Clinical Research Directory

Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease

The goal of this study is to determine if the Lactate Plus meter is accurate compared to lab lactate levels, and to determine if the Accu chek guide glucometer is accurate compared to lab serum glucose levels in patients with Glycogen Storage Disease Types Ia, Ib and XI. To determine this, patient's will have a one-time planned admission to Connecticut Children's for approximately 8 hours and receive hourly blood draws as well as finger-sticks.

Dietary Treatment Strategies and Metabolic Control in Glycogen Storage Disease Type I

The present project will specifically assess metabolic effects of dietary interventions with controlled intake of fructose and fructose/galactose in GSDI, with the aim to provide evidence whether relaxed dietary restrictions of fructose and galactose may be justified in treatment recommendations at least for adults, which would considerably enlarge food choice in everyday life of the patients with an expected positive impact on the quality of life of patients with this rare disorder.

Early Check: Expanded Screening in Newborns

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.