Health Condition 1: null- Farber Disease
Conditions
Interventions
None listed
Sponsors
Enzyvant Farber GmbH
Eligibility
Inclusion criteria
Inclusion criteria: 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.
Exclusion criteria
Exclusion criteria: 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).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To establish the natural history of Farber disease, through collection and analysis of retrospective and prospective data on patients, including living patients who have and have not undergone hematopoietic stem cell transplantation (HSCT) and patients who are deceasedTimepoint: Baseline, Week 12 and Week 36 | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary objective of the study is to establish a set of clinical, laboratory (biomarkers), and functional data (from evaluations, procedures, and assessment tools)Timepoint: Baseline, Week 12 and Week 36 | — |
Countries
Argentina, Canada, Egypt, Germany, India, Italy, Sweden, Turkey, United States of America
Contacts
Public ContactAli Sajjad Bohra
QED Clinical Services India Pvt Ltd
Outcome results
None listed