| CTRI Number |
CTRI/2018/03/012336 [Registered on: 05/03/2018] Trial Registered Prospectively |
| Last Modified On: |
15/02/2018 |
| Post Graduate Thesis |
No |
| Type of Trial |
Observational |
|
Type of Study
|
Cross Sectional Study |
| Study Design |
Other |
|
Public Title of Study
|
Observational and Cross-Sectional Natural History Study for Farber Disease |
|
Scientific Title of Study
|
Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease |
| Trial Acronym |
|
|
Secondary IDs if Any
|
| Secondary ID |
Identifier |
| NIL |
NIL |
|
|
Details of Principal Investigator or overall Trial Coordinator (multi-center study)
|
| Name |
Dr Ratna Puri |
| Designation |
Senior Consultant |
| Affiliation |
Institute of Medical Genetics & Genomics Sir Gangaram Hospital |
| Address |
Sir Ganga Ram Hospital
Rajinder Nagar
New Delhi
New Delhi
DELHI
110060
India |
| Phone |
|
| Fax |
|
| Email |
ratnadpuri@yahoo.com |
|
Details of Contact Person
Scientific Query
|
| Name |
Ali Sajjad Bohra |
| Designation |
Director |
| Affiliation |
QED Clinical Services India Pvt Ltd |
| Address |
Clinical Operations, QED Clinical Services, B-209, Westgate, Beside YMCA Club S G Highway Ahmedabad
Ahmadabad
GUJARAT
380015
India |
| Phone |
|
| Fax |
|
| Email |
asbohra@qed-clinical.com |
|
Details of Contact Person
Public Query
|
| Name |
Ali Sajjad Bohra |
| Designation |
Director |
| Affiliation |
QED Clinical Services India Pvt Ltd |
| Address |
Clinical Operations, QED Clinical Services, B209, Westgate, Beside YMCA Club S G Highway Ahmedabad
Ahmadabad
GUJARAT
380015
India |
| Phone |
|
| Fax |
|
| Email |
asbohra@qed-clinical.com |
|
|
Source of Monetary or Material Support
|
| Enzyvant Farber GmbH, Viaduktstrasse 8, 4051 Basel, Switzerland |
|
|
Primary Sponsor
|
| Name |
Enzyvant Farber GmbH |
| Address |
Viaduktstrasse 8, 4051 Basel, Switzerland |
| Type of Sponsor |
Pharmaceutical industry-Global |
|
|
Details of Secondary Sponsor
|
|
|
Countries of Recruitment
|
Argentina
Canada
Egypt
Germany
India
Sweden
Turkey
United States of America
Italy |
|
Sites of Study
|
| No of Sites = 1 |
| Name of Principal
Investigator |
Name of Site |
Site Address |
Phone/Fax/Email |
| Dr Ratna Puri |
Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital |
Rajinder Nagar
New Delhi
DELHI |
01125861767
ratnadpuri@yahoo.com |
|
|
Details of Ethics Committee
|
| No of Ethics Committees= 1 |
| Name of Committee |
Approval Status |
| SGRH Ethics Committee |
Approved |
|
|
Regulatory Clearance Status from DCGI
|
|
|
Health Condition / Problems Studied
|
| Health Type |
Condition |
| Patients |
Farber Disease, |
|
|
Intervention / Comparator Agent
|
|
|
Inclusion Criteria
|
| Age From |
1.00 Year(s) |
| Age To |
60.00 Year(s) |
| Gender |
Both |
| Details |
INCL 1. Living or deceased subjects with diagnosis of Farber disease, based on clinical (diagnosis by a physician based on typical clinical symptoms) and biochemical and/or genetic criteria, as follows:
c. 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.
a. 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.
INCL 2. Informed consent or assent, for living subjects. For deceased subjects it is the responsibility of the PI to ensure that the proper requirements are met according to local laws and regulations. |
|
| ExclusionCriteria |
| Details |
Potential subjects fulfilling the following criterion are not eligible for participation in the study.
EXCL 1. Current use or history of use in past 30 days of an investigational agent (does not include off-label use of medications). |
|
|
Method of Generating Random Sequence
|
Not Applicable |
|
Method of Concealment
|
Not Applicable |
|
Blinding/Masking
|
Not Applicable |
|
Primary Outcome
|
| Outcome |
TimePoints |
| To establish the natural history of Farber disease, through collection and analysis of retrospective and prospective data on patients, including living patients who have and have not undergone hematopoietic stem cell transplantation (HSCT) and patients who are deceased |
Baseline, Week 12 and Week 36 |
|
|
Secondary Outcome
|
| Outcome |
TimePoints |
| The secondary objective of the study is to establish a set of clinical, laboratory (biomarkers), and functional data (from evaluations, procedures, and assessment tools) |
Baseline, Week 12 and Week 36 |
|
|
Target Sample Size
|
Total Sample Size="32"
Sample Size from India="4"
Final Enrollment numbers achieved (Total)= "Applicable only for Completed/Terminated trials"
Final Enrollment numbers achieved (India)="Applicable only for Completed/Terminated trials" |
|
Phase of Trial
|
N/A |
|
Date of First Enrollment (India)
|
15/03/2018 |
| Date of Study Completion (India) |
Applicable only for Completed/Terminated trials |
| Date of First Enrollment (Global) |
Date Missing |
| Date of Study Completion (Global) |
Applicable only for Completed/Terminated trials |
|
Estimated Duration of Trial
|
Years="1"
Months="0"
Days="0" |
|
Recruitment Status of Trial (Global)
|
Not Applicable |
| Recruitment Status of Trial (India) |
Not Yet Recruiting |
|
Publication Details
|
None |
|
Individual Participant Data (IPD) Sharing Statement
|
Will individual participant data (IPD) be shared publicly (including data dictionaries)?
|
|
Brief Summary
|
Farber disease (FD) is a rare lysosomal storage disease with a variable spectrum of severity and organ system pathology resulting from a deficiency of the enzyme acid ceramidase, and the accumulation of the lipid substrate, ceramide. Ceramide is a pro-inflammatory and pro-apoptotic lipid, which has been implicated in the pathogenesis of cartilage disorders. Approximately 100 patients with Farber disease have been reported in the medical literature to date, and multiple disease types are recognized. No reliable information on incidence and prevalence is available. This is the first formal study of the natural history of Farber disease through collection and analysis of retrospective and prospective data on patients confirmed as having Farber disease, obtained from patient history, clinical, laboratory, genetic and functional studies, and review of medical records, using a standardized data collection tool specifically created for this purpose (the Farber Disease Natural History Instrument). Living patients who have and have not undergone HSCT, and patients since deceased, will be included in the study. The data from this natural history study will serve as an opportunity to assess the procedures, techniques, and methodologies for evaluation of specific symptoms and signs of Farber disease, to help establish their utility in measuring potential endpoints in future clinical trials.. The data collected will potentially inform the selection of endpoints in future clinical trials.
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