试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- MD
- 入组人数
- 500
研究概览
简要总结
暂无简介。
入排标准
入选标准
- •Patients with an unexplained metabolic phenotype defined as: neurological symptoms and/or abnormalities on (physical) examination suggestive of an inborn error of metabolism (energy deficiency, intoxication type or storage type):
- •Energy deficiency: neurological (repeated rhabdomyolysis, verified exercise intolerance, neuropathy, myopathy, ataxia), ophthalmological (retinitis pigmentosa (RP)), otological (hearing loss, deafness), endocrine (hypoparathyroidism, hypoglycemia)
- •Intoxication: neurological (encephalopathy, regression, movement disorder, psychiatric symptoms), ophthalmological (lens luxation), organic (liver and kidney function abnormalities)
- •Storage: neurological (regression, psychiatric symptoms), ophthalmological (cataract/corneal clouding), skin (angiokeratomas), blood (cytopenias), organic (hepatosplenomegaly, cardiac hypertrophy, skeletal abnormalities, short stature, coarse facial features, umbilical/inguinal hernia)
- •one or more of the following suggesting a deficient metabolic pathway or process:
- •abnormal metabolites in body fluids (CSF, urine, blood)
- •functional studies at a biochemical/cellular level indicative of a metabolic deficiency (e.g. respiratory chain complex analysis)
- •organ dysfunction (e.g. liver or kidney failure)
- •an abnormal clinical function test (protein loading test, fasting test, meal test, validated exercise test, non-ischaemic underarm test)
- •abnormalities on imaging (neuro-imaging (including spectroscopy); X-rays (dysostoses or other bone abnormalities); ultrasound (enlarged liver/spleen))
- •a VUS (variant of unknown significance) in a gene involved in metabolism
- •no diagnosis despite extensive clinical, metabolic and genetic investigations
- •SNP-array/array-CGH: inconclusive results
- •metabolic screening according to up to date clinical protocols: inconclusive results
- •WES (open or gene panel): no class 4 or 5 variants in a known (OMIM annotated) disease related gene that can fully explain the phenotype of the patient
排除标准
- •A patient will be excluded from participation in this study if:
- •after discussion by the ZOEMBA team (see Methods) he/she is suspected to have:
- •-a genetic condition for which there is a simpler and more cost-effective test available for diagnosis
- •-a complex genetic disorder (caused by a combination of multiple genes and/or environmental influences)
- •-a condition that is thought to be caused by factors that are non-genetic, such as infection, injury or toxic exposure
- •he/she is unable to follow the study protocol (e.g. additional blood samples)
研究者
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