Natural History and Functional Status Study of Patients With Lafora Disease

Overview

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.

Full Title of Study: “Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: February 1, 2022

Arms, Groups and Cohorts

  • Lafora Disease Patients
    • 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.

Clinical Trial Outcome Measures

Primary Measures

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

Participating in This Clinical Trial

Inclusion Criteria

1. 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. 2. Able and willing to comply with the study protocol, including travel to Study Center, procedures, measurements and visits, including: 1. Adequately supportive psychosocial circumstances, in the opinion of the Investigator 2. Caregiver/trial partner committed to facilitate patient's involvement in the study who is reliable, competent, at least 18 years of age. 3. Adequate visual and auditory acuity for neuropsychological testing Exclusion Criteria:

1. Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype 2. Subjects with: 1. complete absence of speech OR 2. inability to perform any activities of daily living OR 3. who are completely bedridden. 3. Current participation in an interventional or therapeutic study 4. Receiving an investigational drug within 90 days of the Baseline Visit 5. Prior or current treatment with gene or stem cell therapy 6. Any other diseases which may significantly interfere with the assessment of Lafora disease. 7. 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.

Gender Eligibility: All

Minimum Age: 5 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Ionis Pharmaceuticals, Inc.
  • Provider of Information About this Clinical Study
    • Sponsor

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