Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 5
- 试验地点
- 1
- 主要终点
- Electroretinogram (ERG)
研究概览
简要总结
The purpose of this study is to gather information on the possible symptoms that patients with atypical neuronal ceroid lipofuscinosis type 2 (also known as aTPP1 or atypical tripeptidyl peptidase deficiency) have and how they change over time.
详细描述
This study aims characterize the natural history of atypical TPP1 deficiency patients via longitudinal multidisciplinary assessments.
Multifaceted clinical, laboratory, imaging, and diagnostic assessments will be performed at regular intervals upon enrolled aTPP1 deficiency patients, collated, and analyzed over a three-year longitudinal period.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Any patient with documented TPP1 enzymatic deficiency or TPP1 sequence variants
- •Onset of first symptom after 4 years of age
- •Parental provision of informed consent; child provision of assent (if necessary)
排除标准
- •Any patient with "Classical" TPP1 deficiency (onset of first symptom prior to 4 years of age)
- •Investigator assessment that patient is not suitable candidate to participate in the study
结局指标
主要结局
Electroretinogram (ERG)
时间窗: At baseline and every 6 months afterwards, up to 3 years
Standard ERG will be performed to measure function of cones and rods of the inner and outer photoreceptor layers which amplitudes are typically decreased in classical TPP1 deficiency.
CLN2 Disease Severity Scoring
时间窗: At baseline and every 3 months afterwards, up to 3 years
Modified Hamburg Rating Scale. The rating scale consists of two domains (motor function, language). Within each domain, a score from 0 to 3 is assigned and overall scores are calculated by summing the domain scores for final rating of 0 (severely impaired) to 6 (normal).
Optical Coherence Tomography (OCT)
时间窗: At baseline and every 6 months afterwards, up to 3 years
OCT is non-invasive, quantitative measurement of inner and outer photoreceptor layer thicknesses.
Gait Assessment
时间窗: At baseline and every 6 months afterwards, up to 3 years
Gait assessment is acquired utilizing infrared sensors applied to participant's clothing and will include collection of walking speed, cadence, swing phase, stride length and time, walking base width, stance phase, and double limb support phase.
Brain Magnetic Resonance Imaging (MRI)
时间窗: At baseline and every 12 months afterwards, up to 3 years
Pre/post-contrast images will be acquired to perform volumetric studies and white matter assessment.
Electroencephalography (EEG)
时间窗: At baseline and every 12 months afterwards, up to 3 years
Photoparoxysmal response: present/absent
Cognitive Assessment, Wechsler Intelligence Scale for Children version 4 (WISC-IV)
时间窗: At baseline and every 12 months afterwards, up to 3 years
WISC-IV will generate a full scale of intelligence quotient and five primary index scores: Verbal Comprehension, Visual Spatial, Fluid Reasoning, Working Memory, and Processing Speed. The WAIS-IV is scored by summing the raw scores for each subtest; each raw subtest score is then converted to a scaled scored. They are then combined to create a Full Scale IQ Index score. Test takers will also be given a score on the General Ability Index (GAI).
CSF Testing
时间窗: At baseline and every 3 months afterwards, up to 3 years
Standard laboratory testing and biobanking / storage of remaining CSF (via Ommaya if on enzyme replacement; via lumbar puncture if not on enzyme replacement)
次要结局
未报告次要终点