An study to determine the changes in genes leading to abnormalities of cartilage and bone by using an advanced genetic technique.
Not Applicable
- Registration Number
- CTRI/2019/02/017631
- Lead Sponsor
- Kasturba Medical College Manipal
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Open to Recruitment
- Sex
- Not specified
- Target Recruitment
- 0
Inclusion Criteria
Subjects with clinical and radiological features suggestive of a skeletal dysplasia undergoing next generation sequencing, which would include:
i. Skeletal dysplasia without a definitive clinical diagnosis.
ii. Genetically heterogenous skeletal dysplasia.
iii. Skeletal dysplasia with relatively large target region in the genome.
Exclusion Criteria
Subjects with a skeletal dysplasia diagnosed by targeted genetic testing
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 1.Genomic profiling of Indian patients with skeletal dysplasia. <br/ ><br>2.Definition and expansion of skeletal dysplasia genes and phenotypes.Timepoint: 3 years
- Secondary Outcome Measures
Name Time Method Identifying the molecular diagnosis of a skeletal dysplasia helps in carrier testing and offering accurate genetic counselling to the affected family. <br/ ><br>Timepoint: 3 years