Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 636
- 试验地点
- 50
- 主要终点
- Concordance analysis between METAglut1 and glycorrhachia
研究概览
简要总结
The study aims at validating the diagnostic performances of the METAglut1, a blood in vitro diagnostic test, for the simple and early diagnosis of the Glut1 deficiency syndrome (Glut1DS, or De Vivo disease).
The blood test will be carried out prospectively on patients presenting with a clinical suspicion of Glut1DS, blindly from the reference strategy, which consists in a lumbar puncture for glycorrhachia measurement, completed by a molecular analysis.
The study will be conducted in more than 40 centers in France on up to 3,000 patients for 2 years.
详细描述
The Glut1 Deficiency Syndrome (Glut1DS) is a debilitating, proteiform neurometabolic disorder caused by an impairment in the glucose transporter Glut1 at the cell surface. Patients suffer from seizures, movement disorders and intellectual disabilities. A timely diagnosis is of prime importance as this haploinsufficiency can be improved by the so-called ketogenic diet.
By diagnosing Glut1DS early, based on symptoms associated with Glut1DS, healthcare providers can prescribe the Keto diet therapy early in the disease progression, which could prevent impairment of central nervous system function caused by the disease. Therefore, an early diagnosis of Glut1DS for its treatment is crucial.
Currently, the disease is very difficult to diagnose correctly and in a timely manner. The current diagnosis practice requires a lumbar puncture in order to determine if hypoglycorrhachia occurs. The diagnosis result is then supported by the detection of a heterozygous pathogenic variant in slc2a1 gene. This diagnosis procedure is time consuming, expensive, and requires a geneticist's data interpretation. Currently, ketogenic diet therapy is the most efficient therapy for Glut1DS.
METAglut1 is a first-in-kind IVD device used to aid in the diagnosis of the Glut1 Deficiency Syndrome (Glut1DS) by quantifying the cell surface expression level of the glucose transporter 1 (Glut1) on circulating human red blood cells. The METAglut1 IVD is primarily intended for use in pediatric patients older than 3 months, of both sexes, of any ethnic origin. The METAglut1 IVD may also be used to aid in the diagnosis of Glut1DS in adults with late onset symptoms.
The METAglut1 IVD is authorized for marketing in the European Union pursuant to the CE mark and is currently being distributed in France.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
盲法说明
The METAglut1 test is performed blindly of the reference strategy. METAglut1's result masking is maintained for the investigator on the one hand, and the glycorrhachia value masking is maintained for the centralized testing laboratory in charge of METAglut1 on the other hand.
入排标准
- 年龄范围
- 3 Months 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Prospective patients - Inclusion Criteria:
- •Clinical suspicion of the GLUT1 Deficiency Syndrome
- •Retrospective patients - Inclusion Criteria:
- •Patients with confirmed Glut1DS diagnosis
- •Patients with pending diagnosis at inclusion (inconsistent biological or genetic data)
排除标准
- •(for both cohorts):
- •Patients under 3 months of age
- •Sickle cell disease S/S
- •Abnormal imaging
结局指标
主要结局
Concordance analysis between METAglut1 and glycorrhachia
时间窗: Up to 6 months
This analysis will be performed on patients with a diagnosis of certainty, either positive or negative, in the prospective cohort. For this analysis two subgroups are distinguished: * Patients with lumbar puncture, molecular analysis of the slc2a1 gene and METAglut1 testing. * Patients with at least lumbar puncture and METAglut1 testing.
次要结局
- Sensitivity, specificity, positive and negative predictive values of METAglut1(Up to 6 months)