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Farber Disease Natural History Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03233841
Recruitment Status : Completed
First Posted : July 31, 2017
Last Update Posted : January 18, 2020
Information provided by (Responsible Party):
Enzyvant Therapeutics GmBH

Brief Summary:

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

Condition or disease
Farber Disease Farber's Disease Farber Lipogranulomatosis Acid Ceramidase Deficiency Ceramidase Deficiency N-Laurylsphingosine Deacylase Deficiency ASAH1 Mutation

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Study Type : Observational
Actual Enrollment : 45 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease
Actual Study Start Date : November 22, 2017
Actual Primary Completion Date : October 12, 2019
Actual Study Completion Date : December 9, 2019

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).
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).
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).

Primary Outcome Measures :
  1. 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

Biospecimen Retention:   Samples With DNA
Whole blood will be retained.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All identified patients with Farber disease, living or deceased, diagnosed by biochemical or genetic criteria, or both, are eligible for inclusion in the study without regard to any other baseline or demographic characteristics. Both subjects who have undergone HSCT and those who have not are eligible to participate.

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).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03233841

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United States, California
UCSF Benioff Children's Hospital Oakland
Oakland, California, United States, 94609
United States, District of Columbia
Children's National Health System
Washington, District of Columbia, United States, 20010
Hospital de Niños de la Santisima Trinidad
Córdoba, CP, Argentina, 5000
Canada, Quebec
Montreal Children's Hospital
Montreal, Quebec, Canada, H4A 3J1
Cairo University
Cairo, Egypt
Universitätsklinikum Giessen, Zentrum für Kinderheilkunde und Jugendmedizin
Giessen, Hessen, Germany, 35392
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
Hacettepe University Medical Faculty Hospital
Ankara, Turkey
Istanbul University Istanbul School of Medicine
Istanbul, Turkey
Dokuz Eylul University School of Medicine
İzmir, Turkey
Sponsors and Collaborators
Enzyvant Therapeutics GmBH
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Enzyvant Therapeutics GmBH
ClinicalTrials.gov Identifier: NCT03233841    
Other Study ID Numbers: RVT-801-0001
First Posted: July 31, 2017    Key Record Dates
Last Update Posted: January 18, 2020
Last Verified: January 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Enzyvant Therapeutics GmBH:
Natural History Study
Observational Study
Prospective Study
Retrospective Study
Farber Disease
Farber's Disease
Subcutaneous Nodules
Lysosomal Storage Disease
Lysosomal Storage Disease, Nervous System
Metabolic Diseases
Lipid Metabolism Disorders
Genetic Disease, Inborn
Musculoskeletal Diseases
Connective Tissue Diseases
Central Nervous System Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases, Inborn
Brain Diseases
Infant, Newborn Diseases
Inborn Errors of Metabolism
Inherited Metabolic Disease
Additional relevant MeSH terms:
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Farber Lipogranulomatosis
Erdheim-Chester Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Histiocytosis, Non-Langerhans-Cell
Lymphatic Diseases