Ceramidase Deficiency Clinical Trial
Official title:
Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease
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:
- Assessing the efficacy of HSCT and the efficacy of potential future therapies (for
example with RVT-801, recombinant human acid ceramidase) in Farber disease
- Characterizing changes in symptoms of patients over time
- Characterizing distinct groups (phenotypes) within the patient population
- Documenting the disease histories of individual patients to serve as intra-subject
control data for those who may enroll in any future clinical studies with therapies for
Farber disease
The exploratory objectives of the study are:
- To explore the relationship between patient disease activity or phenotype and specific
ceramide levels or specific immunologic markers (cytokines/chemokines) in blood
- To evaluate a standardized tool, the Farber Disease Natural History Instrument (FDNI),
to be used for the collection of patient history information, data from clinical,
laboratory, genetic, and functional studies, and data from review of medical records
n/a
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Withdrawn |
NCT02298634 -
Biomarker for Farber Disease (BioFarber)
|