Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Mevalonic AciduriaMevalonate Kinase Deficiency5 moreParticipants wanted for study of mevalonate kinase deficiency (MKD), mevalonic aciduria, or hyperimmunoglobulinemia with periodic fever syndrome (HIDS). Patients with MKD (mevalonic aciduria or hyperimmunoglobulinemia with periodic fever syndrome (HIDS)) may be eligible for a research study conducted at Oregon Health & Science University (OHSU) in Portland, Oregon USA. The purpose of the study is to find out more about how these diseases affect body chemistry and health. The researchers also want to find out how cholesterol in the diet affect blood cholesterol and how the body handles cholesterol. This is a short-term and long-term dietary study. The long-term goal of this research is to see if controlling dietary cholesterol can decrease any of the symptoms of the diseases. The study could involve up to 12 one-week admissions to OHSU over the course of 5 years.
Natural History Study of Children With Metachromatic Leukodystrophy
Lipid Metabolism DisordersMetachromatic Leukodystrophy (MLD)14 moreThe purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
North Carolina Newborn Exome Sequencing for Universal Screening
MetabolismInborn Errors2 moreThe NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making. The National Institutes of Health (NICHD and NHGRI) are co-funding this study under a single U-19.
Evaluating Face-Recognition Technology in Syndrome Diagnosis
Multiple AnomaliesDysmorphic Features1 moreBirth defects are relatively common, occurring in 1 in 40 live born babies. They can be single, or multiple. They may occur as part of multiple malformation syndromes, often in association with growth disturbance or intellectual disability. Over 7000 rare syndromes have been identified. Thus, though they are rare they are collectively important. Understanding how a multiple malformation syndrome came about, defining what investigations and health surveillance is needed for affected children and identifying whether there is a treatment is very important for parents and professionals caring for affected children and also for genetic counselling of their extended families, since the majority will have a genetic basis. Diagnosis of these rare disorders is therefore important,but as many syndromes are rare this can be extremely difficult and requires specialist knowledge, many investigations and many hospital appointments. This study aims to determine whether using face-recognition software can improve diagnosis of rare syndromes when used in addition to current routine practice.
Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM...
Cytochrome P450 CYP2D6 Enzyme DeficiencyPoor Metabolizer Due to Cytochrome P450 CYP2D6 Variant11 moreThis 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.
Study of Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients...
Hematologic MalignanciesNonmalignant Diseases6 moreThiotepa is a chemotherapy drug used extensively in bone marrow transplantation. Thiotepa is a prodrug that undergoes metabolic conversion in the liver by CYP2B6 and CYP3A4 to its primary active metabolite, triethylene phosphoramide (TEPA). The goal of this study is to determine what causes some children to have different drug concentrations of thiotepa and TEPA in their bodies and if drug levels are related to whether or not a child experiences severe side-effects during their bone marrow transplant. The hypothesis is that certain clinical and genetic factors cause changes in thiotepa and TEPA drug levels in pediatric bone marrow transplant patients and that high levels may cause severe side-effects.
Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute
PKUPhenylketonurias2 moreThe aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
Study of Melphalan Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients
Hematologic MalignanciesNonmalignant Diseases6 moreMelphalan is a chemotherapy drug used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of melphalan in their bodies and if drug levels are related to whether or not a child experiences severe side-effects during their bone marrow transplant. The hypothesis is that certain clinical and individual factors cause changes in melphalan drug levels in pediatric bone marrow transplant patients and that high levels may cause severe side-effects.
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Inborn Errors of MetabolismUrea Cycle Disorder6 morelnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting in a limited body of evidence. Limited evidence results in weak recommendations which are perceived as unbinding and thus sustains heterogeneous study designs, choice of outcomes and interventions again producing non-uniform data. The goal of the current study is to identify and select reliable instruments, that measure patients' and their parents' perception about relevant (social, emotional, cognitive and physical) aspects in their lives. This set of instruments will secure the comparability of future research findings. Furthermore this instruments will improve the screening of paediatric IEM patients regarding their need for additional (psychosocial or consultative) support in daily hospital routine.
Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation
Hematologic MalignanciesNonmalignant Diseases6 moreFludarabine is a chemotherapy drug used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of fludarabine in their bodies and if drug levels are related to whether or not a child experiences severe side-effects during their bone marrow transplant. The hypothesis is that clinical and genetic factors cause changes in fludarabine drug levels in pediatric bone marrow transplant patients and that high levels may cause severe side-effects.