Clinical trial NCT03876522: Natural History and Functional Status Study of Patients With Lafora Disease
Official title: Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Lafora Disease
Keywords: Lafora Disease
EPM2A
EPM2B
Myoclonus epilepsy
Myoclonic seizures
Glycogen storage disease
Lead sponsor: Ionis Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2019-03-15
Enrollment: 33
Sex: ALL
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Global Lafora patient population

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.


Eligibility 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.

Primary outcomes:
measure: Changes over time in symptom-directed physical exams, measured by height assessment
timeFrame: 24 Months
measure: Changes over time in symptom-directed physical exams, measured by weight assessment
timeFrame: 24 Months
measure: Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT)
timeFrame: 24 Months
measure: Changes over time in symptom-directed physical exams, measured by cardiovascular assessment
timeFrame: 24 Months
measure: Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment
timeFrame: 24 Months
measure: Changes over time in symptom-directed physical exams, measured by respiratory assessment
timeFrame: 24 Months
measure: Changes over time in symptom-directed physical exams, measured by abdomen assessment
timeFrame: 24 Months
measure: Changes over time in symptom-directed physical exams, measured by skin findings
timeFrame: 24 Months
measure: Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale
timeFrame: 24 Months
measure: Seizure frequency, (by type and severity) as recorded in seizure diary
timeFrame: 24 Months
measure: Seizure duration, as measured by awake video EEG
timeFrame: 24 Months
measure: Seizure duration, as measured by sleep video EEG
timeFrame: 24 Months
measure: Change in disease severity using the Lafora Disease Clinical Performance Scale
timeFrame: 24 Months
measure: Change in use of anti-epileptic rescue medication as recorded in seizure diary
timeFrame: 24 Months
measure: Intelligence, as measured by the Leiter International Performance Scale
timeFrame: 24 Months
measure: Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language
timeFrame: 24 Months
measure: Cognitive Function, as measured by Rey Complex Figure Test
timeFrame: 24 Months
measure: Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT)
timeFrame: 24 Months
measure: Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration
timeFrame: 24 Months
measure: Cognitive Function, as measured by Children's Color Trails Test
timeFrame: 24 Months
measure: Motor function, as measured by Gait Analysis
timeFrame: 24 Months
measure: Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form)
timeFrame: 24 Months
measure: Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI)
timeFrame: 24 Months
measure: Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA)
timeFrame: 24 Months
measure: Motor function, as measured by Six-Minute Walk Test (6MWT)
timeFrame: 24 Months
measure: Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients
timeFrame: 24 Months
measure: Motor function, as measured by 9 Hole Pegboard Test
timeFrame: 24 Months
measure: Quality of Life (QoL), as measured by QoL in Epilepsy for Adolescents (QOLIE-AD-48) by age at Screening
timeFrame: 24 Months
measure: Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening
timeFrame: 24 Months
measure: Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening
timeFrame: 24 Months
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: IONIS Investigative Site
state: California
city: Dallas
country: United States
facility: IONIS Investigative Site
state: Texas
city: Bologna
country: Italy
facility: IONIS Investigative Site
city: Madrid
country: Spain
facility: IONIS Investigative Site
Study officials:
References: