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Trial record 1 of 2 for:    "Lafora disease"
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Natural History and Functional Status Study of Patients With Lafora Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03876522
Recruitment Status : Active, not recruiting
First Posted : March 15, 2019
Last Update Posted : February 12, 2020
Sponsor:
Collaborator:
Ionis Pharmaceuticals, Inc.
Information provided by (Responsible Party):
Valerion Therapeutics, LLC

Tracking Information
First Submitted Date January 10, 2019
First Posted Date March 15, 2019
Last Update Posted Date February 12, 2020
Actual Study Start Date January 10, 2019
Estimated Primary Completion Date February 1, 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 12, 2019)
  • Changes over time in symptom-directed physical exams, measured by height assessment [ Time Frame: 24 Months ]
  • Changes over time in symptom-directed physical exams, measured by weight assessment [ Time Frame: 24 Months ]
  • Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT) [ Time Frame: 24 Months ]
  • Changes over time in symptom-directed physical exams, measured by cardiovascular assessment [ Time Frame: 24 Months ]
  • Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment [ Time Frame: 24 Months ]
  • Changes over time in symptom-directed physical exams, measured by respiratory assessment [ Time Frame: 24 Months ]
  • Changes over time in symptom-directed physical exams, measured by abdomen assessment [ Time Frame: 24 Months ]
  • Changes over time in symptom-directed physical exams, measured by skin findings [ Time Frame: 24 Months ]
  • Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale [ Time Frame: 24 Months ]
  • Seizure frequency, (by type and severity) as recorded in seizure diary [ Time Frame: 24 Months ]
  • Seizure duration, as measured by awake video EEG [ Time Frame: 24 Months ]
    EEG measured by background activity awake presence of slow waves
  • Seizure duration, as measured by sleep video EEG [ Time Frame: 24 Months ]
    EEG measured by background activity sleep presence of vertex waves
  • Change in disease severity using the Lafora Disease Clinical Performance Scale [ Time Frame: 24 Months ]
  • Change in use of anti-epileptic rescue medication as recorded in seizure diary [ Time Frame: 24 Months ]
  • Intelligence, as measured by the Leiter International Performance Scale [ Time Frame: 24 Months ]
  • Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language [ Time Frame: 24 Months ]
  • Cognitive Function, as measured by Rey Complex Figure Test [ Time Frame: 24 Months ]
  • Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT) [ Time Frame: 24 Months ]
  • Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration [ Time Frame: 24 Months ]
  • Cognitive Function, as measured by Children's Color Trails Test [ Time Frame: 24 Months ]
  • Motor function, as measured by Gait Analysis [ Time Frame: 24 Months ]
  • Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form) [ Time Frame: 24 Months ]
  • Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI) [ Time Frame: 24 Months ]
  • Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA) [ Time Frame: 24 Months ]
  • Motor function, as measured by Six-Minute Walk Test (6MWT) [ Time Frame: 24 Months ]
  • Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients [ Time Frame: 24 Months ]
  • Motor function, as measured by 9 Hole Pegboard Test [ Time Frame: 24 Months ]
  • Quality of Life (QoL), as measured by QoL in Epilepsy for Adolescents (QOLIE-AD-48) by age at Screening [ Time Frame: 24 Months ]
  • Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening [ Time Frame: 24 Months ]
  • Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening [ Time Frame: 24 Months ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
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.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:

Blood samples will be collected and used for evaluations of potential biomarkers of Lafora disease progression.

Cerebral spinal fluid (CSF) samples will be collected and used for safety evaluations and assessments of potential biomarkers of Lafora disease progression.

Sampling Method Non-Probability Sample
Study Population Global Lafora patient population
Condition Lafora Disease
Intervention Not Provided
Study Groups/Cohorts Lafora Disease Patients
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 * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Actual Enrollment
 (submitted: February 11, 2020)
33
Original Estimated Enrollment
 (submitted: March 12, 2019)
30
Estimated Study Completion Date February 1, 2022
Estimated Primary Completion Date February 1, 2022   (Final data collection date for primary outcome measure)
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.
Sex/Gender
Sexes Eligible for Study: All
Ages 5 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Italy,   Spain,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03876522
Other Study ID Numbers LAF-NHS
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Valerion Therapeutics, LLC
Study Sponsor Valerion Therapeutics, LLC
Collaborators Ionis Pharmaceuticals, Inc.
Investigators
Study Director: Valerion Chief Medical Officer Valerion Therapeutics, LLC
PRS Account Valerion Therapeutics, LLC
Verification Date February 2020