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Center for Rare Disease Diagnosis, Research and Training

Center for Rare Disease Diagnosis, Research and Training

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
CTRI
Registry ID
CTRI/2021/12/038519
Enrollment
1500
Registered
2021-12-08
Start date
Unknown
Completion date
Unknown
Last updated
2022-02-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: Q00-Q99- Congenital malformations, deformations and chromosomal abnormalities

Interventions

None listed

Sponsors

DBT Wellcome Trust India Alliance
Lead Sponsor

Eligibility

Inclusion criteria

Inclusion criteria: Individuals of any age and of both genders with a possible genetic disorder can be a part of the study

Exclusion criteria

Exclusion criteria: Individuals with acquired conditions or multifactorial diseases

Design outcomes

Primary

MeasureTime frame
1. Establishment of local clinical cohort of about 1200-1500 patients with rare diseases. 2. Genomic profiles of 1500-2000 individuals will serve as a local reference population dataset. 3. Generation of a comprehensive set of transgenic lines, reagents and tools for the creation of models. 4. Improved diagnosis and care for patients with rare diseases. 5. Creation of a trained manpower poolTimepoint: 5 YEARS—

Secondary

MeasureTime frame
1.Generation of a comprehensive set of transgenic lines, reagents and tools for the creation of models. 2. Improved diagnosis and care for patients with rare diseases. 3. Creation of a trained manpower poolTimepoint: 5 years—

Countries

India

Contacts

Public ContactDr Girisha KM

Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal

girish.katta@manipal.edu9743489467

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 4, 2026