Natural History and Functional Status Study of Patients With Lafora Disease
Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease
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.
Changes over time in symptom-directed physical exams, measured by height assessment
Study Arms / Comparison Groups
Lafora Disease Patients
Description: 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.
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
January 10, 2019
February 1, 2022
Primary Completion Date
February 1, 2022
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
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
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
1. Any known genetic abnormality, including chromosomal aberrations that confound the
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
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.