A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias

ModernaTX, Inc.17 个研究点分布在 4 个国家目标入组 97 人开始时间: 2018年3月20日最近更新: 2021年8月2日

适应症

试验速览

阶段: 不适用
状态: 已完成
发起方: ModernaTX, Inc.
入组人数: 97
试验地点: 17
主要终点: Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients)

研究概览研究设计入排标准结局指标研究者研究点记录与标识符相似试验

研究概览

简要总结

Longitudinal, exploratory, natural history study of patients with MMA due to mut deficiency and PA to characterize the changes in blood disease biomarkers over time and the frequency and severity of clinical events related to their disease.

研究设计

研究类型: Observational
观察模型: Cohort
时间视角: Prospective

入排标准

性别: All
接受健康志愿者: 否

入选标准

•MMA Only • Patient has a confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) based on the following criteria:
•Elevated plasma/serum/DBS or urine methylmalonic acid levels
•Presence of normal serum/plasma vitamin B12 and plasma homocysteine levels
•Confirmed by molecular genetic testing. Genetic testing can be performed after the administration of informed consent if not available, however, molecular genetic results must be confirmed before the second study visit
•Patient has a confirmed diagnosis of isolated PA based on the following criteria:
•Elevated plasma/DBS/urine 2-MC and/or 3-HP
•Elevated plasma/serum/DBS propionylcarnitine (C3)
•Confirmed by genetic testing for mutations of the PCCA or PCCB genes. Genetic testing can be performed after the administration of informed consent if not available, however, molecular genetic results must be confirmed before the second study visit
•Both MMA and PA
•Patient (and/or legally authorized representative as applicable to local regulations) is willing and able to comply with study-related assessments and activities
•Patient or legally authorized representative is willing and able to provide informed consent and/or assent as mandated by local regulation

排除标准

•Estimated GFR <30 mL/min/1.73m2 based on age appropriate equations or patients who undergo chronic dialysis
•The patient is pregnant or lactating at the time of screening. (Note: Patients who become pregnant during the study may remain in the study) MMA Only
•Patients diagnosed with isolated MMA cblA, cblB, or cblD enzymatic subtypes or methylmalonyl-CoA epimerase deficiency or combined MMA with homocystinuria PA Only
•Patient has a confirmed diagnosis of multiple carboxylase deficiency