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
- 已完成
- 入组人数
- 45
- 试验地点
- 15
- 主要终点
- Establish a dataset on the natural history of Farber Disease
研究概览
简要总结
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
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •Current use or history of use in the past 30 days of an investigational agent (with exception of off-label use of medications).
结局指标
主要结局
Establish a dataset on the natural history of Farber Disease
时间窗: Up to 21 months
Collection of information for all subjects will include data from: * Medical history * Farber disease diagnosis, presentation, treatments and symptom progression Collection of information from living subjects will include: * Medical examination * Disease-specific data (Farber Disease Natural History Instrument - FDNI) * Laboratory tests (laboratory assessments and inflammatory markers) * Functional tests * Six-minute walk test (6MWT) * Pulmonary function testing * Additional assessments and evaluations: * Patient reported outcomes * Pain assessment * Relative impact of symptoms * Nodule Impact Questionnaire * Physician and Patient/Parent global assessment * Measurement and clinical characteristics of index nodules * Ultrasound evaluation of liver and spleen * High-frequency ultrasound
次要结局
未报告次要终点