View clinical trials related to Metabolism, Inborn Errors.
Filter by:As the investigators observed a case of glucocorticoid mutation revealed by incidentally discovered bilateral adrenal nodular hyperplasia, it was postulated that this molecular anormality could be more frequent than previously described. To validate this hypothesis, it was decided to study 150 multicenter consecutive patients, presenting with incidentally discovered bilateral adrenal masses without clinical signs of Cushing's disease. In all these patients GR gene will be studied, mutations will be detected and described, functional disturbance will be tested. Usual polymorphisms will be described. Correlation between clinical signs, hormonal and morphological abnormalities and presence or absence of GR mutations will be searched.
The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.
To test whether active pneumococci immunization can alleviate inflammation and improve cholesterol metabolism in lysosomal lipid storage diseases and associated metabolic disorders.
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
This randomized controlled trial will evaluate whether the use of pharmacogenetic testing through a Medication Therapy Management (MTM) program has a beneficial impact on drug therapy problems. More specifically, cytochrome DNA testing, which provides information with regards to participant specific metabolism of medications, will be used in the evaluation of participant medication regimens. The overall aim of the project is to evaluate if the addition of genetic CYP testing to a standardized MTM Program provides increased clinical value. To answer this question, the investigators will look at the drug therapy problems (DTPs) identified by the genetic test compared to those DTPs discovered without the test.
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
The goal of this protocol is to expand access for patients who lack a fully HLA (Human leukocyte antigen) matched sibling donor and who are candidates for allogeneic hematopoietic stem cell transplant (HSCT). These patients have a serious or immediately life-threatening disease for which HSCT is indicated. These patients are not eligible for other Children's Hospital of Philadelphia IRB approved protocols that utilize CliniMACs technology for T depletion.
The aim of the trial is to describe the safety and efficacy of intravenous (i.v.) Treosulfan compared to the conventional (myeloablative) dose of i.v. Busulfan, each administered as part of a standardised Fludarabine-containing conditioning regimen and to contribute to a PK model which permits - in conjunction with data comparing Treosulfan and Busulfan in adults with malignant diseases - to extend the use of Treosulfan in the paediatric population by extrapolating efficacy.
Background: - People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby. Objectives: - To collect data from the medical records of women with an inborn error of metabolism. Also, to create a pregnancy registry of inborn errors of metabolism. Eligibility: - Women with an inborn error of metabolism who either: - have been pregnant in the past, - are currently pregnant, or - have recently talked with their doctor about becoming pregnant. Design: - This study will collect data only. No extra tests will be done. - Participants will be in the study for the length of their pregnancy and for 1 year after delivery. - Participants will answer questions about their family s health. - The participant s doctor will send their medical records to researchers. These may include data about: - Last health care visit before pregnancy - Blood, urine, ultrasound, or lab results during pregnancy - Delivery and recovery after delivery - Researchers will ask for the test(s) used to confirm pregnancy. - After the participant has her baby, researchers will ask for data about how the baby is doing. This may include when the baby is sitting, walking, talking, etc. - The data will be placed into a database. The database will not include the participant s name or identifying data.
Development of a new MS-based biomarker for the early and sensitive diagnosis of Hurler disease from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.