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.
Age range
5 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Changes over time in symptom-directed physical exams, measured by height assessment
Timeframe: 24 Months
Changes over time in symptom-directed physical exams, measured by weight assessment
Timeframe: 24 Months
Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT)
Timeframe: 24 Months
Changes over time in symptom-directed physical exams, measured by cardiovascular assessment
Timeframe: 24 Months
Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment
Timeframe: 24 Months
Changes over time in symptom-directed physical exams, measured by respiratory assessment
Timeframe: 24 Months
Changes over time in symptom-directed physical exams, measured by abdomen assessment
Timeframe: 24 Months
Changes over time in symptom-directed physical exams, measured by skin findings
Timeframe: 24 Months
Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale
Timeframe: 24 Months
Seizure frequency, (by type and severity) as recorded in seizure diary
Timeframe: 24 Months
Seizure duration, as measured by awake video EEG
Timeframe: 24 Months
Seizure duration, as measured by sleep video EEG
Timeframe: 24 Months
Change in disease severity using the Lafora Disease Clinical Performance Scale
Timeframe: 24 Months
Change in use of anti-epileptic rescue medication as recorded in seizure diary
Timeframe: 24 Months
Intelligence, as measured by the Leiter International Performance Scale
Timeframe: 24 Months
Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language
Timeframe: 24 Months
Cognitive Function, as measured by Rey Complex Figure Test
Timeframe: 24 Months
Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT)
Timeframe: 24 Months
Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration
Timeframe: 24 Months
Cognitive Function, as measured by Children's Color Trails Test
Timeframe: 24 Months
Motor function, as measured by Gait Analysis
Timeframe: 24 Months
Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form)
Timeframe: 24 Months
Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI)
Timeframe: 24 Months
Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA)
Timeframe: 24 Months
Motor function, as measured by Six-Minute Walk Test (6MWT)
Timeframe: 24 Months
Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients
Timeframe: 24 Months
Motor function, as measured by 9 Hole Pegboard Test
Timeframe: 24 Months
Quality of Life (QoL), as measured by QoL in Epilepsy for Adolescents (QOLIE-AD-48) by age at Screening
Timeframe: 24 Months
Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening
Timeframe: 24 Months
Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening
Timeframe: 24 Months