Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 33
- 试验地点
- 1
- 主要终点
- Changes over time in symptom-directed physical exams, measured by weight assessment
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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.
结局指标
主要结局
Changes over time in symptom-directed physical exams, measured by weight assessment
时间窗: 24 Months
Caregiver Ratings, as measured by Vineland-II and Burden Scale of Family Caregivers (short form)
时间窗: 24 Months
Changes over time in symptom-directed physical exams, measured by skin findings
时间窗: 24 Months
Changes over time in symptom-directed physical exams, measured by musculoskeletal assessment
时间窗: 24 Months
Changes in disease-related symptoms over time assessed by the Lafora Disease Performance Scale
时间窗: 24 Months
Seizure duration, as measured by awake video EEG
时间窗: 24 Months
EEG measured by background activity awake presence of slow waves
Cognitive Function, as measured by Beery Buktenica Developmental Test of Visual Motor Integration
时间窗: 24 Months
Cognitive Function, as measured by Children's Color Trails Test
时间窗: 24 Months
Motor function, as measured by Gait Analysis
时间窗: 24 Months
Motor function, as measured by Timed Up and Go Test (TUG) in ambulatory patients
时间窗: 24 Months
Quality of Life (QoL), as measured by QoL in Epilepsy (QOLIE-31P) by age at Screening
时间窗: 24 Months
Changes over time in symptom-directed physical exams, measured by cardiovascular assessment
时间窗: 24 Months
Seizure duration, as measured by sleep video EEG
时间窗: 24 Months
EEG measured by background activity sleep presence of vertex waves
Change in disease severity using the Lafora Disease Clinical Performance Scale
时间窗: 24 Months
Intelligence, as measured by the Leiter International Performance Scale
时间窗: 24 Months
Disability, as rated by Pediatric Evaluation of Disability Inventory (PEDI)
时间窗: 24 Months
Motor function, as measured by Six-Minute Walk Test (6MWT)
时间窗: 24 Months
Quality of Life (QoL), as measured by QoL in Childhood Epilepsy (QOLCE-55) by age at Screening
时间窗: 24 Months
Changes over time in symptom-directed physical exams, measured by height assessment
时间窗: 24 Months
Changes over time in symptom-directed physical exams, measured by abdomen assessment
时间窗: 24 Months
Cognitive Function, as measured by Woodcock-Johnson IV Tests of Oral Language
时间窗: 24 Months
Cognitive Function, as measured by Rey Complex Figure Test
时间窗: 24 Months
Seizure frequency, (by type and severity) as recorded in seizure diary
时间窗: 24 Months
Changes over time in symptom-directed physical exams, measured by respiratory assessment
时间窗: 24 Months
Changes over time in symptom-directed physical exams, measured by head, eyes, ears, nose, and throat assessment (HEENT)
时间窗: 24 Months
Change in use of anti-epileptic rescue medication as recorded in seizure diary
时间窗: 24 Months
Cognitive Function, as measured by Children's Orientation and Amnesia Test (COAT)
时间窗: 24 Months
Ataxia, as measured by the Scale of Assessment and Rating of Ataxia (SARA)
时间窗: 24 Months
Motor function, as measured by 9 Hole Pegboard Test
时间窗: 24 Months
Quality of Life (QoL), as measured by QoL in Epilepsy for Adolescents (QOLIE-AD-48) by age at Screening
时间窗: 24 Months
次要结局
未报告次要终点