interventional or therapeutic study Receiving an investigational drug within 90 days of the Baseline Visit Prior or current treatment with gene or stem cell therapy Any other diseases which may significantly interfere with the assessment of Lafora disease. Have any other conditions, which, in the opinion of the Investigator or Sponsor would make the subject unsuitable for inclusion, or could interfere with the subject participating in or completing the study.

Ages Eligible for Study
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Minimum Age: 5 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Lafora Disease Patients<br>Documented genetic diagnosis of Lafora disease; clinical diagnosis of Lafora disease and a sibling with a known mutation in EPM2A or EPM2B; clinical diagnosis of Lafora disease and a previously undescribed mutation in EPM2A or EPM2B; asymptomatic siblings if mutation positive prior to enrollment. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Changes over time in symptom-directed physical exams, measured by height assessment |  | 24 Months | 
| Changes over time in symptom-directed physical exams, measured by weight assessment |  | 24 Months | 
| Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT) |  | 24 Months | 
| Changes over time in symptom-directed physical exams, measured by cardiovascular assessment |  | 24 Months | 
| Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment |  | 24 Months | 
| Changes over time in symptom-directed physical exams, measured by respiratory assessment |  | 24 Months | 
| Changes over time in symptom-directed physical exams, measured by abdomen assessment |  | 24 Months | 
| Changes over time in symptom-directed physical exams, measured by skin findings |  | 24 Months | 
| Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale |  | 24 Months | 
| Seizure frequency, (by type and severity) as recorded in seizure diary |  | 24 Months | 
| Seizure duration, as measured by awake video EEG | EEG measured by background activity awake presence of slow waves | 24 Months | 
| Seizure duration, as measured by sleep video EEG | EEG measured by background activity sleep presence of vertex waves | 24 Months | 
| Change in disease severity using the Lafora Disease Clinical Performance Scale |  | 24 Months | 
| Change in use of anti-epileptic rescue medication as recorded in seizure diary |  | 24 Months | 
| Intelligence, as measured by the Leiter International Performance Scale |  | 24 Months | 
| Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language |  | 24 Months | 
| Cognitive Function, as measured by Rey Complex Figure Test |  | 24 Months | 
| Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT) |  | 24 Months | 
| Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration |  | 24 Months | 
| Cognitive Function, as measured by Children's Color Trails Test |  | 24 Months | 
| Motor function, as measured by Gait Analysis |  | 24 Months | 
| Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form) |  | 24 Months | 
| Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI) |  | 24 Months | 
| Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA) |  | 24 Months | 
| Motor function, as measured by Six-Minute Walk Test (6MWT) |  | 24 Months | 
| Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients |  | 24 Months | 
| Motor function, as measured by 9 Hole Pegboard Test |  | 24 Months | 
| Quality of Life (QoL), as measured by QoL in Epilepsy for Adolescents (QOLIE-AD-48) by age at Screening |  | 24 Months | 
| Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening |  | 24 Months | 
| Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening |  | 24 Months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Lafora Disease, EPM2A, EPM2B, Myoclonus epilepsy, Myoclonic seizures, Glycogen storage disease