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.

Effects of the Carbohydrate Counting Method on Blood Glucose Regulation, Quality of Life, Urinary Glc4 and Other Biomarkers in Children With GSD1

The goal of the study is to investigate the effects of carbohydrate counting training-administered to pediatric patients diagnosed with GSD 1a and 1b-on blood glucose regulation, quality of life, urinary glucotetrasaccharide (Glc4) levels, and various biomarkers. The main questions it aims to answer are: * Is there a significant change in the urinary Glc4 parameter of patients diagnosed with GSD1 who employ the carbohydrate counting method? * Does the implementation of the carbohydrate counting method in the diets of patients diagnosed with GSD1 lead to a significant change in their quality of life? * Is there a significant change in the HbA1c (%) levels of patients diagnosed with GSD1 who practice the carbohydrate counting method? * Does the application of the carbohydrate counting method in the diets of patients diagnosed with GSD1 result in a significant change in the frequency of infections? Children aged 2-18 years diagnosed with GSD1 will be monitored for a period of 3 months; during this time, food consumption records and anthropometric measurements will be collected, retrospective analysis of continuous glucose monitoring sensor(CGMS) data will be conducted, and various questionnaires and rating scales will be completed both online and in person.

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.

Efficacy and Safety of Empagliflozin in GSD-Ib Patients

Empagliflozin Treatment of GSD-1b patients