Patients with diazoxide-unrefractory congenital hyperinsulinism
Conditions
Interventions
The admission examination will be conducted the day before PET probe administration, and the next day an 18F-DOPA PET/CT scan will be performed 1) synthesis and quality testing of the PET probe, 2) de
Sponsors
Takasawa Kei
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients who meet the diagnostic criteria for hyperinsulinemic hypoglycemia (hereinafter, the diagnostic criteria apply) A definitive diagnosis of hyperinsulinemic hypoglycemia is made when a blood sample taken when blood glucose is 1 micro U/mL Criterion 2: Blood glucose rise >30 mg/dL (15-45 minutes) with intramuscular injection (IV) of glucagon 0.5-1 mg Criterion 3: Intravenous glucose infusion dose to maintain euglycemia (mg/kg/min) >7 (under 6 months of age), 3-7 (over 6 months of age), >3 (adults) [Supplemental Findings] Blood 3-hydroxybutyrate (beta-hydroxybutyrate) <2 mmol/L (2000 micro mol/L) Blood free fatty acids (FFA, NEFA) <1.5 mmol/L (1.5 mEq/L) 2. Patients whose blood glucose control is unstable with diazoxide monotherapy 3. Patients with identified pathogenic polymorphisms in KATP-related genes (ABCC8, KCNJ11) 4. Patients aged 0 to 15 years at the time of consent 5. Patients for whom written consent has been obtained from the patient or guardian to participate in this clinical study
Exclusion criteria
Exclusion criteria: 1. Patients with amino acid hypersensitivity 2. Patients considered as unsuitable for participation in this study by the investigator
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The accuracy of 18F-DOPA PET/CT for the localization of diazoxide-unrefractory congenital hyperinsulinemia was evaluated using the final diagnosis based on secondary information obtained from clinical follow-up observations for 6 months from the day of first administration (Day 0), i.e., after localization diagnosis, as the reference standard | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Sensitivity 2. Specificity 3. Negative Predictive Value 4. Positive Predictive Value 5. Progression-Free Survival (PFS) 6. Quality of Life (PedsQL) 7. Genetic Testing and Consistency Assessment 8. Incidence of adverse events and malfunctions | — |
Contacts
Public ContactKei Takasawa
Institute of Science Tokyo Hospital
Outcome results
None listed