Lafora DiseaseNCT03876522
Natural History and Functional Status Study of Patients With Lafora Disease
An observational study of Lafora Disease, run by Ionis Pharmaceuticals, Inc. at 4 sites in 3 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Lafora Disease
- How many people
- 33 participants
- Where
- 4 sitesin 3 countries
- Study dates
- 9 Jan 2019to 1 Apr 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Global Lafora patient population
Who may be able to join
- 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
Who cannot join
- 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
Show all 10Show fewer
- 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.
Trial locations and contacts
4 sites in 3 countries.
4 sites in 3 countries
United States2 sites
IONIS Investigative Site
Dallas, Texas, 75390
IONIS Investigative Site
Los Angeles, California, 90095
About this study
Official title: 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.
- Conditions
- Lafora Disease
- Keywords
- Lafora Disease, EPM2A, EPM2B, Myoclonus epilepsy, Myoclonic seizures, Glycogen storage disease
- Medical subject headings
- Lafora Disease, Epilepsies, Myoclonic, Seizures, Glycogen Storage Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Changes over time in symptom-directed physical exams, measured by height assessment
Measured: 24 Months
Changes over time in symptom-directed physical exams, measured by weight assessment
Measured: 24 Months
Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT)
Measured: 24 Months
Changes over time in symptom-directed physical exams, measured by cardiovascular assessment
Measured: 24 Months
Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment
Measured: 24 Months
Changes over time in symptom-directed physical exams, measured by respiratory assessment
Measured: 24 Months
Changes over time in symptom-directed physical exams, measured by abdomen assessment
Measured: 24 Months
Changes over time in symptom-directed physical exams, measured by skin findings
Measured: 24 Months
Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale
Measured: 24 Months
Seizure frequency, (by type and severity) as recorded in seizure diary
Measured: 24 Months
Seizure duration, as measured by awake video EEG
EEG measured by background activity awake presence of slow waves
Measured: 24 Months
Seizure duration, as measured by sleep video EEG
EEG measured by background activity sleep presence of vertex waves
Measured: 24 Months
Change in disease severity using the Lafora Disease Clinical Performance Scale
Measured: 24 Months
Change in use of anti-epileptic rescue medication as recorded in seizure diary
Measured: 24 Months
Intelligence, as measured by the Leiter International Performance Scale
Measured: 24 Months
Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language
Measured: 24 Months
Cognitive Function, as measured by Rey Complex Figure Test
Measured: 24 Months
Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT)
Measured: 24 Months
Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration
Measured: 24 Months
Cognitive Function, as measured by Children's Color Trails Test
Measured: 24 Months
Motor function, as measured by Gait Analysis
Measured: 24 Months
Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form)
Measured: 24 Months
Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI)
Measured: 24 Months
Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA)
Measured: 24 Months
Motor function, as measured by Six-Minute Walk Test (6MWT)
Measured: 24 Months
Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients
Measured: 24 Months
Motor function, as measured by 9 Hole Pegboard Test
Measured: 24 Months
Quality of Life (QoL), as measured by QoL in Epilepsy for Adolescents (QOLIE-AD-48) by age at Screening
Measured: 24 Months
Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening
Measured: 24 Months
Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening
Measured: 24 Months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Mar 2019
- Study start9 Jan 2019
- Primary completion1 Apr 2022
- Study completion1 Apr 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lafora DiseaseStudies of the same condition, open and under way.
- More trials run by Ionis Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 33 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ionis Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03876522
- Sponsor's protocol ID
- LAF-NHS
- Status last verified
- Sep 2022
- First submitted
- 10 Jan 2019
- Last updated
- 28 Sep 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease
- ClinicalTrials.gov ID
- NCT03876522
- Acronym / sponsor ID
- LAF-NHS
- Conditions
- Lafora Disease
- Keywords
- Lafora Disease, EPM2A, EPM2B, Myoclonus epilepsy, Myoclonic seizures, Glycogen storage disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 33 participants (actual)
- Lead sponsor
- Ionis Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 9 Jan 2019 (actual)
- Primary completion
- 1 Apr 2022 (actual)
- Study completion
- 1 Apr 2022 (actual)
- First posted
- 15 Mar 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Global Lafora patient population
Key inclusion criteria (5 listed)
- 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:
Key exclusion criteria (10 listed)
- Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype
- Subjects with:
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Sep 2022.
- Individual participant dataSharing planned: No
Related trials for Lafora Disease
RecruitingPhase 1/2
A Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
Lafora Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lafora Disease, run by Ionis Pharmaceuticals, Inc. at 4 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Sep 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Italy, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Changes over time in symptom-directed physical exams, measured by height assessment (time frame: 24 Months). The study lists 30 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Sep 2022.