| CTRI Number |
CTRI/2021/08/035958 [Registered on: 26/08/2021] Trial Registered Prospectively |
| Last Modified On: |
10/06/2021 |
| Post Graduate Thesis |
No |
| Type of Trial |
Observational |
|
Type of Study
|
Cohort Study |
| Study Design |
Other |
|
Public Title of Study
|
Study of autoinflammatory diseases in India |
|
Scientific Title of Study
|
Understanding autoinflammatory disorders through clinical, genomic and functional approaches |
| Trial Acronym |
|
|
Secondary IDs if Any
|
| Secondary ID |
Identifier |
| NIL |
NIL |
|
|
Details of Principal Investigator or overall Trial Coordinator (multi-center study)
|
| Name |
Dr Dhanya Lakshmi N |
| Designation |
Associate Professor |
| Affiliation |
Kasturba Medical College |
| Address |
Department of Medical Genetics
Kasturba Medical College,
Manipal
Madhav Nagar
Manipal
Udupi
KARNATAKA
576104
India |
| Phone |
|
| Fax |
|
| Email |
dhanya.lakshmi@manipal.edu |
|
Details of Contact Person
Scientific Query
|
| Name |
Dr Dhanya Lakshmi N |
| Designation |
Associate Professor |
| Affiliation |
Kasturba Medical College |
| Address |
Department of Medical Genetics
Kasturba Medical College,
Manipal
Madhav Nagar
Manipal
KARNATAKA
576104
India |
| Phone |
|
| Fax |
|
| Email |
dhanya.lakshmi@manipal.edu |
|
Details of Contact Person
Public Query
|
| Name |
Dr Dhanya Lakshmi N |
| Designation |
Associate Professor |
| Affiliation |
Kasturba Medical College |
| Address |
Department of Medical Genetics
Kasturba Medical College,
Manipal
Madhav Nagar
Manipal
KARNATAKA
576104
India |
| Phone |
|
| Fax |
|
| Email |
dhanya.lakshmi@manipal.edu |
|
|
Source of Monetary or Material Support
|
| DBT Wellcome trust India Alliance
DBT/Wellcome Trust India Alliance
Nishant House, 8-2-351/N/1, 2nd floor, Road No. 2, Venkateshwara Hills, Banjara Hills, Hyderabad - 500034 |
|
|
Primary Sponsor
|
| Name |
Dr Dhanya Lakshmi N |
| Address |
Associate professor
Kasturba Medical college
Manipal |
| Type of Sponsor |
Other [Principal investigator] |
|
|
Details of Secondary Sponsor
|
|
|
Countries of Recruitment
|
India |
|
Sites of Study
|
| No of Sites = 1 |
| Name of Principal
Investigator |
Name of Site |
Site Address |
Phone/Fax/Email |
| Dr Dhanya Lakshmi N |
Kasturba Medical College |
Department of Medical genetics
Ground floor
Women and child hospital
Madhav Nagar
Manipal
Udupi
KARNATAKA |
9695548555
dhanya.lakshmi@manipal.edu |
|
|
Details of Ethics Committee
|
| No of Ethics Committees= 1 |
| Name of Committee |
Approval Status |
| Kasturba Medical College and Kasturba hospital |
Approved |
|
|
Regulatory Clearance Status from DCGI
|
|
|
Health Condition / Problems Studied
|
| Health Type |
Condition |
| Healthy Human Volunteers |
healthy relatives of patients |
| Patients |
(1) ICD-10 Condition: D898||Other specified disorders involving the immune mechanism, not elsewhere classified, |
|
|
Intervention / Comparator Agent
|
| Type |
Name |
Details |
| Comparator Agent |
NIL |
NIL |
|
|
Inclusion Criteria
|
| Age From |
0.00 Day(s) |
| Age To |
80.00 Year(s) |
| Gender |
Both |
| Details |
1. Individuals who fulfill the clinical diagnostic criteria for a specific autoinflammatory disease
2. Individuals with clinical features like recurrent fever, oral ulcers, non- infectious osteolytic lesions, synovitis, arthritis or rash and elevated inflammatory markers like C reactive protein (CRP) and Erythrocyte Sedimentation Rate (ESR) or family history suggestive of a monogenic autoinflammatory disease.
3. Individuals with undefined periodic fevers characterised by recurrent attacks of fever with a temperature of at least 38.5°C (axillary) for a period of at least 6 months, associated with increased acute phase reactants during the episodes and normal clinical and laboratory features in between attacks and not fulfilling the inclusion criteria for PFAPA, MKD, FMF, TRAPS, CAPS where other causes of recurrent fever are excluded |
|
| ExclusionCriteria |
| Details |
1. Individuals with malignancy
2. Individuals with infection, sepsis or any other medical condition, which would warrant exclusion in the opinion of a clinical immunologist/ clinical geneticist |
|
|
Method of Generating Random Sequence
|
Not Applicable |
|
Method of Concealment
|
Not Applicable |
|
Blinding/Masking
|
Not Applicable |
|
Primary Outcome
|
| Outcome |
TimePoints |
- Systematic documentation of phenotypes of autoinflammatory diseases
- Genomic landscape of autoinflammatory diseases in India will be unraveled
- Novel gene disease associations may be discovered
- Improved genetic diagnosis, clinical care and genetic counseling for families |
-At the end of each year
-Recruitment will be completed by the end of year 4 |
|
|
Secondary Outcome
|
| Outcome |
TimePoints |
- Development of a cost effective NGS based panel testing for autoinflammatory diseases in India.
- Potential impact on therapeutic strategies for treatment of autoinflammatory diseases.
|
5 years |
|
|
Target Sample Size
|
Total Sample Size="150"
Sample Size from India="150"
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)
|
01/09/2021 |
| 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="0"
Months="0"
Days="0" |
|
Recruitment Status of Trial (Global)
|
Not Applicable |
| Recruitment Status of Trial (India) |
Not Yet Recruiting |
|
Publication Details
|
NA |
|
Individual Participant Data (IPD) Sharing Statement
|
Will individual participant data (IPD) be shared publicly (including data dictionaries)?
Response - NO
|
|
Brief Summary
|
Autoinflammatory diseases have been reported from all parts of India. Large-scale studies with systematic phenotyping and genotyping of patients with autoinflammatory diseases in India are lacking. However, a few case reports with novel genetic variants in some of the autoinflammatory diseases have been published from India in the recent past. This illustrates the need for systematic phenotyping and methodical characterization of these disorders in Indian population. 1. Investigate the clinical profiles and phenotypic spectrum of autoinflammatory disorders 2. Decipher the genomic landscape of monogenic autoinflammatory disorders 3. Understand the mechanisms by which genetic alterations contribute to autoinflammatory disorders |