Natural History and Functional Status Study of Patients With Lafora Disease

Brief Title

Natural History and Functional Status Study of Patients With Lafora Disease

Official Title

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

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.
    



Study Type

Observational


Primary Outcome

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


Condition

Lafora Disease


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.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

33

Start Date

January 10, 2019

Completion Date

February 1, 2022

Primary Completion Date

February 1, 2022

Eligibility Criteria

        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.
      

Gender

All

Ages

5 Years - N/A

Accepts Healthy Volunteers

No

Contacts

, , 

Location Countries

Italy

Location Countries

Italy

Administrative Informations


NCT ID

NCT03876522

Organization ID

LAF-NHS


Responsible Party

Sponsor

Study Sponsor

Ionis Pharmaceuticals, Inc.


Study Sponsor

, , 


Verification Date

July 2020