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Metabolism, Inborn Errors clinical trials

View clinical trials related to Metabolism, Inborn Errors.

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NCT ID: NCT02810496 Recruiting - Clinical trials for General Glucocorticoid Resistance

Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia

MUTA-GR
Start date: April 2012
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT02780297 Recruiting - Cystinuria Clinical Trials

Prospective Research Rare Kidney Stones (ProRKS)

ProRKS
Start date: May 2016
Phase:
Study type: Observational

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.

NCT ID: NCT02707211 Not yet recruiting - Clinical trials for Lipid Metabolism, Inborn Errors

Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases

Start date: June 2016
Phase: Phase 0
Study type: Interventional

To test whether active pneumococci immunization can alleviate inflammation and improve cholesterol metabolism in lysosomal lipid storage diseases and associated metabolic disorders.

NCT ID: NCT02635269 Active, not recruiting - Clinical trials for Glycogen Storage Disease Type II

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

Start date: January 2016
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT02428660 Completed - CYP2D6 Polymorphism Clinical Trials

Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM

Start date: February 2015
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT02385162 Withdrawn - Clinical trials for Glycogen Storage Disease Type II

Biomarker for Glycogen Storage Diseases (BioGlycogen)

BioGlycogen
Start date: August 20, 2018
Phase:
Study type: Observational

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.

NCT ID: NCT02356653 Recruiting - Leukemia Clinical Trials

Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC

ExpMACs
Start date: December 2013
Phase: Early Phase 1
Study type: Interventional

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.

NCT ID: NCT02349906 Completed - Clinical trials for Inborn Errors of Metabolism

Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant Diseases

Start date: April 2015
Phase: Phase 2
Study type: Interventional

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.

NCT ID: NCT02322177 Completed - Pregnancy Clinical Trials

Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

Start date: December 19, 2014
Phase:
Study type: Observational

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.

NCT ID: NCT02298712 Withdrawn - Clinical trials for Metabolism, Inborn Errors

Biomarker for Hurler Disease (BioHurler)

BioHurler
Start date: August 20, 2018
Phase:
Study type: Observational

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.