Glibenclamide Treatment for Cantú syndrome - Treatment of Cantú syndrome

Academic Medical Center Amsterdam0 个研究点目标入组 7 人开始时间: 2021年2月18日最近更新: 2021年6月7日

试验速览

暂无简介。

•In order to be eligible to participate in this study, a subject must meet all of the following criteria:
•1. As the majority of CS patients reveal a mutation in ABCC9 and we aim to create a homogenized study population, only, otherwise healthy, patients with a confirmed diagnosis of CS via molecular genetic testing, with a mutation in ABCC9 will be eligible.
•2. 16 years of age or older.
•3. No history of sulfonamides or thiazides allergies.
•Are the trial subjects under 18? yes
•Number of subjects for this age range: 1
•F.1.2 Adults (18-64 years) yes
•F.1.2.1 Number of subjects for this age range 6
•F.1.3 Elderly (>=65 years) no
•F.1.3.1 Number of subjects for this age range 0

•A potential subject who meets any of the following criteria will be excluded from participation in this study:
•1.All patients without a molecularly proven diagnosis of Cantú syndrome are excluded from this study.
•2.Patients with a history of a sulfonamides or thiazides allergy
•3.CS patients who are deemed poor candidates by the PI for the study based on additional medical concerns, not related to CS, including epilepsy, diabetes mellitus, intellectual deficit. As far as we are aware there are no cases in our cohort who are now suffering from additional medical concerns.
•4.Pregnant women.
•5.Patients with known G6PD deficiency.
•6.Patients with known chronic kidney or liver disease.

发起方

Academic Medical Center Amsterdam