Study of autoinflammatory diseases in India

Not yet recruiting

Conditions: healthy relatives of patients
Other specified disorders involving the immune mechanism, not elsewhere classified,

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

Recruitment & Eligibility

Inclusion Criteria

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.
Individuals with undefined periodic fevers characterised by recurrent attacks of fever with a temperature of at least 38.5Â°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.

Exclusion Criteria

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.

Primary Outcome Measures

Name	Time	Method
- Genomic landscape of autoinflammatory diseases in India will be unraveled	-At the end of each year \| -Recruitment will be completed by the end of year 4
- Novel gene disease associations may be discovered	-At the end of each year \| -Recruitment will be completed by the end of year 4
- 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
- Systematic documentation of phenotypes of autoinflammatory diseases	-At the end of each year \| -Recruitment will be completed by the end of year 4

Secondary Outcome Measures

Name	Time	Method
- Development of a cost effective NGS based panel testing for autoinflammatory diseases in India.	- Potential impact on therapeutic strategies for treatment of autoinflammatory diseases.

Locations (1): Kasturba Medical College
🇮🇳
Udupi, KARNATAKA, India
Kasturba Medical College
🇮🇳Udupi, KARNATAKA, India
Dr Dhanya Lakshmi N
Principal investigator
9695548555
dhanya.lakshmi@manipal.edu