Natural History and Functional Status Study of Patients With Lafora Disease

Lafora Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03876522
• Other study ID #: LAF-NHS
• Status: Completed
• Start date: January 9, 2019
• Est. completion date: April 1, 2022

Study information

• Verified date: September 2022
• Source: Ionis Pharmaceuticals, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 33
• Est. completion date: April 1, 2022
• Est. primary completion date: April 1, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Lafora Disease

Locations

Country	Name	City	State
Italy	IONIS Investigative Site	Bologna
Spain	IONIS Investigative Site	Madrid
United States	IONIS Investigative Site	Dallas	Texas
United States	IONIS Investigative Site	Los Angeles	California

Sponsors (1)

Lead Sponsor	Collaborator
Ionis Pharmaceuticals, Inc.

Countries where clinical trial is conducted

United States,  Italy,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Changes over time in symptom-directed physical exams, measured by height assessment		24 Months
Primary	Changes over time in symptom-directed physical exams, measured by weight assessment		24 Months
Primary	Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT)		24 Months
Primary	Changes over time in symptom-directed physical exams, measured by cardiovascular assessment		24 Months
Primary	Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment		24 Months
Primary	Changes over time in symptom-directed physical exams, measured by respiratory assessment		24 Months
Primary	Changes over time in symptom-directed physical exams, measured by abdomen assessment		24 Months
Primary	Changes over time in symptom-directed physical exams, measured by skin findings		24 Months
Primary	Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale		24 Months
Primary	Seizure frequency, (by type and severity) as recorded in seizure diary		24 Months
Primary	Seizure duration, as measured by awake video EEG	EEG measured by background activity awake presence of slow waves	24 Months
Primary	Seizure duration, as measured by sleep video EEG	EEG measured by background activity sleep presence of vertex waves	24 Months
Primary	Change in disease severity using the Lafora Disease Clinical Performance Scale		24 Months
Primary	Change in use of anti-epileptic rescue medication as recorded in seizure diary		24 Months
Primary	Intelligence, as measured by the Leiter International Performance Scale		24 Months
Primary	Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language		24 Months
Primary	Cognitive Function, as measured by Rey Complex Figure Test		24 Months
Primary	Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT)		24 Months
Primary	Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration		24 Months
Primary	Cognitive Function, as measured by Children's Color Trails Test		24 Months
Primary	Motor function, as measured by Gait Analysis		24 Months
Primary	Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form)		24 Months
Primary	Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI)		24 Months
Primary	Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA)		24 Months
Primary	Motor function, as measured by Six-Minute Walk Test (6MWT)		24 Months
Primary	Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients		24 Months
Primary	Motor function, as measured by 9 Hole Pegboard Test		24 Months
Primary	Quality of Life (QoL), as measured by QoL in Epilepsy for Adolescents (QOLIE-AD-48) by age at Screening		24 Months
Primary	Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening		24 Months
Primary	Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening		24 Months