Genetisk Diagnostik Vid medfödda Metabola Sjukdomar
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 1,000
- 主要终点
- Genetic variant identification using NGS for diagnosis
研究概览
简要总结
Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 1/2000 newborns. Many disorders are treatable provided that a correct diagnosis can be established in time, and for many diseases novel therapies are being developed. Without treatment, many of the conditions result in early death or severe irreversible handicaps.
The Centre for Inherited Metabolic Diseases, CMMS at Karolinska university hospital, is an integrated expert center where clinical specialists work closely together with experts in laboratory medicine, combining clinical genetics, clinical chemistry, pediatrics, neurology, and endocrinology. The center serves the whole Swedish population with diagnostics and expert advice on IEM and has a broad arsenal of biochemical investigations designed to detect defects in intermediary metabolism.
详细描述
Approximately one in two thousand infants is born with a metabolic disorder that often leads to brain damage. By means of high-tech genetic mapping using whole genome sequencing (WGS), the investigators have discovered the molecular foundations for several of these diseases.
For investigation of mitochondrial diseases, mitochondria are isolated from muscle biopsies for analysis of ATP production using a range of substrate combinations, determination of activities of respiratory chain complexes, and analysis of nuclear and mitochondrial DNA.
The center also performs the national neonatal screening program, currently comprising 26 treatable diseases. Dried blood spot samples (DBS) are stored in the phenylketonuria (PKU) biobank, currently (2026) holding around 5 million of Sweden's 10.6 million inhabitants.
Many metabolic disorders, however, lack effective counter-measures.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Medical inferral, suspicion metabolic disease incl epilepsy and their relatives
排除标准
- •Disease other than metabolic
结局指标
主要结局
Genetic variant identification using NGS for diagnosis
时间窗: Through study completion, an average of 1 year.
Variant identification in participants investigated at the investigators' clinic, the Centre for Inherited Metabolic Diseases, is an ongoing clinical activity. In many cases where no variant is identified by NGS (next-generation sequencing) using WGS, additional methods are applied, including transcriptomics, proteomics, and various cellular models. More than 400 participants are investigated annually with NGS/WGS at the investigators' clinic.
次要结局
未报告次要终点