Farber Disease Natural History Study

NCT ID: NCT03233841

Last Updated: 2020-01-18

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 45 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-11-22
• Study Completion Date: 2019-12-09

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

Conditions

Farber Disease; Farber's Disease; Farber Lipogranulomatosis; Acid Ceramidase Deficiency; Ceramidase Deficiency; N-Laurylsphingosine Deacylase Deficiency; ASAH1 Mutation

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: OTHER

Study Groups

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).

No interventions assigned to this group

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).

No interventions assigned to this group

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).

No interventions assigned to this group

Eligibility 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).

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Sumitomo Pharma Switzerland GmbH

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

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)

Countries

United States; Argentina; Canada; Egypt; Germany; India; Italy; Sweden; Turkey (Türkiye)

References

Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep;41(9):1469-1487. doi: 10.1002/humu.24056. Epub 2020 Jun 24.

Reference Type: DERIVED

PMID: 32449975 (View on PubMed)

Related Links

http://www.enzyvant.com/

Related Info

Other Identifiers

RVT-801-0001

Identifier Type: -

Identifier Source: org_study_id