Longitudinal Neuroimaging in Sturge-Weber Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 80
- 试验地点
- 2
- 主要终点
- Accuracy of detection of Sturge-Weber syndrome brain involvement by a novel fast magnetic resonance imaging (MRI) approach as compared to standard MRI.
研究概览
简要总结
In this project the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create multiple types of MR images in about 5 minutes, without contrast administration (and sedation even in young children), can be also readily applied in other pediatric brain disorders in the future. The investigators will also study how advanced MRI, including susceptibility-weighted and diffusion tensor imaging can detect detailed signs of brain vascular and neuronal reorganization that helps improve neurological and cognitive outcome of children and young adults with SWS, who could benefit from targeted interventions in the future to minimize neurocognitive deficits in affected patients. All enrolled subjects will undergo advanced brain MRI and neurocognitive evaluation to achieve these goals.
详细描述
This project will combine advanced neuroimaging with detailed neuro-psychology evaluation, performed in both children and young adults affected by Sturge-Weber syndrome, in order to address two main aims, each of them with two research hypotheses:
AIM 1. To determine the accuracy of a novel, rapid MRI approach for detection of early and advanced SWS brain abnormalities as compared to a standard MRI acquisition (current clinical standard).
Hypothesis 1.1. In young children with SWS, rapid MRI using STAGE will detect the presence and extent of brain involvement with high accuracy when compared to standard MRI.
Hypothesis 1.2. In children, adolescents, and young adults, rapid MRI using STAGE will have high accuracy to detect advanced brain vascular and parenchymal abnormalities as compared to standard MRI.
Since the detrimental neurocognitive effects of SWS brain involvement are most robust during the early disease course, early interventions, including preventive antiepileptic treatment in children with high-risk port-wine birthmark are being considered. This paradigm changing therapeutic approach would greatly benefit from safe, accurate imaging for rapid screening not requiring sedation or contrast injection. In this aim, the investigators will evaluate a recently developed, rapid, multi-echo MRI acquisition protocol (STAGE: Strategically Acquired Gradient Echo) for its ability to detect early and late SWS-related vascular and brain tissue abnormalities.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 3 Months 至 30 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Subjects with Sturge-Weber syndrome (SWS):
- •Age 3 months - 30 years;
- •Presence of a facial port-wine birthmark (PWB) indicating a risk for SWS and/or evidence of SWS brain involvement based on the presence of one or more intracranial SWS brain abnormalities from previous clinical imaging (MRI or computed tomography) scan(s) with or without a facial PWB. SWS brain abnormalities can include both brain vascular and/or parenchymal abnormalities (including atrophy, calcification, etc.);
- •In children who will undergo formal neuropsychology testing including detailed language testing (age 3 years and above): proficiency of English language.
- •Healthy control subjects:
- •Age 3 years - 30 years;
- •No history of neurological or psychiatric disorder
排除标准
- •For all subjects:
- •Metal in the head or mouth that would preclude safe, artifact-free MRI scanning; or any other metal or electronic device contraindicated for MRI scanning.
- •History of severe claustrophobia, precluding staying still in the scanner for up to 30 minutes.
- •Pregnancy (pregnant women will be scheduled for the study after delivery).
- •For SWS subjects, who will receive MRI contrast material, additional exclusion criteria:
- •History of sensitivity to MRI contrast material;
- •History of renal disease that would preclude safe administration of MRI contrast material
研究组 & 干预措施
Patients with SWS or high-risk facial port-wine birthmark
All patients with SWS brain involvement (based on previous imaging) or facial port-wine birthmark indicating a high risk for SWS brain involvement will undergo a brain MRI and neuro-psychology testing.
干预措施: Brain magnetic resonance imaging (Diagnostic Test)
Patients with SWS or high-risk facial port-wine birthmark
All patients with SWS brain involvement (based on previous imaging) or facial port-wine birthmark indicating a high risk for SWS brain involvement will undergo a brain MRI and neuro-psychology testing.
干预措施: Neuro-psychology testing (Behavioral)
结局指标
主要结局
Accuracy of detection of Sturge-Weber syndrome brain involvement by a novel fast magnetic resonance imaging (MRI) approach as compared to standard MRI.
时间窗: During procedure
Presence (score 1) vs. absence (score 0) of SWS brain abnormalities in each of 8 cerebral lobes using fast MRI compared with the same scores obtained from standard MRI, obtained in the same imaging session, as the ground truth.
Correlation of diffusion tensor imaging (DTI) brain connectivity score with verbal IQ acquired within 1 day.
时间窗: 1 day
Verbal IQ (normal mean: 100, standard deviation: 15) will be determined by neuropsychology evaluation and correlated with DTI brain connectivity scores (range: 0-1, 0 indicating no connectivity, 1 indicating the strongest connectivity) measured by MRI.
Correlation of diffusion tensor imaging (DTI) brain connectivity score with non-verbal IQ acquired within 1 day.
时间窗: 1 day
Non-verbal IQ (normal mean: 100, standard deviation: 15) will be determined by neuropsychology evaluation and correlated with DTI brain connectivity scores (range: 0-1, 0 indicating no connectivity, 1 indicating the strongest connectivity) measured by MRI.
Correlation of enlarged cerebral deep vein scores, measured by magnetic resonance imaging (MRI), with full scale IQ acquired within 1 day.
时间窗: 1 day
Full scale IQ (normal mean: 100, standard deviation: 15) will be determined and its correlation with enlarged deep vein scores (range: 0-12, 0 indicating no enlarged deep veins, 12 indicating the most extensive enlarged deep veins) measured by MRI calculated.
次要结局
- Correlation of enlarged deep vein scores determined by magnetic resonance imaging (MRI) with motor scores acquired within 1 day.(1 day)
研究者
Csaba Juhasz
Professor
Wayne State University