Status:
COMPLETED
Natural History and Functional Status Study of Patients With Lafora Disease
Lead Sponsor:
Ionis Pharmaceuticals, Inc.
Conditions:
Lafora Disease
Eligibility:
All Genders
5+ years
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 ...
Eligibility Criteria
Inclusion
- 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
Exclusion
- 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.
- 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.
Key Trial Info
Start Date :
January 9 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
April 1 2022
Estimated Enrollment :
33 Patients enrolled
Trial Details
Trial ID
NCT03876522
Start Date
January 9 2019
End Date
April 1 2022
Last Update
September 28 2022
Active Locations (4)
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1
IONIS Investigative Site
Los Angeles, California, United States, 90095
2
IONIS Investigative Site
Dallas, Texas, United States, 75390
3
IONIS Investigative Site
Bologna, Italy
4
IONIS Investigative Site
Madrid, Spain