Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease

Enzyvant Farber GmbH0 个研究点目标入组 0 人开始时间: 待定最近更新: 2021年11月24日

试验速览

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•INCL 1. Living or deceased subjects with diagnosis of Farber disease, based on clinical (diagnosis by a physician based on typical clinical symptoms) and biochemical and/or genetic criteria, as follows:
•c. Biochemical: An acid ceramidase activity value in white blood cells, cultured skin fibroblasts or other biological sources (e.g., plasma) that is less than 30% of control (normal) values established by the testing laboratory. For deceased subjects only, storage of ceramide in cells from histopathologic sections is also adequate to confirm the diagnosis.
•a. Genetic: Nucleotide changes within both alleles of the acid ceramidase gene (ASAH1) or cDNA that indicate, through bioinformatics, gene expression studies, or other methods, a possible loss of function of the acid ceramidase protein.
•INCL 2. Informed consent or assent, for living subjects. For deceased subjects it is the responsibility of the PI to ensure that the proper requirements are met according to local laws and regulations.

•Potential subjects fulfilling the following criterion are not eligible for participation in the study.
•EXCL 1. Current use or history of use in past 30 days of an investigational agent (does not include off-label use of medications).

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