Farber Disease Natural History Study

Completed

Conditions studied: Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency, Ceramidase Deficiency, N-Laurylsphingosine Deacylase Deficiency, ASAH1 Mutation

In brief

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

Key facts

Study ID

NCT03233841

Run by

Sumitomo Pharma Switzerland GmbH

People needed

45

Starts

2017-11-22

Expected to finish

2019-12-09

Last updated by the study team

2020-01-18

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• Current use or history of use in the past 30 days of an investigational agent (with exception of off-label use of medications).

Where it is running

• UCSF Benioff Children's Hospital Oakland — Oakland, California, United States
• Children's National Health System — Washington D.C., District of Columbia, United States
• Hospital de Niños de la Santisima Trinidad — Córdoba, CP, Argentina
• Montreal Children's Hospital — Montreal, Quebec, Canada
• Cairo University — Cairo, Egypt
• Universitätsklinikum Giessen, Zentrum für Kinderheilkunde und Jugendmedizin — Giessen, Hesse, Germany
• Lok Nayak Hospital & Maulana Azad Medical College — Dehli, India
• Sir Ganga Ram Hospital — Delhi, India
• IRCCS Istituto Giannina Gaslini — Genoa, Italy
• University of Milan — Milan, Italy
• Astrid Lindgrens barnsjukhus, Karolinska University Hospital Solna — Stockholm, Sweden
• Cukurova University School of Medicine — Adana, Turkey (Türkiye)
• Hacettepe University Medical Faculty Hospital — Ankara, Turkey (Türkiye)
• Istanbul University Istanbul School of Medicine — Istanbul, Turkey (Türkiye)
• Dokuz Eylul University School of Medicine — Izmir, Turkey (Türkiye)

Full record on ClinicalTrials.gov

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