Farber Disease Natural History Study

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

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Key information

Conditions

Farber Disease ASAH1 Mutation Acid Ceramidase Deficiency Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Ceramidase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Farber Lipogranulomatosis Farber's Disease Genetic Diseases, Inborn Infant, Newborn, Diseases Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Musculoskeletal Diseases N-Laurylsphingosine Deacylase Deficiency Nervous System Diseases Neurologic Manifestations Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms Skin and Connective Tissue Diseases Sphingolipidoses

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital de Niños de la Santisima Trinidad, Córdoba, CP, Argentina

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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).

Treatment and study plan

Primary outcomes

Establish a dataset on the natural history of Farber Disease

Time frame: 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

Sponsors and collaborators

Lead sponsor

Sumitomo Pharma Switzerland GmbH

Industry

Registry information

Official study title

Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease

Important dates

Study start: 2017
Primary completion: 2019
Study completion: 2019
First posted: Jul 31, 2017
Registry last updated: Jan 18, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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