Natural History and Functional Status Study of Patients With Lafora Disease

September 26, 2022 updated by: Ionis Pharmaceuticals, Inc.

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
33

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
      • Bologna, Italy
        • Ionis Investigative Site
  • Spain
      • Madrid, Spain
        • Ionis Investigative Site
  • United States
    • California
      • Los Angeles, California, United States, 90095
        • Ionis Investigative Site
    • Texas
      • Dallas, Texas, United States, 75390
        • Ionis Investigative Site

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

1 year and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Global Lafora patient population

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
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.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Changes over time in symptom-directed physical exams, measured by height assessment
Time Frame: 24 Months
24 Months
Changes over time in symptom-directed physical exams, measured by weight assessment
Time Frame: 24 Months
24 Months
Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT)
Time Frame: 24 Months
24 Months
Changes over time in symptom-directed physical exams, measured by cardiovascular assessment
Time Frame: 24 Months
24 Months
Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment
Time Frame: 24 Months
24 Months
Changes over time in symptom-directed physical exams, measured by respiratory assessment
Time Frame: 24 Months
24 Months
Changes over time in symptom-directed physical exams, measured by abdomen assessment
Time Frame: 24 Months
24 Months
Changes over time in symptom-directed physical exams, measured by skin findings
Time Frame: 24 Months
24 Months
Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale
Time Frame: 24 Months
24 Months
Seizure frequency, (by type and severity) as recorded in seizure diary
Time Frame: 24 Months
24 Months
Seizure duration, as measured by awake video EEG
Time Frame: 24 Months
EEG measured by background activity awake presence of slow waves
24 Months
Seizure duration, as measured by sleep video EEG
Time Frame: 24 Months
EEG measured by background activity sleep presence of vertex waves
24 Months
Change in disease severity using the Lafora Disease Clinical Performance Scale
Time Frame: 24 Months
24 Months
Change in use of anti-epileptic rescue medication as recorded in seizure diary
Time Frame: 24 Months
24 Months
Intelligence, as measured by the Leiter International Performance Scale
Time Frame: 24 Months
24 Months
Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language
Time Frame: 24 Months
24 Months
Cognitive Function, as measured by Rey Complex Figure Test
Time Frame: 24 Months
24 Months
Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT)
Time Frame: 24 Months
24 Months
Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration
Time Frame: 24 Months
24 Months
Cognitive Function, as measured by Children's Color Trails Test
Time Frame: 24 Months
24 Months
Motor function, as measured by Gait Analysis
Time Frame: 24 Months
24 Months
Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form)
Time Frame: 24 Months
24 Months
Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI)
Time Frame: 24 Months
24 Months
Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA)
Time Frame: 24 Months
24 Months
Motor function, as measured by Six-Minute Walk Test (6MWT)
Time Frame: 24 Months
24 Months
Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients
Time Frame: 24 Months
24 Months
Motor function, as measured by 9 Hole Pegboard Test
Time Frame: 24 Months
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
24 Months
Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening
Time Frame: 24 Months
24 Months
Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening
Time Frame: 24 Months
24 Months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Ionis Pharmaceuticals, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
January 9, 2019

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
April 1, 2022

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
April 1, 2022

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 10, 2019

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 12, 2019

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
March 15, 2019

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
September 28, 2022

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 26, 2022

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
September 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • LAF-NHS

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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