Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Mayo Clinic
- 入组人数
- 240
- 试验地点
- 1
- 主要终点
- Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.
研究概览
简要总结
Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.
详细描述
Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data
排除标准
- 未提供
结局指标
主要结局
Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.
时间窗: length of study, up to 5 years
Measure the 41 plasma N-glycan levels in 9 PGM1-CDG patients before and after galactose therapy.
Develop quantitative biomarkers for SLC35A2-CDG patients and monitor galactose therapy efficacy.
时间窗: length of study, up to 5 years
Measure levels of plasma N-glycans from 10 SLC35A2-CDG patients before and after galactose therapy.
Quantify N-linked glycan intermediates in plasma and urine
时间窗: length of study, up to 5 years
Measure N-linked glycan intermediates in plasma and urine from PMM2-CDG patients.
Validate biomarker to diagnose and follow NGLY1 deficiency and monitor N-acetylglucosamine (GlcNAc) therapy response.
时间窗: length of study, up to 5 years
Measure the level of Sia-Gal-GlcNAc-Asn biomarker excretion during GlCNAc therapy.
Validate novel diagnostic biomarkers for ALG13-CDG
时间窗: length of study, up to 5 years
Measure GlcNAc-β-Asn on glycoproteins in the cells from the already available fibroblast of 9 ALG13 patients.
次要结局
未报告次要终点
研究者
David R. Deyle
Principal Investigator
Mayo Clinic