Natural History and Functional Status Study of Patients With Lafora Disease

NCT03876522 | Completed

• 1 other identifier: LAF-NHS
• Study Type: observational
• Target: 33
• Locations: 3 countries
• Sites: 4

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.

Conditions

Lafora Disease

Keywords

Lafora Disease; EPM2A; EPM2B; Myoclonus epilepsy; Myoclonic seizures; Glycogen storage disease

Outcome Measures

Primary Outcomes (30)

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

  24 Months

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

  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 cardiovascular assessment

  24 Months

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

  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 abdomen assessment

  24 Months

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

  24 Months

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

  24 Months

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

  24 Months

• Seizure duration, as measured by awake video EEG

  EEG measured by background activity awake presence of slow waves

  24 Months

• Seizure duration, as measured by sleep video EEG

  EEG measured by background activity sleep presence of vertex waves

  24 Months

• Change in disease severity using the Lafora Disease Clinical Performance Scale

  24 Months

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

  24 Months

• Intelligence, as measured by the Leiter International Performance Scale

  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

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

  24 Months

• 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

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

  24 Months

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

  24 Months

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

  24 Months

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

  24 Months

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

  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

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

  24 Months

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

  24 Months

Study Arms (1)

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.

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Global Lafora patient population

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Ionis Pharmaceuticals, Inc.: lead

Study Sites (4)

IONIS Investigative Site

Los Angeles, California, 90095, United States

Location

IONIS Investigative Site

Dallas, Texas, 75390, United States

Location

IONIS Investigative Site

Bologna, Italy

Location

IONIS Investigative Site

Madrid, Spain

Location

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.

MeSH Terms

Conditions

Lafora Disease; Epilepsies, Myoclonic; Seizures; Glycogen Storage Disease

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 10, 2019
• First Posted: March 15, 2019
• Study Start: January 9, 2019
• Primary Completion: April 1, 2022
• Study Completion: April 1, 2022
• Last Updated: September 28, 2022

Record last verified: 2022-09

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1); US (2); ES (1)