Phenylbutyrate Therapy in Mitochondrial Disease with lactic acidosis: an opel label clinical trial in MELAS and PHD deficiency patients - PHEMI

FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA0 个研究点目标入组 9 人开始时间: 2021年5月20日最近更新: 2021年8月30日

适应症

试验速览

暂无简介。

•The inclusion criteria are:
•1.Age between 3 and 65 years old
•2.Confirmed molecular diagnosis: mutations in PDHA1 and m.3 243A>G mtDNA point mutation
•3.Plasma lactic acid =2100 umol/l (normal value . 580-2100)
•4.Availability of brain MRI and MRSI at baseline (pre-treatment);
•5.Availability of PDH residual activity in cultured fibroblasts in PDH1A patients at baseline (pre-treatment)
•6.Written informed consent (and assent when applicable) obtained from subject or subject’s legal representative and ability for subject to comply with the requirements of the study.
•Are the trial subjects under 18? yes
•Number of subjects for this age range:
•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) yes
•F.1.3.1 Number of subjects for this age range 1

•The exclusion criteria will be:
•1) Comorbidity with other chronic diseases.
•2)Other experimental treatment in the previous 6 months.
•3)Pregnant, breastfeeding, or unwilling to practice birth control during participation in the study
•4)At Screening, the estimated glomerular filtration rate (eGFR) < 30 mL/min/1.73 m2.
•5)At Screening presence of history of liver failure.
•6)Subject has undergone an in-patient hospitalization within the 30 days prior to the Baseline Visit or has a planned hospitalization or a surgical procedure during the trial.
•7)Subject has a history of active substance abuse during the year before the Baseline Visit, in the opinion of the Investigator.
•8)Subject has any prior or current medical condition that, would prevent the subject from safely participating in and/or completing all trial requirements .
•9) The patient will be excluded from the study if he presents a hart insufficiency ( FE < 40% ) severe renal failure (GRF GFR between 29 and 15 ml/min) clinical conditions in which sodium retention is found with edema, fructose intolerance, glucose / galactose malabsorption or saccharose or isomaltase enzyme deficiencies.
•10)Hypersensitivity to the drug or to the excipients.
•11)Not able to obtain written informed consent (and assent when applicable) from subject or subject’s legal representative and ability for subject to comply with the requirements of the study.

发起方