Natural History and Functional Status Study of Patients With Lafora Disease

Completed

Conditions studied: Lafora Disease

In brief

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.

Key facts

Study ID

NCT03876522

Run by

Ionis Pharmaceuticals, Inc.

People needed

33

Starts

2019-01-09

Expected to finish

2022-04-01

Last updated by the study team

2022-09-28

Who can join

Age: 5 and older. Sex: any. Healthy volunteers: not accepted.

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.
• 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.

Where it is running

• IONIS Investigative Site — Los Angeles, California, United States
• IONIS Investigative Site — Dallas, Texas, United States
• IONIS Investigative Site — Bologna, Italy
• IONIS Investigative Site — Madrid, Spain

Full record on ClinicalTrials.gov

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