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Natural History and Functional Status Study of Patients With Lafora Disease

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ClinicalTrials.gov Identifier: NCT03876522
Recruitment Status : Recruiting
First Posted : March 15, 2019
Last Update Posted : July 24, 2019
Sponsor:
Collaborator:
Ionis Pharmaceuticals, Inc.
Information provided by (Responsible Party):
Valerion Therapeutics, LLC

Brief Summary:
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.

Condition or disease
Lafora Disease

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease
Actual Study Start Date : January 10, 2019
Estimated Primary Completion Date : February 1, 2022
Estimated Study Completion Date : February 1, 2022


Group/Cohort
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.



Primary Outcome Measures :
  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 ]

Biospecimen Retention:   Samples With DNA

Blood samples will be collected and used for evaluations of potential biomarkers of Lafora disease progression.

Cerebral spinal fluid (CSF) samples will be collected and used for safety evaluations and assessments of potential biomarkers of Lafora disease progression.



Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Global Lafora patient population
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03876522


Contacts
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Contact: Ionis Pharmaceuticals 800-679-4747 patients@ionisph.com

Locations
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United States, California
Valerion Investigative Site Recruiting
Los Angeles, California, United States, 90095
United States, Texas
Minassian Recruiting
Dallas, Texas, United States, 75390
Italy
Valerion Investigative Site Recruiting
Bologna, Italy
Spain
Valerion Investigative Site Recruiting
Madrid, Spain
Sponsors and Collaborators
Valerion Therapeutics, LLC
Ionis Pharmaceuticals, Inc.
Investigators
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Study Director: Valerion Chief Medical Officer Valerion Therapeutics, LLC

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Responsible Party: Valerion Therapeutics, LLC
ClinicalTrials.gov Identifier: NCT03876522     History of Changes
Other Study ID Numbers: LAF-NHS
First Posted: March 15, 2019    Key Record Dates
Last Update Posted: July 24, 2019
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Valerion Therapeutics, LLC:
Lafora Disease
EPM2A
EPM2B
Myoclonus epilepsy
Myoclonic seizures
Glycogen storage disease

Additional relevant MeSH terms:
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Lafora Disease
Myoclonic Epilepsies, Progressive
Epilepsies, Myoclonic
Epilepsy, Generalized
Epilepsy
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Epileptic Syndromes
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn