Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 32
- 试验地点
- 1
- 主要终点
- 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 deceased
研究概览
简要总结
Farber disease (FD) is a rare lysosomal storage disease with a variable spectrum of severity and organ system pathology resulting from a deficiency of the enzyme acid ceramidase, and the accumulation of the lipid substrate, ceramide. Ceramide is a pro-inflammatory and pro-apoptotic lipid, which has been implicated in the pathogenesis of cartilage disorders.
Approximately 100 patients with Farber disease have been reported in the medical literature to date, and multiple disease types are recognized. No reliable information on incidence and prevalence is available.
This is the first formal study of the natural history of Farber disease through collection and analysis of retrospective and prospective data on patients confirmed as having Farber disease, obtained from patient history, clinical, laboratory, genetic and functional studies, and review of medical records, using a standardized data collection tool specifically created for this purpose (the Farber Disease Natural History Instrument). Living patients who have and have not undergone HSCT, and patients since deceased, will be included in the study.
The data from this natural history study will serve as an opportunity to assess the procedures, techniques, and methodologies for evaluation of specific symptoms and signs of Farber disease, to help establish their utility in measuring potential endpoints in future clinical trials.. The data collected will potentially inform the selection of endpoints in future clinical trials.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 1.00 Year(s) 至 60.00 Year(s)（—）
- 性别
- All
入选标准
- •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.
- •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 PI to ensure that the proper requirements are met according to local laws and regulations.
排除标准
- •Potential subjects fulfilling the following criterion are not eligible for participation in the study.
- •Current use or history of use in past 30 days of an investigational agent (does not include off-label use of medications).
结局指标
主要结局
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 deceased
时间窗: Baseline, Week 12 and Week 36
次要结局
- The secondary objective of the study is to establish a set of clinical, laboratory (biomarkers), and functional data (from evaluations, procedures, and assessment tools)(Baseline, Week 12 and Week 36)