Identifying the genetic background of neurological disorders related to the mitochondrial DNA repair pathway

Not Applicable

• 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

• Registration Number: CTRI/2024/03/063469
• Lead Sponsor: Sanjiban Chakrabarty

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 24 June 2024

Recruitment & Eligibility

• Status: Open to Recruitment
• Sex: Not specified
• Target Recruitment: 0

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

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
We aim to gain insights into the impact of disturbed DNA replication and repair on mitochondrial DNA maintenance, which could inform the development of targeted interventions to mitigate the effects of these conditions.Timepoint: We aim to gain insights into the impact of disturbed DNA replication and repair on mitochondrial DNA maintenance, which could inform the development of targeted interventions to mitigate the effects of these conditions:3 years. <br/ ><br>

Secondary Outcome Measures

Name	Time	Method
Contribution to poor brain & cognitive phenotype in an Indian patient cohort.Timepoint: Contribution to poor brain & cognitive phenotype in an Indian patient cohort:4years