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  • 進捗状況
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  • Recruiting

  • Effects of predictive genetic testing
  • Genetic risk testing for malignancies (e.g., Breast Cancer 1/2), cardiovascular diseases, coagulation (e.g., thrombophilia), storage disorders (e.g., hemochromatosis), cholesterol, glaucoma, and pharmacogenomic information
  • Germany
  • 2019-12-30

  • Recruiting

  • iNTD (International Network on Neurotransmitter related Disorders) Registry
  • Aromatic amino acid decarboxylase (AADC) deficiency # Tyrosine hydroxylase (TH) deficiency # Dopamine beta-hydroxylase (DßH) deficiency # Monoamine oxidase A (MAOA) deficiency # Dopamine transporter (DAT) deficiency # Vesicular monoamine transporter 2 (VMAT) deficiency # Autosomal recessive GTP cyclohydrolase deficiency # Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease) # 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency # Dihydropteridine reductase (DHPR) deficiency # Sepiapterin reductase (SR) deficiency # Folate receptor alpha (FOLR1) deficiency # Dihydrofolate reductase (DHFR) deficiency # 3-phosphoserine phosphatase (3-PSP) deficiency # 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency # Phosphoserine aminotransferase deficiency # Glycine encephalopathy, also known as Non-ketotic hyperglycinaemia # GABA-transaminase-deficiency # Succinate-semialdehyde-dehydroxylase deficiency # suspicious CSF results (suggesting neurotransmitter related disorder) without known diagnosis # DNAJC12 Deficiency;G24.8 - Other dystonia;G90.8 - Other disorders of autonomic nervous system;G31.8 - Other specified degenerative diseases of nervous system;G24.1 - Idiopathic familial dystonia;E70.8 - Other disorders of aromatic amino-acid metabolism;E70.1 - Other hyperphenylalaninaemias;D52.8 - Other folate deficiency anaemias;E72.8 - Other specified disorders of amino-acid metabolism
  • Austria, Canada, China, Czech Republic, France, Germany, Greece, Italy, Japan, Netherlands, Norway, Poland, Serbia, Singapore, Spain, Taiwan, Province of China, Turkey, United States
  • 2015-03-06

  • Recruiting

  • The effect of individually tailored lifestyle counselling on the cardiovascular disease risk of people with Familial Hypercholesterolemia (FH).
  • Familial hypercholesterolemia (FH) is an autosomal dominant disorder of the lipoprotein metabolism. Due to a defect of the low density lipoprotein (LDL) receptor gene, plasma concentrations of LDL cholesterol (LDL-C) are elevated. In the Netherlands, approximately one in 300 people is affected with the heterozygous type of FH. A national cascade screening project to detect people with FH was introduced in 2003 by the Ministry of Health, Welfare, and Sports. The project is run by the Foundation for Tracing Hereditary Hypercholesterolemia (StOEH) and through this project, some tens of thousands of people in the Netherlands have already been and are made aware that they have FH. Elevated serum LDL-C in general and therefore also FH is associated with an elevated risk of premature cardiovascular disease (CVD)(4), which is the disease with the highest burden in disability adjusted life years (DALYs) in the Netherlands. If not diagnosed and treated, the cumulative risk of developing coronary artery disease (CAD) by age of 60 is over 60% for men, and over 30% for women. This elevated risk does not appear to make people with FH more anxious. However, they seem to underestimate their CVD risk and perceive it similar to those who were clinically diagnosed with FH, but in whom no mutation was found. Keywords (ENG): Familial Hypercholesterolemia Lifestyle Cardiovascular disease risk Keywords (DUTCH): Familiaire Hypercholesterolemie Leefstijl Cardiovasculair ziekterisico
  • The Netherlands
  • 2009-07-07

  • Recruiting

  • Study of Kidney Tumors in Younger Patients
  • Clear Cell Sarcoma of the Kidney;Congenital Mesoblastic Nephroma;Diffuse Hyperplastic Perilobar Nephroblastomatosis;Rhabdoid Tumor of the Kidney;Stage I Kidney Wilms Tumor;Stage I Renal Cell Cancer AJCC v6 and v7;Stage II Kidney Wilms Tumor;Stage II Renal Cell Cancer AJCC v7;Stage III Kidney Wilms Tumor;Stage III Renal Cell Cancer AJCC v7;Stage IV Kidney Wilms Tumor;Stage IV Renal Cell Cancer AJCC v7;Stage V Kidney Wilms Tumor
  • Australia, Canada, Israel, New Zealand, Puerto Rico, Switzerland, United States
  • 2009-05-09

  • Recruiting

  • Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
  • Metabolism, Inborn Errors;Lipid Metabolism, Inborn Errors;Carbohydrate Metabolism, Inborn Errors;Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);Carnitine Palmitoyl Transferase 2 Deficiency;VLCAD Deficiency;Medium-chain Acyl-CoA Dehydrogenase Deficiency;Multiple Acyl-CoA Dehydrogenase Deficiency;Carnitine Transporter Deficiency;Neutral Lipid Storage Disease;Glycogen Storage Disease Type II;Glycogen Storage Disease Type III;Glycogen Storage Disease Type IV;Glycogen Storage Disease Type V;Muscle Phosphofructokinase Deficiency;Phosphoglucomutase 1 Deficiency;Phosphoglycerate Mutase Deficiency;Phosphoglycerate Kinase Deficiency;Phosphorylase Kinase Deficiency;Beta Enolase Deficiency;Lactate Dehydrogenase Deficiency;Glycogen Synthase Deficiency;Metabolism, Inborn Errors;Lipid Metabolism, Inborn Errors;Carbohydrate Metabolism, Inborn Errors;Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);Carnitine Palmitoyl Transferase 2 Deficiency;VLCAD Deficiency;Medium-chain Acyl-CoA Dehydrogenase Deficiency;Multiple Acyl-CoA Dehydrogenase Deficiency;Carnitine Transporter Deficiency;Neutral Lipid Storage Disease;Glycogen Storage Disease Type II;Glycogen Storage Disease Type III;Glycogen Storage Disease Type IV;Glycogen Storage Disease Type V;Muscle Phosphofructokinase Deficiency;Phosphoglucomutase 1 Deficiency;Phosphoglycerate Mutase Deficiency;Phosphoglycerate Kinase Deficiency;Phosphorylase Kinase Deficiency;Beta Enolase Deficiency;Lactate Dehydrogenase Deficiency;Glycogen Synthase Deficiency;Metabolism, Inborn Errors;Lipid Metabolism, Inborn Errors;Carbohydrate Metabolism, Inborn Errors;Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);Carnitine Palmitoyl Transferase 2 Deficiency;VLCAD Deficiency;Medium-chain Acyl-CoA Dehydrogenase Deficiency;Multiple Acyl-CoA Dehydrogenase Deficiency;Carnitine Transporter Deficiency;Neutral Lipid Storage Disease;Glycogen Storage Disease Type II;Glycogen Storage Disease Type III;Glycogen Storage Disease Type IV;Glycogen Storage Disease Type V;Muscle Phosphofructokinase Deficiency;Phosphoglucomutase 1 Deficiency;Phosphoglycerate Mutase Deficiency;Phosphoglycerate Kinase Deficiency;Phosphorylase Kinase Deficiency;Beta Enolase Deficiency;Lactate Dehydrogenase Deficiency;Glycogen Synthase Deficiency;Metabolism, Inborn Errors;Lipid Metabolism, Inborn Errors;Carbohydrate Metabolism, Inborn Errors;Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);Carnitine Palmitoyl Transferase 2 Deficiency;VLCAD Deficiency;Medium-chain Acyl-CoA Dehydrogenase Deficiency;Multiple Acyl-CoA Dehydrogenase Deficiency;Carnitine Transporter Deficiency;Neutral Lipid Storage Disease;Glycogen Storage Disease Type II;Glycogen Storage Disease Type III;Glycogen Storage Disease Type IV;Glycogen Storage Disease Type V;Muscle Phosphofructokinase Deficiency;Phosphoglucomutase 1 Deficiency;Phosphoglycerate Mutase Deficiency;Phosphoglycerate Kinase Deficiency;Phosphorylase Kinase Deficiency;Beta Enolase Deficiency;Lactate Dehydrogenase Deficiency;Glycogen Synthase Deficiency
  • Denmark
  • 2015-12-09