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Completed

NCT Number: NCT03876522

Natural History and Functional Status Study of Patients With Lafora Disease

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.

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Key information

Conditions

Lafora Disease Brain Diseases Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Epilepsies, Myoclonic Epilepsy Epilepsy, Generalized Epileptic Syndromes Genetic Diseases, Inborn Glycogen Storage Disease Heredodegenerative Disorders, Nervous System Metabolic Diseases Metabolism, Inborn Errors Myoclonic Epilepsies, Progressive Nervous System Diseases Neurodegenerative Diseases Neurologic Manifestations Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Seizures Signs and Symptoms

Age range

5 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

IONIS Investigative Site, Bologna, Italy

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Changes over time in symptom-directed physical exams, measured by height assessment

    Time frame: 24 Months

  2. Changes over time in symptom-directed physical exams, measured by weight assessment

    Time frame: 24 Months

  3. Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT)

    Time frame: 24 Months

  4. Changes over time in symptom-directed physical exams, measured by cardiovascular assessment

    Time frame: 24 Months

  5. Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment

    Time frame: 24 Months

  6. Changes over time in symptom-directed physical exams, measured by respiratory assessment

    Time frame: 24 Months

  7. Changes over time in symptom-directed physical exams, measured by abdomen assessment

    Time frame: 24 Months

  8. Changes over time in symptom-directed physical exams, measured by skin findings

    Time frame: 24 Months

  9. Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale

    Time frame: 24 Months

  10. Seizure frequency, (by type and severity) as recorded in seizure diary

    Time frame: 24 Months

  11. Seizure duration, as measured by awake video EEG

    Time frame: 24 Months

    EEG measured by background activity awake presence of slow waves

  12. Seizure duration, as measured by sleep video EEG

    Time frame: 24 Months

    EEG measured by background activity sleep presence of vertex waves

  13. Change in disease severity using the Lafora Disease Clinical Performance Scale

    Time frame: 24 Months

  14. Change in use of anti-epileptic rescue medication as recorded in seizure diary

    Time frame: 24 Months

  15. Intelligence, as measured by the Leiter International Performance Scale

    Time frame: 24 Months

  16. Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language

    Time frame: 24 Months

  17. Cognitive Function, as measured by Rey Complex Figure Test

    Time frame: 24 Months

  18. Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT)

    Time frame: 24 Months

  19. Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration

    Time frame: 24 Months

  20. Cognitive Function, as measured by Children's Color Trails Test

    Time frame: 24 Months

  21. Motor function, as measured by Gait Analysis

    Time frame: 24 Months

  22. Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form)

    Time frame: 24 Months

  23. Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI)

    Time frame: 24 Months

  24. Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA)

    Time frame: 24 Months

  25. Motor function, as measured by Six-Minute Walk Test (6MWT)

    Time frame: 24 Months

  26. Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients

    Time frame: 24 Months

  27. Motor function, as measured by 9 Hole Pegboard Test

    Time frame: 24 Months

  28. Quality of Life (QoL), as measured by QoL in Epilepsy for Adolescents (QOLIE-AD-48) by age at Screening

    Time frame: 24 Months

  29. Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening

    Time frame: 24 Months

  30. Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening

    Time frame: 24 Months

Sponsors and collaborators

Lead sponsor

Ionis Pharmaceuticals, Inc.

Industry

Registry information

Official study title

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

Important dates

Study start
2019
Primary completion
2022
Study completion
2022
First posted
Mar 15, 2019
Registry last updated
Sep 28, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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