Farber DiseaseNCT03233841
Farber Disease Natural History Study
An observational study of Farber Disease and Farber's Disease, run by Sumitomo Pharma Switzerland GmbH at 15 sites in 9 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis
- How many people
- 45 participants
- Where
- 15 sitesin 9 countries
- Study dates
- 22 Nov 2017to 9 Dec 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Current use or history of use in the past 30 days of an investigational agent (with exception of off-label use of medications).
Trial locations and contacts
15 sites in 9 countries.
15 sites in 9 countries
Turkey (Türkiye)4 sites
Cukurova University School of Medicine
Adana
Hacettepe University Medical Faculty Hospital
Ankara
Istanbul University Istanbul School of Medicine
Istanbul
Dokuz Eylul University School of Medicine
Izmir
United States2 sites
UCSF Benioff Children's Hospital Oakland
Oakland, California, 94609
Children's National Health System
Washington D.C., District of Columbia, 20010
India2 sites
Lok Nayak Hospital & Maulana Azad Medical College
Dehli
Sir Ganga Ram Hospital
Delhi
Argentina1 site
Hospital de Niños de la Santisima Trinidad
Córdoba, CP, 5000
Germany1 site
Universitätsklinikum Giessen, Zentrum für Kinderheilkunde und Jugendmedizin
Giessen, Hesse, 35392
Sweden1 site
Astrid Lindgrens barnsjukhus, Karolinska University Hospital Solna
Stockholm
About this study
Official title: 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:
Read more
- 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
- Keywords
- 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
- Medical subject headings
- Farber Lipogranulomatosis, Lysosomal Storage Diseases, Neurologic Manifestations, Metabolic Diseases, Lipid Metabolism Disorders, Lipidoses, Sphingolipidoses, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish a dataset on the natural history of Farber Disease
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
Measured: Up to 21 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jul 2017
- Study start22 Nov 2017
- Primary completion12 Oct 2019
- Study completion9 Dec 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Farber DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 45 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sumitomo Pharma Switzerland GmbH
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03233841
- Sponsor's protocol ID
- RVT-801-0001
- Status last verified
- Jan 2020
- First submitted
- 26 Jul 2017
- Last updated
- 18 Jan 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 32449975
Study at a glance
From the registry record, last updated by the sponsor on 18 Jan 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease
- ClinicalTrials.gov ID
- NCT03233841
- Acronym / sponsor ID
- RVT-801-0001
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency, Ceramidase Deficiency, N-Laurylsphingosine Deacylase Deficiency
- Keywords
- Natural History Study, Observational Study, Prospective Study, Retrospective Study, Farber Disease, Farber's Disease, ASAH1, Subcutaneous Nodules
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 45 participants (actual)
- Lead sponsor
- Sumitomo Pharma Switzerland GmbHIndustry (pharma, biotech, devices)
- Study start
- 22 Nov 2017 (actual)
- Primary completion
- 12 Oct 2019 (actual)
- Study completion
- 9 Dec 2019 (actual)
- First posted
- 31 Jul 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- Living or deceased subjects with diagnosis of Farber disease, based on clinical (typical clinical symptoms) and biochemical and/or genetic criteria, as follows:
- 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.
Key exclusion criteria (1 listed)
- Current use or history of use in the past 30 days of an investigational agent (with exception of off-label use of medications).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jan 2020.
- Derived from this study: PubMed 32449975Elsea 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.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
15 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Farber Disease and Farber's Disease, run by Sumitomo Pharma Switzerland GmbH at 15 sites in 9 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Jan 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in Turkey (Türkiye), United States, India, Italy, Argentina and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establish a dataset on the natural history of Farber Disease (time frame: Up to 21 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03233841, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jan 2020.