Phase II clinical trial to evaluate the effectiveness and safety of acetazolamide in the treatment of cerebellar syndrome in patients with PMM2-CDG deficiency.

Fundació Sant Joan de Déu0 个研究点目标入组 30 人开始时间: 2017年4月7日最近更新: 2018年8月20日

适应症

试验速览

暂无简介。

•Patients with a molecular study confirming PMM2-CDG deficiency
•Age greater than 5 years (60 months) and younger than 21 years at baseline
•Normal renal function: serum creatinine: <45µmol / L (<6 years); <60µmol / L (7-10 years); <110µmol / L (> 11 years).
•Hepatic function with transaminases less than 5 times the upper reference limit * for the laboratory, thus remaining in the last analysis (1 year): ALT in serum: 2-30 IU / L (5-12 years); 2-38 IU / L (> 12 years).
•Informed consent signed by parents or legal guardians.
•Assent by patients over 12 and under 18 years
•Informed consent signed by patients over 18 years of age.
•Absence of treatments in the previous 30 days with drugs that can modify or artifact the study and that its effectiveness in cerebellar syndrome is not validly validated.
•No known hypersensitivity to the active substance or to any of the excipients.
•Are the trial subjects under 18? yes
•Number of subjects for this age range: 25
•F.1.2 Adults (18-64 years) yes
•F.1.2.1 Number of subjects for this age range 5
•F.1.3 Elderly (>=65 years) no
•F.1.3.1 Number of subjects for this age range

•Over 18 years at the beginning of the study.
•Co-morbid conditions: Kidney disease that contraindicates the use of acetazolamide, cardiac disease not compensated with the treatment.
•Other chronic or active acute diseases that under the criterion of the researcher were an exclusion criterion.
•Concomitant medication that has not been scientifically proven to improve neurological symptoms associated with cerebellar dysfunction
•Age less than 5 years (60 months) or greater than 21 years at the start of the study
•Altered renal function: serum creatinine:> 57µmol / L (<6 years); > 60µmol / L (7-10 years); > 80µmol / L (> 11 years).
•Hepatic function with transaminases greater than 5 times the upper limit of reference: serum ALT: 63-83 IU / L (5-9 years); 63-82 IU / L (9-12 years): 2-36 IU / L (> 12 years).
•Absence of informed consent signed by parents or legal guardians. Absence of informed consent signed by the patient himself / herself in people over 18 years of age.
•Treatments in the previous 30 days with drugs that can modify or artifact the study and that its effectiveness in cerebellar syndrome is not validly validated.
•Known hypersensitivity to the active substance or to any of the excipients.

发起方