Ben Rhaiem Ines, Beltrand Jacques, Vermillac Gaëlle, Kariyawasam Dulanjalee, Geraud Delphine, Besançon Alix, Godot Cécile, Berdugo Marianne, Bonnard Adeline Alice, Cavé Hélène, Nivot-Adamiak Sylvie, Saade Marie Béatrice, Ribault Virginie, Baron Sabine, Petit-Bibal Cécile, Dalla-Vale Fabienne, Bourdet Karine, Morin Carole, Donzeau Aurélie, Gueorguieva Iva, Souchon Pierre-François, Nicolino Marc, Barat Pascal, Coutant Régis, Perge Kevin, Polak Michel
Pediatric Endocrinology, Gynecology, and Diabetology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, ENDO-ERN (European Reference Network) and PRISIS French National Rare Disorder Centre (Rare Disorders of Insulin Secretion and Sensitivity), 75015 Paris, France.
Université Paris Cité, 75006 Paris, France.
J Endocr Soc. 2025 May 9;9(7):bvaf083. doi: 10.1210/jendso/bvaf083. eCollection 2025 Jul.
Neonatal diabetes mellitus (NDM) is a rare condition usually related to an identifiable genetic cause. Sulfonylurea therapy can ensure metabolic control, obviating the need for insulin while also improving neurodevelopmental outcomes. An oral glyburide suspension (OGS; AMGLIDIA) designed for pediatric use was introduced recently to eliminate the drawbacks of using crushed tablets.
To evaluate the long-term effectiveness and safety of the OGS for NDM.
Retrospective cohort study.
Fifteen centers in France.
Consecutive patients started on OGS for NDM in 2015 through 2024.
OGS therapy.
Glycated hemoglobin (HbA1c) values during OGS therapy; growth; and serious adverse events.
Of 27 patients, 22 had mutations, 4 had mutations, and 1 had a 6q24 anomaly. Median follow-up during OGS therapy was 2.7 years (range, 2 months-9 years). At baseline, median HbA1c was 6.5% (5.8-7.9) overall and 6.5%, 6.4%, and 8.9% in the , , and 6q24 subgroups, respectively. The median starting glyburide dose was 0.15 mg/kg/day (range, 0.1-0.185). HbA1c decreased nonsignificantly over time in all subgroups ( = .382), prompting in a small OGS dosage decrease. The last recorded HbA1c value was 6.3%, 5.9%, and 7.4% in the , , and 6q24 subgroups, respectively. Serious adverse events were rare, with hypoglycemia in 2 patients during periods of decreased food intake and diarrhea in 1 patient.
The OGS was effective in maintaining excellent metabolic control in the long term. The safety profile was good. The OGS should be considered for the first-line treatment of NDM.
新生儿糖尿病（NDM）是一种罕见病症，通常与可识别的遗传原因相关。磺脲类药物治疗可确保代谢控制，无需使用胰岛素，同时还能改善神经发育结局。最近推出了一种专为儿科设计的口服格列本脲混悬液（OGS；AMGLIDIA），以消除使用压碎片剂的缺点。
评估OGS治疗NDM的长期有效性和安全性。
回顾性队列研究。
法国的15个中心。
2015年至2024年开始使用OGS治疗NDM的连续患者。
OGS治疗。
OGS治疗期间的糖化血红蛋白（HbA1c）值；生长情况；以及严重不良事件。
27例患者中，22例有 突变，4例有 突变，1例有6q24异常。OGS治疗期间的中位随访时间为2.7年（范围为2个月至9年）。基线时，总体中位HbA1c为6.5%（5.8 - 7.9）， 、 和6q24亚组分别为6.5%、6.4%和8.9%。格列本脲起始中位剂量为0.15 mg/kg/天（范围为0.1 - 0.185）。所有亚组的HbA1c随时间均无显著下降（ = 0.382），促使少量减少OGS剂量。 、 和6q24亚组最后记录的HbA1c值分别为6.3%、5.9%和7.4%。严重不良事件罕见，2例患者在食物摄入量减少期间出现低血糖，1例患者出现腹泻。
OGS长期有效维持了良好的代谢控制。安全性良好。OGS应被视为NDM的一线治疗药物。
