- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03233841
Farber Disease Natural History Study
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
Study Overview
Status
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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CP
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Córdoba, CP, Argentina, 5000
- Hospital de Niños de La Santisima Trinidad
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Quebec
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Montreal, Quebec, Canada, H4A 3J1
- Montreal Children's Hospital
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Cairo, Egypt
- Cairo University
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Hessen
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Giessen, Hessen, Germany, 35392
- Universitätsklinikum Giessen, Zentrum für Kinderheilkunde und Jugendmedizin
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Dehli, India
- Lok Nayak Hospital & Maulana Azad Medical College
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Delhi, India
- Sir Ganga Ram Hospital
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Genoa, Italy
- IRCCS Istituto Giannina Gaslini
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Milan, Italy
- University of Milan
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Stockholm, Sweden
- Astrid Lindgrens barnsjukhus, Karolinska University Hospital Solna
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Adana, Turkey
- Cukurova University School of Medicine
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Ankara, Turkey
- Hacettepe University Medical Faculty Hospital
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Istanbul, Turkey
- Istanbul University Istanbul School of Medicine
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İzmir, Turkey
- Dokuz Eylul University School of Medicine
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California
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Oakland, California, United States, 94609
- UCSF Benioff Children's Hospital Oakland
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District of Columbia
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Washington, District of Columbia, United States, 20010
- Children's National Health System
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
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.
Exclusion Criteria:
• Current use or history of use in the past 30 days of an investigational agent (with exception of off-label use of medications).
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
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Living non-HSCT Farber Disease Patients
Patients with a confirmed diagnosis of Farber disease who are currently alive and have not undergone hematopoietic stem cell transplantation (HSCT).
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Living HSCT Farber Disease Patients
Patients with a confirmed diagnosis of Farber disease who are currently alive and have undergone hematopoietic stem cell transplantation (HSCT).
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Deceased Farber Disease Patients
Patients with a confirmed diagnosis of Farber disease who are deceased (including patients who may or may not have undergone hematopoietic stem cell transplantation).
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
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Establish a dataset on the natural history of Farber Disease
Time Frame: Up to 21 months
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Collection of information for all subjects will include data from:
Collection of information from living subjects will include:
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Up to 21 months
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Collaborators and Investigators
Sponsor
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
- Connective Tissue Diseases
- Observational Study
- Central Nervous System Diseases
- Musculoskeletal Diseases
- Natural History Study
- Lipid Metabolism Disorders
- Brain Diseases
- Metabolic Diseases
- Inborn Errors of Metabolism
- Lipidoses
- Retrospective Study
- Lysosomal Storage Disease
- Prospective Study
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Brain Diseases, Metabolic
- Farber Disease
- Farber's Disease
- ASAH1
- Subcutaneous Nodules
- Lysosomal Storage Disease, Nervous System
- Genetic Disease, Inborn
- Brain Diseases, Inborn
- Infant, Newborn Diseases
- Inherited Metabolic Disease
Additional Relevant MeSH Terms
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Lymphatic Diseases
- Genetic Diseases, Inborn
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Histiocytosis, Non-Langerhans-Cell
- Histiocytosis
- Erdheim-Chester Disease
- Farber Lipogranulomatosis
Other Study ID Numbers
- RVT-801-0001
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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