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Farber Disease Natural History Study

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ClinicalTrials.gov Identifier: NCT03233841
Recruitment Status : Recruiting
First Posted : July 31, 2017
Last Update Posted : September 28, 2018
Sponsor:
Information provided by (Responsible Party):
Enzyvant Farber 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

Study Type : Observational
Estimated Enrollment : 40 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
Estimated Primary Completion Date : November 2019
Estimated Study Completion Date : November 2019


Group/Cohort
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.


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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.
Criteria

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


Contacts
Contact: Alexander Solyom, MD +41-78-700-0204 alex.solyom@enzyvant.com

Locations
United States, California
UCSF Benioff Children's Hospital Oakland Recruiting
Oakland, California, United States, 94609
Contact: Paul Harmatz    510-428-3058    pharmatz@mail.cho.org   
Contact: Nick Cantley    +1 (510)-428-3885 ext 7442    NCantley@mail.cho.org   
Principal Investigator: Paul Harmatz         
United States, District of Columbia
Children's National Health System Recruiting
Washington, District of Columbia, United States, 20010
Contact: Carlos Ferreira Lopez    202-476-6812    CFerreir@childrensnational.org   
Contact: Kathleen Crosby    +1 (202)-476-6812    kacrosby@childrensnational.org   
Principal Investigator: Carlos Ferreira Lopez         
Argentina
Hospital de Niños de la Santisima Trinidad Recruiting
Córdoba, CP, Argentina, 5000
Contact: Norberto Guelbert    (+54 351) 458-6400 ext 583    nguelbert@arnet.com.ar   
Contact: Guillermo Guelbert       gguelbert@gmail.com   
Principal Investigator: Norberto Guelbert         
Canada, Quebec
Montreal Children's Hospital Recruiting
Montreal, Quebec, Canada, H4A 3J1
Contact: John Mitchell    +1 (514)-412-4400 ext 22438    john.mitchell@muhc.mcgill.ca   
Contact: Arnaud Frederique    +1 (514)-934-1934 ext 67922    frederique.arnaud@muhc.mcgill.ca   
Principal Investigator: Johon Mitchell         
Egypt
Cairo University Recruiting
Cairo, Egypt
Contact: Laila Abdel Mottaleb Selim    002 0100 604 9054    laila.selim@kasralainy.edu.eg   
Principal Investigator: Laila Abdel Mottaleb Selim         
Germany
HELIOS Dr. Horst Schmidt Kliniken Wiesbaden Recruiting
Wiesbaden, Germany
Contact: Christina Lampe    (+49) 611 432314    christina.lampe@helios-gesundheit.de   
Principal Investigator: Christina Lampe         
India
Lok Nayak Hospital & Maulana Azad Medical College Recruiting
Dehli, India
Contact: Seema Kapoor    (+91) 11 23239417    drseemakapoor@gmail.com   
Principal Investigator: Seema Kapoor         
Sir Ganga Ram Hospital Recruiting
Delhi, India
Contact: Ratna Dua Puri    (+91) 11 42251996    ratnadpuri@yahoo.com   
Principal Investigator: Ratna Dua Puri         
Italy
IRCCS Istituto Giannina Gaslini Recruiting
Genoa, Italy
Contact: Maja DiRocco    (+39) 01056362794    majadirocco@gaslini.org   
Principal Investigator: Maja DiRocco         
University of Milan Recruiting
Milan, Italy
Contact: Marta Torcoletti    (+39) 3385651442    martatorcoletti@hotmail.it   
Principal Investigator: Marta Torcoletti         
Sweden
Astrid Lindgrens barnsjukhus, Karolinska University Hospital Solna Recruiting
Stockholm, Sweden
Contact: Bo Magnusson    (+46) 85 177 7297    bo.magnusson@sll.se   
Contact: Emma Mellgren       emma.mellgren@sll.se   
Principal Investigator: Bo Magnusson         
Turkey
Cukurova University School of Medicine Recruiting
Adana, Turkey
Contact: Halisa Neslihan Önenli Mungan    (+90) 5324834410    munganhno@gmail.com   
Principal Investigator: Halisa Neslihan Önenli Mungan         
Hacettepe University Medical Faculty Hospital Recruiting
Ankara, Turkey
Contact: Seza Ozen    (+90) 3123051863    sezaozen@gmail.com   
Principal Investigator: Seza Ozen         
Istanbul University Istanbul School of Medicine Recruiting
Istanbul, Turkey
Contact: Gülden Fatma Gökçay    (+90) 212 4142000 ext 31642    ghuner@istanbul.edu.tr   
Principal Investigator: Gülden Fatma Gökçay         
Dokuz Eylul University School of Medicine Recruiting
İzmir, Turkey
Contact: Nur Arslan    0090 232 412 6107    nur.arslan@deu.edu.tr   
Principal Investigator: Nur Arslan         
Sponsors and Collaborators
Enzyvant Farber GmbH

Additional Information:
Responsible Party: Enzyvant Farber GmbH
ClinicalTrials.gov Identifier: NCT03233841     History of Changes
Other Study ID Numbers: RVT-801-0001
First Posted: July 31, 2017    Key Record Dates
Last Update Posted: September 28, 2018
Last Verified: September 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Enzyvant Farber GmbH:
Natural History Study
Observational Study
Prospective Study
Retrospective Study
Farber Disease
Farber's Disease
ASAH1
Subcutaneous Nodules
Lysosomal Storage Disease
Lysosomal Storage Disease, Nervous System
Metabolic Diseases
Lipid Metabolism Disorders
Lipidoses
Sphingolipidoses
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:
Farber Lipogranulomatosis
Erdheim-Chester Disease
Sphingolipidoses
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Histiocytosis, Non-Langerhans-Cell
Histiocytosis
Lymphatic Diseases