Natural History and Functional Status Study of Patients With Lafora Disease

Completed

• Conditions: Lafora Disease

• Registration Number: NCT03876522
• Lead Sponsor: Ionis Pharmaceuticals, Inc.

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2019-01-09
• Study First Submitted: 2019-01-10
• Study First Submitted QC: 2019-03-12
• Study First Posted: 2019-03-15
• Primary Completion: 2022-04-01
• Study Completion: 2022-04-01
• Status Verified: 2022-09
• Last Update Submitted: 2022-09-26
• Last Update Posted: 2022-09-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 33

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Changes over time in symptom-directed physical exams, measured by weight assessment	24 Months
Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment	24 Months
Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale	24 Months
Seizure duration, as measured by awake video EEG	24 Months	EEG measured by background activity awake presence of slow waves
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
Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients	24 Months
Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening	24 Months
Changes over time in symptom-directed physical exams, measured by cardiovascular assessment	24 Months
Seizure duration, as measured by sleep video EEG	24 Months	EEG measured by background activity sleep presence of vertex waves
Change in disease severity using the Lafora Disease Clinical Performance Scale	24 Months
Intelligence, as measured by the Leiter International Performance Scale	24 Months
Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI)	24 Months
Motor function, as measured by Six-Minute Walk Test (6MWT)	24 Months
Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening	24 Months
Changes over time in symptom-directed physical exams, measured by height assessment	24 Months
Changes over time in symptom-directed physical exams, measured by abdomen assessment	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
Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form)	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 respiratory assessment	24 Months
Changes over time in symptom-directed physical exams, measured by skin findings	24 Months
Seizure frequency, (by type and severity) as recorded in seizure diary	24 Months
Change in use of anti-epileptic rescue medication as recorded in seizure diary	24 Months
Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT)	24 Months
Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA)	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

Trial Locations

Locations (1)

IONIS Investigative Site; 🇪🇸 Madrid, Spain