Status:
COMPLETED
Farber Disease Natural History Study
Lead Sponsor:
Sumitomo Pharma Switzerland GmbH
Conditions:
Farber Disease
Farber's Disease
Eligibility:
All Genders
Brief Summary
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 pati...
Eligibility Criteria
Inclusion
- Living or deceased subjects with diagnosis of Farber disease, based on clinical (typical clinical symptoms) and biochemical and/or genetic criteria, as follows:
- 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.
- 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.
- 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
- • Current use or history of use in the past 30 days of an investigational agent (with exception of off-label use of medications).
Key Trial Info
Start Date :
November 22 2017
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 9 2019
Estimated Enrollment :
45 Patients enrolled
Trial Details
Trial ID
NCT03233841
Start Date
November 22 2017
End Date
December 9 2019
Last Update
January 18 2020
Active Locations (15)
Enter a location and click search to find clinical trials sorted by distance.
1
UCSF Benioff Children's Hospital Oakland
Oakland, California, United States, 94609
2
Children's National Health System
Washington D.C., District of Columbia, United States, 20010
3
Hospital de Niños de la Santisima Trinidad
Córdoba, CP, Argentina, 5000
4
Montreal Children's Hospital
Montreal, Quebec, Canada, H4A 3J1