Table 1.
Overview of Data Elements Collected in the Monogenic Diabetes Registry
| 1. History of diabetes diagnosis (initial collection only, priority for verification by original medical record) |
| Date of birth/date of diagnosis/transient/permanent/ongoing |
| Circumstances/symptoms/doctor/hospital at diagnosis |
| Details of any autoantibody or C-peptide testing ever done |
| Clinical/laboratory characteristics at diagnosis (hemoglobin A1c/ glucose/pH/bicarbonate levels) |
| 2. Other medical history (initial collection, with updates through interval survey) |
| Race/ethnicity/possible consanguinity |
| Birth weight/length/gestational age |
| Other possibly associated problems (with narrative detail): poor weight gain or growth concerns; developmental delay; speech problems; learning disorders or difficulties; hearing or visual problems; seizures or neurological problems; obesity, overweight, rapid, or abnormal weight gain; early or late puberty; concerns about heart function; high blood pressure; high cholesterol; kidney abnormalities; liver problems; neuropathies; autoimmune disease; anemia; abnormality of the pancreas; thyroid problems; macroglossia; umbilical hernia; recurrent infections; other medical problems (with description) |
| Family history of diabetes/prediabetes/other medical problems |
| 3. Comprehensive history of genetic testing |
| All commercial-based genetic testing reports collected |
| Data from research testing also collected, including variants of uncertain significance |
| Tracking of sample storage, quality, and results from collaborators |
| 4. Current treatment (initial and repeat interval collection) |
| Current weight/height/hemoglobin A1c |
| Hypoglycemia history, including frequency/severity/description |
| Diabetic ketoacidosis history |
| Details of current or previous insulin regimen and/or any other treatments, including sulfonylureas |
| Current problems possibly related to sulfonylureas: diarrhea/upset stomach/vomiting; weight loss or poor weight gain; abnormal or rapid weight gain, overweight or obesity; yellowing of the teeth; any type of rash; lowering of white blood cell or other cell counts; elevation of liver enzymes; ischemic heart disease/angina/heart arrhythmia; kidney or electrolyte problems; other problems (with description) |
| 5. Eleven questions on diabetes-specific quality of life (initial and interval survey) |