CTRI/2024/03/063469
Recruiting
未知
Delineating the genomic basis of neurodegeneration and mitochondrial disorders associated with defective DNA break repair - NI
Sanjiban Chakrabarty0 sites0 target enrollmentTBD
Overview
- Phase
- 未知
- Intervention
- Not specified
- Conditions
- Health Condition 1: G300- Alzheimers disease with early onsetHealth Condition 2: G309- Alzheimers disease, unspecifiedHealth Condition 3: G31- Other degenerative diseases of nervous system, not elsewhere classifiedHealth Condition 4: G328- Other specified degenerative disorders of nervous system in diseases classified elsewhere
- Sponsor
- Sanjiban Chakrabarty
- Status
- Recruiting
- Last Updated
- last year
Overview
Brief Summary
No summary available.
Investigators
Eligibility Criteria
Inclusion Criteria
- •1\. Individuals with clinical features, radiological findings, and biochemical analysis suggestive of a mitochondrial disorder using Mitochondrial Disease Criteria(Score more than 5\).
- •2\. Clinical presentation – Motor developmental delay, myopathy, dystonia, ataxia, seizures, exercise intolerance, spasticity, growth failure, hearing and vision impairment, cardiomyopathy, gastrointestinal issues.
Exclusion Criteria
- •1\. Individuals having a score of less than 5 utilizing mitochondrial disease criteria(MDC) regardless of age of onset or presentation.
- •2\. Participate with non\-genetic disorders, such as autoimmune or inflammatory infections, endocrine or hypoxic insults in the neonatal period, medications, or toxins exposure
Outcomes
Primary Outcomes
Not specified
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