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

Delineating the genomic basis of neurodegeneration and mitochondrial disorders associated with defective DNA break repair - NIL

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
CTRI
Registry ID
CTRI/2024/03/063469
Enrollment
20
Registered
2024-03-01
Start date
Unknown
Completion date
Unknown
Last updated
2024-06-24

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

Conditions

Health Condition 1: G300- Alzheimers disease with early onset Health Condition 2: G309- Alzheimers disease, unspecified Health Condition 3: G31- Other degenerative diseases of nervous system, not elsewhere classified Health Condition 4: G328- Other specified degenerative disorders of nervous system in diseases classified elsewhere

Interventions

Intervention1: NIL: NIL Control Intervention1: NIL: NIL

Sponsors

Sanjiban Chakrabarty
Lead Sponsor

Eligibility

Inclusion 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

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

Design outcomes

Primary

MeasureTime frame
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.—

Secondary

MeasureTime frame
Contribution to poor brain & cognitive phenotype in an Indian patient cohort.Timepoint: Contribution to poor brain & cognitive phenotype in an Indian patient cohort:4years—

Countries

India

Contacts

Public ContactDr Sanjiban Chakrabarty

Manipal School of Life Sciences

sanjiban.c@manipal.edu9986297508

Outcome results

None listed

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