The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 10
- 试验地点
- 2
- 主要终点
- Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood
研究概览
简要总结
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly occur. Many adults with this disorder also suffer depression and anxiety. Using advanced electroencephalogram (EEG) and magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) we hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo EEG and comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, they will receive neurological and neuropsychological examinations and dietary evaluation.
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
- 18 Years 至 55 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adult with classic PKU who has been seen at one of the hospitals collaborating in this study
- •Age 18-55 years
- •Medical Records available that include genotype and blood phenylalanine levels during the first 6 years of life. (We have over 300 patients with PKU with genotypes in our clinic, of whom about half are adults.)
- •Capable of providing informed consent
- •Able to undergo MRI procedures without sedating medication
- •Does not have metal implants
- •Not currently on Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trials.
排除标准
- •Mild PKU or mild hyperphenylalaninemia
- •Less than 18 years old or great than 55 years old
- •No medical records available for the first 6 years of life
- •No record of genotype
- •Not capable of providing informed consent
- •Not able to undergo MRI without sedating medication
- •Has metal implants
- •Currently taking Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trial
结局指标
主要结局
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood
时间窗: During period of evaluation, approximately 8 hours
Brain Phe levels (umol/L) using MRI correlated spectroscopy and Blood Phe levels (umol/L) obtained on the same day.
次要结局
- Volumetric MRI Findings(During period of evaluation, approximately 8 hours)
- Tremor as Determined Through Neurological Evaluation(During period of evaluation, approximately 8 hours)
- Full Scale Intelligence Quotient (IQ)(During period of evaluation, approximately 8 hours)
- Electroencephalogram (EEG) Findings(During period of evaluation, approximately 8 hours)
- Diffusion Tensor Imaging (DTI) Findings Through MRI(During period of evaluation, approximately 8 hours)
研究者
Susan Waisbren
Susan Waisbren, P.h.D
Boston Children's Hospital