Table 2.
Important clinical details about patients included in this retrospective study
| Patient no. | Group | Sex | Type of LD, if applicable, and treatment | Genetic test details if applicable for LD group | Summary of background therapy changes during study period | Other details on oral hypoglycemic use |
|---|---|---|---|---|---|---|
| 1 | LD | Male | FPLD type 1, DM, liraglutide | WES performed, negative for known LD genes, interesting variant being studied, brother of patient 11 | Basal insulin decreased from 30 units b.i.d. to just once a day | Taking empagliflozin 25 mg. Never had exposure to TZDs |
| 2 | LD | Female | FPLD type 1, DM, semaglutide* | WES at UM negative, in RADIANT study | TDD insulin decreased from 2,000 to 1,000 units | Taking metformin 1,000 mg b.i.d. Was treated with TZDs in the distant past |
| 3# | LD | Female | FPLD type 1, DM, high-dose dulaglutide | LD panel by Blueprint negative, referred to RADIANT study | TDD insulin decreased from 300 units in a pump to only basal (Tresiba; Novo Nordisk) 60 units | Was treated with TZDs in the distant past |
| 4 | LD | Female | FPLD type 1, DM, semaglutide | LD panel by Blueprint negative; considering RADIANT study | Background therapy stayed stable (metformin and 36 units of basal insulin) | No TZD exposure |
| 5 | LD | Female | FPLD type 1, DM, liraglutide | WES in-house is negative for LD genes | Stopped all insulin (25 units Levemir) | No TZD exposure. Taking stable doses of topiramate and metformin chronically |
| 6 | LD | Female | FPLD type 1, DM, semaglutide | Genetic testing not covered by insurance; in RADIANT study | Stopped all insulin (TDD 40 basal + bolus) | Used TZDs in the distant past; metformin 1,000 mg b.i.d. |
| 7 | LD | Female | FPLD type 1, DM, semaglutide | Genetic testing by WES negative so far, referral to RADIANT study | On insulin pump, TDD insulin decreased from 85 to 22 units | Metformin 1,000 mg b.i.d. Was in a metreleptin study in the distant past (FHA101). No TZD exposure in the past |
| 8 | LD | Female | FPLD type 1, DM, high-dose dulaglutide | Genetic testing by Blueprint panel negative, referral to RADIANT study | TDD insulin decreased from 1,200 to 250 units in a pump. | Uses metformin 1,000 mg b.i.d. Took pioglitazone in the distant past |
| 9 | LD | Female | FPLD type 1, DM, high-dose dulaglutide | Genetic testing by Blueprint panel negative, referral to RADIANT study | Stopped all insulin (∼100 units in basal + bolus) | Takes acarbose 50 mg t.i.d. and dapagliflozin 10 mg daily. No TZD exposure |
| 10 | LD | Female | FPLD type 2, DM, semaglutide* | LMNA R482 W variant, part of a large pedigree | Insulin in pump decreased from 277 units to <80 units daily | Took pioglitazone for years, stopped because of fractures. Treated with metreleptin in a study and discontinued because of cirrhosis. Takes empagliflozin 25 mg daily (sees a bone specialist for IV bisphosphonate therapy and vitamin D) |
| 11 | LD | Male | FPLD type 1, DM, semaglutide PO only | WES performed, negative for known LD genes, interesting variant being studied, brother of patient 1 | Insulin decreased from 60 units basal to 24 units | Takes empagliflozin 25 mg. Metformin 1,000 mg b.i.d. TZD exposure in the distant past |
| 12 | LD | Female | FPLD type 1, DM, semaglutide* | WES performed, negative for known LD genes, RADIANT study referral made | Insulin dose decreased from 1,200 units to 400 units (uses U500) | Metformin 1,000 mg b.i.d. Empagliflozin 10 mg only (25 mg resulted in UTIs). TZD exposure in the distant past |
| 13 | LD | Male | FPLD type 1, DM, semaglutide | WES performed by GenDx identified an interesting variant on WNT10A gene; functional follow-up in progress | No other DM treatment was used | Intolerant of many other diabetes and lipid-lowering medications |
| 14# | LD | Female | FPLD type 1, DM, dulaglutide | University of Chicago Genetics Laboratory LD panel negative, WES done in-house identified an interesting variant; functional follow-up in progress | Lantus 42 units daily switched to 15 units b.i.d.; meal insulin stopped | Took Jardiance in the past, which resulted in AKI. Limited exposure to TZDs in the distant past |
| 15 | DM | Male | T2DM, semaglutide | Not applicable | No significant change on background medication | Metformin 1,000 mg b.i.d.; empagliflozin 25 mg daily |
| 16 | DM | Female | T2DM, liraglutide | No significant change on background medication | Metformin 1,000 mg b.i.d. | |
| 17 | DM | Male | T2DM, semaglutide | No significant change on background medication | Basal + bolus insulin; metformin 1,000 mg b.i.d.; empagliflozin 25 mg b.i.d. | |
| 18 | DM | Female | T2DM, semaglutide* | No significant change on background medication | Metformin 1,000 mg b.i.d. | |
| 19 | DM | Female | T2DM, semaglutide PO | No significant change on background medication | Metformin 1,000 mg b.i.d.; empagliflozin 25 mg daily | |
| 20 | DM | Female | T2DM, semaglutide | No significant change on background medication | Metformin 1,000 mg b.i.d. | |
| 21 | DM | Male | T2DM, semaglutide* | No significant change on background medication | Metformin 1,000 mg b.i.d. | |
| 22 | DM | Female | T2DM, dulaglutide | No significant change on background medication | Metformin 1,000 mg b.i.d. | |
| 23 | DM | Female | T2DM, liraglutide | No significant change on background medication | Metformin 1,000 mg b.i.d.; dapagliflozin 10 mg daily | |
| 24 | DM | Male | T2DM, semaglutide | No significant change on background medication | Basal + bolus insulin; metformin 1,000 mg b.i.d.; Jardiance 25 mg daily; glipizide 10 mg b.i.d. | |
| 25 | DM | Female | T2DM, liraglutide | No significant change on background medication | Basal + bolus insulin; empagliflozin 25 mg daily; glipizide 10 mg b.i.d. | |
| 26 | DM | Female | T2DM, liraglutide | No significant change on background medication | Basal + bolus insulin; empagliflozin 25 mg daily; metformin 1,000 b.i.d. | |
| 27 | DM | Female | T2DM, liraglutide | No significant change on background medication | Basal + bolus insulin; empagliflozin 25 mg daily; metformin 1,000 b.i.d. | |
| 28 | DM | Female | T2DM, semaglutide* | No significant change on background medication | Metformin 1,000 mg b.i.d.; dapagliflozin 10 mg |
AKI, acute kidney injury; IV, intravenous; PO, by mouth; RADIANT, Rare and Atypical Diabetes Network; TDD, total daily dose; TZD, thiazolidinedione; UM, University of Michigan; UTI, urinary tract infection; WES, whole-exome sequencing.
#Has previous history of acute pancreatitis and also developed pancreatitis during the next 12 months after this study period.
*Has been able to receive semaglutide 2.0 or 2.4 mg every week.