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Inborn Error of Small Molecule Metabolism

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41. Metabolomics enables precision medicine: “A White Paper, Community Perspective” (PubMed)

Metabolomics enables precision medicine: “A White Paper, Community Perspective” Metabolomics is the comprehensive study of the metabolome, the repertoire of biochemicals (or small molecules) present in cells, tissues, and body fluids. The study of metabolism at the global or "-omics" level is a rapidly growing field that has the potential to have a profound impact upon medical practice. At the center of metabolomics, is the concept that a person's metabolic state provides a close (...) only a narrow set of blood chemistry analytes to assess health and disease states. Examples include measuring glucose to monitor diabetes, measuring cholesterol and high density lipoprotein/low density lipoprotein ratio to assess cardiovascular health, BUN and creatinine for renal disorders, and measuring a panel of metabolites to diagnose potential inborn errors of metabolism in neonates.We anticipate that the narrow range of chemical analyses in current use by the medical community today

Full Text available with Trip Pro

2016 Metabolomics

42. Lipoic Acid Supplement for Cystine Stone

to Share IPD: No Layout table for additional information Studies a U.S. FDA-regulated Drug Product: Yes Studies a U.S. FDA-regulated Device Product: No Keywords provided by University of California, San Francisco: Cystinuria Kidney stone Alpha lipoic acid Additional relevant MeSH terms: Layout table for MeSH terms Cystinuria Renal Aminoacidurias Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases Thioctic Acid (...) Intervention/treatment Phase Cystinuria Dietary Supplement: Alpha lipoic acid Drug: Placebo Phase 2 Detailed Description: Cystinuria is a rare inherited autosomal recessive disorder of the kidney that is the result of a defect in the dibasic amino acid transporter in the renal proximal tubule and small intestine. Supersaturation of cystine in the urine produces crystals that precipitate and form calculi, which can be a cause of obstruction, infection, and chronic kidney disease (Chillarón 2010). One

2016 Clinical Trials

43. Biomarker for Creatine Deficiency Syndromes

): Centogene AG Rostock Study Details Study Description Go to Brief Summary: Development of a new mass spectrometry-based biomarker for the ear-ly and sensitive diagnosis of the Creatine Deficiency Syndromes from dry-blood-spot sample Condition or disease Intellectual Disability Developmental Delay Movement Disorder Behavioral Disorder Intractable Epilepsy Detailed Description: The Creatine Deficiency Syndromes (CDS) are a group of inborn errors of metabolism which interrupt the biosynthesis (...) metabolic alterations in the blood of affected patients, that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity. Therefore it is the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment. Study Design Go to Layout table for study information Study Type : Observational Estimated Enrollment : 1000 participants

2016 Clinical Trials

44. Biomarker for Patients With Gilbert Disease

for MeSH terms Hyperbilirubinemia Gilbert Disease Pathologic Processes Hyperbilirubinemia, Hereditary Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases (...) by Sanger sequencing. Secondary Outcome Measures : The Gilbert disease specific biomarker candidates finding [ Time Frame: 24 months ] The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker

2016 Clinical Trials

45. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B<sub>6</sub>-Dependent Epilepsy. (PubMed)

affecting B6 vitamer metabolism or by inactivation of PLP, which can occur when compounds accumulate as a result of inborn errors of other pathways or when small molecules are ingested. Whole-exome sequencing of two children from a consanguineous family with pyridoxine-dependent epilepsy revealed a homozygous nonsense mutation in proline synthetase co-transcribed homolog (bacterial), PROSC, which encodes a PLP-binding protein of hitherto unknown function. Subsequent sequencing of 29 unrelated indivduals (...) Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP and/or pyridoxine. Deficiency of PLP in the brain can be caused by inborn errors

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2016 American Journal of Human Genetics

46. Hypoxia as a Therapy for Mitochondrial Disease (PubMed)

Hypoxia as a Therapy for Mitochondrial Disease Defects in the mitochondrial respiratory chain (RC) underlie a spectrum of human conditions, ranging from devastating inborn errors of metabolism to aging. We performed a genome-wide Cas9-mediated screen to identify factors that are protective during RC inhibition. Our results highlight the hypoxia response, an endogenous program evolved to adapt to limited oxygen availability. Genetic or small-molecule activation of the hypoxia response

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2016 Science (New York, N.Y.)

47. Biomarker for Patients With Fabry Disease

Insufficiency, Chronic Hearing Loss Fabry Disease Angiokeratoma Urologic Diseases Renal Insufficiency Hearing Disorders Ear Diseases Otorhinolaryngologic Diseases Sensation Disorders Neurologic Manifestations Nervous System Diseases Signs and Symptoms Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Vascular Diseases Cardiovascular (...) Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases

2016 Clinical Trials

48. Understudy Gene Offers Hope for Spinal Muscular Atrophy

& Scientific Policy Post navigation in These beautiful sisters, Brooke (6) and Brielle (8) Kennedy, love anything Disney. And they have type II spinal muscular atrophy I began writing about genetics decades ago, and the best thing about getting older is witnessing the development of targeted treatments for single-gene diseases that I never thought would happen. But it is happening, for cystic fibrosis, Duchenne muscular dystrophy, hemophilia, various inborn errors of metabolism, blindness, and many other (...) conditions. The steps may be incremental for some conditions, but researchers are deploying a staggeringly diverse armamentarium of techniques and technologies to fight genetic disease, from recombinant DNA-based drugs, to enzyme replacement and substrate reduction treatments, to gene therapy, antisense compounds, microRNAs, gene silencing, RNAi, exon skipping, and small molecule approaches. Now spinal muscular atrophy enters the arena of the possible. SMA isn’t one of the more familiar single-gene

2015 PLOS Blogs Network

49. Kolbam - cholic acid

discussion 2.1. Introduction Problem statement The inborn errors of bile acid synthesis are a category of metabolic liver disease (Setchell & Heubi, 2006). These conditions are extremely rare genetic disorders and cholic acid has been granted orphan medicinal product status pursuant to Regulation (EC) No 141/2000 for the treatment of inborn errors in primary bile acid synthesis (EU/3/09/683) with a calculated prevalence of 0.07 per 10,000 people in the European Union (EU). Individuals with inborn errors (...) be metabolised to an array of unusual bile acids, several of which have been shown to be hepatotoxic. The absence of primary bile acids causes hepatocytes to continuously metabolize cholesterol in an attempt to established normal bile acid pool. The result is the continued production of high concentrations of these hepatotoxic metabolites, which cause a progressive cholestasis. The liver disease associated with these inborn errors in bile acid synthesis is progressive and, if untreated, may lead to death

2015 European Medicines Agency - EPARs

50. Ravicti - glycerol phenylbutyrate

–scavenging drugs such as HPN-100 and NaPBA. RAVICTIi (HPN-100) is a prodrug of phenylbutyric acid (PBA) and shares the same mechanism of action and metabolic pathway as NaPBA. It is hydrolyzed to glycerol and PBA in the gastrointestinal tract via pancreatic lipases. Because hydrolysis presumably only begins after HPN-100 exits the stomach and enters the proximal small intestine where it is exposed to pancreatic lipases, PBA delivered orally as HPN-100 enters the circulation about 75% more slowly than (...) to end of the T wave QTc time interval between the start of the Q wave and the end of the T wave in the heart's electrical cycle QTc (interval) corrected QT interval RBC red blood cell SAE serious adverse event SAP scientific advisory panel SAP statistical analysis plan SAP scientific advisory panel SD standard deviation SE safety extension SE standard error SIF simulated intestinal fluid Assessment report EMA/676925/2015 Page 6/89 SmPC summary of product characteristics SO switch over SOC system

2015 European Medicines Agency - EPARs

51. Biomarker for Hypophosphatasia Disease

. FDA-regulated Device Product: No Keywords provided by Centogene AG Rostock: Hypophosphatasia Disease Biomarker Additional relevant MeSH terms: Layout table for MeSH terms Hypophosphatasia Metal Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases (...) -Generation Sequencing (NGS) of the ALPL gene will be performed. The mutation will be confirmed by Sanger sequencing. Secondary Outcome Measures : The Hypophosphatasia disease specific biomarker candidates finding [ Time Frame: 24 months ] The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control

2015 Clinical Trials

52. An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency

: Other Study ID Numbers: LAL-EA01 First Posted: March 3, 2015 Last Update Posted: June 8, 2016 Last Verified: November 2015 Keywords provided by Alexion Pharmaceuticals: Cholesteryl Ester Storage Disease Acid lipase disease Cholesterol ester hydrolase deficiency LIPA Deficiency Wolman disease Lysosomal Storage Disease Additional relevant MeSH terms: Layout table for MeSH terms Wolman Disease Cholesterol Ester Storage Disease Lipidoses Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic (...) (for a small molecule) or 60 days (for a biologic) of commencing treatment, and which in the opinion of the investigator or Sponsor, may negatively impact patient safety. Patients who have received sebelipase alfa as part of a clinical trial that is currently active. Patients with known hypersensitivity to eggs. Contacts and Locations Go to No Contacts or Locations Provided More Information Go to Layout table for additonal information Responsible Party: Alexion Pharmaceuticals ClinicalTrials.gov Identifier

2015 Clinical Trials

53. Biomarker for Farber Disease

Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Histiocytosis, Non-Langerhans-Cell Histiocytosis Lymphatic Diseases (...) -Generation Sequencing (NGS) of the ASAH1 gene will be performed. The mutation will be confirmed by Sanger sequencing. Secondary Outcome Measures : The Farber disease specific biomarker candidates finding [ Time Frame: 24 months ] The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort

2014 Clinical Trials

54. Cancer Genetics Risk Assessment and Counseling

and/or estimation of empiric cancer risks may be important, especially if decisions about treatments such as risk-reducing surgery will be based on this family history.[ , ] Accuracy varies by cancer site and degree of relatedness.[ , , ] Reporting of cancer family histories may be most accurate for breast cancer [ , ] and less accurate for gynecologic malignancies [ , ] and colon cancer.[ ] Self-reported family histories may contain errors and, in rare instances, could be fictitious.[ , , ] The most reliable (...) for several rare syndromes such as ,[ ] ,[ , ] ,[ ] and .[ ] In some cases, features are also an indicator for a likely diagnosis.[ , ] Based on these considerations, genetic testing options may consist of limited targeted testing for pathogenic variants in one or a small number

2012 PDQ - NCI's Comprehensive Cancer Database

55. Orphacol - cholic acid

Assessment report as adopted by the CHMP with all information of a commercially confidential nature deleted. Assessment report EMA/596651/2013 Page 2/74 Product information Invented name of the medicinal product Orphacol Applicant: Laboratoire CTRS Active substance: Cholic acid Common name: Cholic acid Pharmaco-therapeutic group (ATC code): Bile Acid Preparations (A05AA03) Therapeutic indications: Orphacol is indicated for the treatment of inborn errors in primary bile acid synthesis due to 3ß- Hydroxy (...) /127 on 18 December 2002 in the following indication: treatment of inborn errors in primary bile acid synthesis. The calculated prevalence of this condition was 0.06 per 10,000 EEA population. Following the CHMP positive opinion on this marketing authorisation, the Committee for Orphan Medicinal Products (COMP) reviewed the designation of Orphacol as an orphan medicinal product in the approved indication. The outcome of the COMP review can be found on the Agency's website: ema.europa.eu/Find

2013 European Medicines Agency - EPARs

56. Pellagra (Overview)

, which can, as well, be considered an alcoholism indicator. [ ] Clinical manifestations of pellagra are a less sensitive indicator than biochemical niacin deficiency in carcinoid patients with carcinoid syndrome. Occasionally, an abortive form called pellagroid (eg, erythema pellagroids, pseudopellagra) is present. Hartnup syndrome is an inborn error of tryptophan metabolism. In addition, the use of isoniazid is known to cause the symptoms of pellagra, as does the long-term administration of 5 (...) induces a pellagralike state; plasma tryptophan levels are decreased in patients with HIV infection. High-dose nicotinamide treatment may successfully reverse this HIV-induced metabolic abnormality. Niacin is proposed to be a secondary preventive factor of AIDS in patients with HIV infection. [ , , ] Next: Pathophysiology Pellagra is the late stage of severe niacin deficiency. Niacin, or vitamin B-3, is a water-soluble vitamin. In 1926, Goldberger reported that nicotinamide was a preventive factor

2014 eMedicine.com

57. Protein-Losing Enteropathy (Overview)

T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, et al. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Eur J Hum Genet . 2016 Feb 17. . McMillan T. Neonatal diabetes and protein losing enteropathy: a case report. BMC Medical genetics . Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, et al. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. J Clin (...) of the GI tract are also considered PLE. Hypoalbuminemia can result from protein loses through the skin, the kidneys, or the respiratory tract as well as decreased synthesis in the face of normal turnover. PLE is generally secondary to 1 of 3 mechanisms: Lymphatic obstruction Inflamed mucosa Molecular changes in the epithelial barrier in the absence of other signs of pathology Next: Background Although PLE implies an intestinal disease associated with the small bowel, the term "protein-losing

2014 eMedicine Pediatrics

58. Glycogen-Storage Disease Type III (Diagnosis)

> Genetics of Glycogen-Storage Disease Type III Updated: Feb 18, 2019 Author: David H Tegay, DO, FACMG; Chief Editor: Maria Descartes, MD Share Email Print Feedback Close Sections Sections Genetics of Glycogen-Storage Disease Type III Overview Background Glycogen-storage disease (GSD) type III (GSD III) is an autosomal recessive inborn error of metabolism caused by loss of function mutations of the glycogen debranching enzyme (Amylo-1,6-glucosidase [ AGL ]) gene, which is located at chromosome band (...) . [ ] The clinical status of both patients had significantly improved since their conditions were originally described in 1928. Although Snappes and van Creveld's patients with GSD III were the first individuals in whom a defect in glycogen metabolism was reported, Cori and Cori demonstrated in 1952 that the absence of glucose-6-phosphatase activity was the enzyme defect in GSD I (von Gierke disease). Indeed, GSD I was the first inborn error of metabolism in which the precise enzyme defect was identified. Since

2014 eMedicine Pediatrics

59. Hematopoietic Stem Cell Transplantation (Diagnosis)

Aplastic anemia Pure red-cell aplasia Paroxysmal nocturnal hemoglobinuria Fanconi anemia Thalassemia major Sickle cell anemia Severe combined immunodeficiency (SCID) Wiskott-Aldrich syndrome Hemophagocytic lymphohistiocytosis Inborn errors of metabolism Epidermolysis bullosa Severe congenital neutropenia Shwachman-Diamond syndrome Diamond-Blackfan anemia Leukocyte adhesion deficiency HSCT-related morbidity and mortality Complications associated with HSCT include both early and late effects. Early-onset (...) leukemia Chronic lymphocytic leukemia Myeloproliferative disorders Myelodysplastic syndromes Non-Hodgkin lymphoma Hodgkin lymphoma Pure red cell aplasia Paroxysmal nocturnal hemoglobinuria major (SCID) Wiskott-Aldrich syndrome Hemophagocytic lymphohistiocytosis (HLH) Inborn errors of metabolism - Eg, mucopolysaccharidosis, Gaucher disease, metachromatic leukodystrophies, and adrenoleukodystrophies Epidermolysis bullosa Severe congenital neutropenia Shwachman-Diamond syndrome Diamond-Blackfan anemia

2014 eMedicine Pediatrics

60. Biotin Deficiency (Diagnosis)

of intestinal malabsorption of biotin. Marginal biotin deficiency during pregnancy and lactation: Recent studies have shown decreased biotin levels in a significant proportion of pregnant and lactating women. There are concerns that marginal biotin deficiency during pregnancy might be teratogenic and some experts have recommended a higher intake of biotin by pregnant women. [ ] Certain inborn errors of biotin metabolism may also lead to the manifestation of biotin deficiency. (BTD) is inherited (...) the holocarboxylase enzyme has performed several carboxylations it is captured by cellular lysosomes. In the lysosomes, various proteolytic enzymes degrade the holocarboxylase to form biocytin, which, in turn, is hydrolyzed by the enzyme biotinidase to form biotin and lysine. Free biotin is then available for insertion into an apocarboxylase to form a new holocarboxylase molecule. This recycling process is not 100% efficient. As a result, small amounts of free biotin (and some biocytin) escape the cycle

2014 eMedicine Pediatrics

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