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Inborn Error of Small Molecule Metabolism

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41. Biomarker for Homozygous Familial Hypercholesterolemia

provided by (Responsible Party): Centogene AG Rostock Study Details Study Description Go to Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood Condition or disease Lipoprotein Lipase Deficiency Inborn Error of Lipid Metabolism Corneal Arcus Study Design Go to Layout table for study information Study Type : Observational Estimated Enrollment : 1000 participants Observational Model: Cohort Time Perspective (...) : Undecided Layout table for additional information Studies a U.S. FDA-regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Keywords provided by Centogene AG Rostock: familial hypercholesterolaemia Biomarker Additional relevant MeSH terms: Layout table for MeSH terms Hypercholesterolemia Hyperlipoproteinemia Type II Hyperlipoproteinemia Type I Lipid Metabolism, Inborn Errors Arcus Senilis Hyperlipidemias Dyslipidemias Lipid Metabolism Disorders Metabolic Diseases Metabolism, Inborn

2017 Clinical Trials

42. Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version

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 documentation of cancer histology is the pathology report. Verification of cancers can also be made through other

2016 PDQ - NCI's Comprehensive Cancer Database

43. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®): Health Professional Version

surgical intervention. are biologically quite aggressive, so early and extensive (e.g., radical nephrectomy or partial nephrectomy with wide margins) may be necessary. Targeted therapies including the use of in a combination regimen and are currently under investigation. generally need no intervention. If symptomatic, surgery, cryoablation, and/or laser therapy may be considered. A small randomized controlled trial has shown that may improve quality of life in HLRCC patients with painful skin lesions (...) is a challenge because it requires comprehensive of potentially at-risk blood relatives of individuals diagnosed with VHL. Within this population, the large number of unique pathogenic variants in this small three-exon gene indicates that most family clusters have not arisen from a single founder. Penetrance of pathogenic variants VHL pathogenic variants are highly , with manifestations found in more than 90% by age 65 years.[ ] Almost all develop one or more types of syndrome-related neoplasms. Risk factors

2016 PDQ - NCI's Comprehensive Cancer Database

44. I love it when an antivax “study” meant to show how “dirty” vaccines are backfires so spectacularly

it, the dose makes the poison, and the amount in vaccines is very much low enough not to pose a health threat. Also, formaldehyde is a product of normal metabolism present in the bloodstream of infants at a level . So fearful of contamination of the precious bodily fluids of their babies are antivaccinationists (and, let's be real, it really does boil down to just that in many cases) that it's not enough to demonize vaccines based on the harmless ingredients that do make them up. They have to go beyond (...) and that particles are not molecules [as has been pointed out in the comments]. I did it not to be perfectly scientifically, chemically accurate in a way that I'd do if I were in the lab doing an experiment. I used this example just to illustrate how a large number like 1,821 is not so very large at all. Then remember that 1,821 was the largest number of particles found in any vaccine. The vast majority of them contained many fewer particles, sometimes single digits numbers. Moreover, I note that the authors

2017 Respectful Insolence

45. The Nobel Disease strikes again: Luc Montagnier goes full antivax, with a little help from Henri Joyeux

,and rare,genetic disorders,with two distinct sets of mutations.One a recognized inborn error of metabolism,that supposedly only a couple of dozen cases exist of in the world,the other,a rare disorder,related to a unique expression of a rare cancer gene,that is probably the basis for all of my immune based medical problems.This may not be that unusual for regressive autism.Had I been born two or three decades later with the same conditions,my mother and I might have thought it was vaccines too.My (...) to orthomolecular medicine is , a form of quackery in which massive overtesting is used to measure every biological molecule under the sun, after which the functional medicine doctor will try to , . Although it’s not orthomolecular medicine, functional medicine is based on the same sort of dubious ideas that Pauling promoted. As for cancer, the best that can be said about high dose vitamin C is that it might have some mild anticancer activity, but that the doses required are so high that it’s . Another example

2017 Respectful Insolence

46. Carglumic acid (Carbaglu)

impairment in urea cycle disorders has been shown to correlate with peak levels of ammonia 4 and the duration of hyperammonemic coma. 5 4 Uchino T, et al. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J.Inher. Metab. Dis. 1998: 21 (Suppl 1): 151-159 5 Msall M, et al. Neurologic outcome in children with inborn errors of urea synthesis: outcome of urea- cycle enzymopathies. N Engl J Med 1984: 310: 1500-1505 Clinical Review Virginia Elgin, M.D. and Helen Sile, M.D NDA 22 (...) 160 7.1.3 Pooling of Data Across Studies/Clinical Trials to Estimate and Compare Incidence 161 7.2 Adequacy of Safety Assessments 161 7.2.1 Overall Exposure at Appropriate Doses/Durations and Demographics of Target Populations 162 7.2.2 Explorations for Dose Response 165 7.2.3 Special Animal and/or In Vitro Testing 165 7.2.4 Routine Clinical Testing 166 7.2.5 Metabolic, Clearance, and Interaction Workup 166 7.2.6 Evaluation for Potential Adverse Events for Similar Drugs in Drug Class 166 7.3 Major

2010 FDA - Drug Approval Package

47. Metabolomics enables precision medicine: “A White Paper, Community Perspective” (Full text)

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

2016 Metabolomics PubMed abstract

48. Hypoxia as a Therapy for Mitochondrial Disease (Full text)

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

2016 Science (New York, N.Y.) PubMed abstract

49. 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

50. 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

51. 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

52. 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

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

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

2016 American Journal of Human Genetics PubMed abstract

54. 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

55. 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

56. 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

57. 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

58. 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

59. Hyperkalemia (Diagnosis)

and therapeutic implications. Heart . 2003 Apr. 89(4):e14. . . New MI. Inborn errors of adrenal steroidogenesis. Mol Cell Endocrinol . 2003. 211:75-83. . White PC. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol . 2004. 217:81-87. . Sartorato P, Khaldi Y, Lapeyraque AL, et al. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. Mol Cell Endocrinol . 2004 Mar 31. 217(1-2):119-25. . Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S (...) Urine potassium, sodium, and osmolality Complete blood count (CBC) Metabolic profile If the BUN and serum creatinine levels suggest renal insufficiency, using the MDRD or CKD-EPI equation to determine the estimated glomerular filtration rate (eGFR) is recommended. [ ] Chronic kidney disease alone generally will not cause hyperkalemia until the eGFR is less than 20-25 mL/min. Depending on the clinical findings and the results of the above laboratory work, the following may be indicated: Glucose level

2014 eMedicine.com

60. Low LDL Cholesterol (Hypobetalipoproteinemia) (Diagnosis)

. [ ] Secondary causes The secondary causes of hypobetalipoproteinemia include occult malignancy, as well as conditions such as malnutrition, liver disease, and chronic alcoholism. These conditions must be excluded before the diagnosis of FHBL can be made. Previous Next: Epidemiology Frequency United States Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are rare inborn errors of lipoprotein metabolism. ABL occurs in less than 1 in 1 million persons. FHBL occurs in approximately 1 (...) gene prevents translation of a full-length apoB-100 molecule, leading to the formation of truncated apoB molecules (apoB-37, with 1728 amino acids; apoB-46, with 2057 amino acids; or apoB-31, with 1425 amino acids). [ , , , , ] Metabolic turnover studies indicate that in some persons, these APOB gene mutations result in impaired synthesis of apoB-containing lipoproteins, and that in other patients, they cause increased catabolism of these proteins. Overall, beta-lipoprotein levels remain low

2014 eMedicine.com

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