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The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber disease. All patients diagnosed with Farber disease are eligible, including both those who have and have not undergone hematopoietic stem cell transplantation (HSCT). Additionally, data and records from deceased patients will provide valuable retrospective data for this study.
The secondary objective of the study is to establish a set of clinical data, laboratory data (biomarkers), and functional data potentially useful for:
The exploratory objectives of the study are:
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Inclusion criteria
Living or deceased subjects with diagnosis of Farber disease, based on clinical (typical clinical symptoms) and biochemical and/or genetic criteria, as follows:
Informed consent or assent, for living subjects. For deceased subjects it is the responsibility of the principal investigator to ensure that the proper requirements are met according to local laws and regulations.
Exclusion criteria
• Current use or history of use in the past 30 days of an investigational agent (with exception of off-label use of medications).
45 participants in 3 patient groups
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Data sourced from clinicaltrials.gov
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