View clinical trials related to Metabolic Diseases.
Filter by:Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
Large amounts of experimental and animal evidence have confirmed that iron accumulation is associated with bone loss. However, it is still lack of the clinical studies relating iron accumulation to bone loss, especially in the pathological conditions during our Chinese. In this study, the investigators aim to assess the association between the levels of serum ferritin and bone mineral density in Chinese healthy postmenopausal women.
Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.
The purpose of this study is to compare the effect of lanthanum carbonate and calcium carbonate on the progression of coronary calcification and vascular endothelial dysfunction.
This is a research study in which your cells will be used for somatic cell nuclear transfer (SCNT), and/or genetic reprogramming research which may result in the production of stem cell lines. This study does not provide treatment.