| CTRI Number |
CTRI/2024/03/063469 [Registered on: 01/03/2024] Trial Registered Prospectively |
| Last Modified On: |
02/06/2024 |
| Post Graduate Thesis |
No |
| Type of Trial |
Observational |
|
Type of Study
|
Cross Sectional Study |
| Study Design |
Other |
|
Public Title of Study
|
Identifying the genetic background of neurological disorders related to the mitochondrial DNA repair pathway |
|
Scientific Title of Study
|
Delineating the genomic basis of neurodegeneration and mitochondrial disorders associated with defective DNA break repair |
| Trial Acronym |
NIL |
|
Secondary IDs if Any
|
| Secondary ID |
Identifier |
| IEC1:78/2023 |
NIL |
|
|
Details of Principal Investigator or overall Trial Coordinator (multi-center study)
|
| Name |
Dr Sanjiban Chakrabarty |
| Designation |
Associate Professor |
| Affiliation |
Manipal School of Life Sciences |
| Address |
2nd floor,Department of cell and molecular biology,Manipal School of Life Sciences,MAHE,Manipal,Karnataka,India
Udupi
KARNATAKA
576104
India |
| Phone |
9986297508 |
| Fax |
0 |
| Email |
sanjiban.c@manipal.edu |
|
Details of Contact Person
Scientific Query
|
| Name |
Dr Sanjiban Chakrabarty |
| Designation |
Associate Professor |
| Affiliation |
Manipal School of Life Sciences |
| Address |
2nd floor,Department of cell and molecular biology,Manipal School of Life Sciences,MAHE,Manipal,Karnataka,India
Udupi
KARNATAKA
576104
India |
| Phone |
9986297508 |
| Fax |
0 |
| Email |
sanjiban.c@manipal.edu |
|
Details of Contact Person
Public Query
|
| Name |
Dr Sanjiban Chakrabarty |
| Designation |
Associate Professor |
| Affiliation |
Manipal School of Life Sciences |
| Address |
2nd floor,Department of cell and molecular biology,Manipal School of Life Sciences,MAHE,Manipal,Karnataka,India
Udupi
KARNATAKA
576104
India |
| Phone |
9986297508 |
| Fax |
0 |
| Email |
sanjiban.c@manipal.edu |
|
|
Source of Monetary or Material Support
|
| Department of Health
Research (DHR), India. |
| Manipal School of Life Science, MAHE, Manipal |
|
|
Primary Sponsor
|
| Name |
Sanjiban Chakrabarty |
| Address |
2nd floor, Department of Cell and Molecular Biology Manipal School of Life Sciences Manipal Academy of Higher Education Manipal 576104 Karnataka, INDIA Office: 91 820 2922058, Mobile: 9986297508 |
| Type of Sponsor |
Other [Self] |
|
|
Details of Secondary Sponsor
|
|
|
Countries of Recruitment
|
India |
|
Sites of Study
|
| No of Sites = 1 |
| Name of Principal
Investigator |
Name of Site |
Site Address |
Phone/Fax/Email |
| Dr Sanjiban Chakrabarty |
Manipal School of Life Sciences |
2nd floor, Department of cell and molecular biology, Manipal School of Life Sciences, MAHE, MANIPAL, KARNATAKA, INDIA
Udupi
KARNATAKA |
09986297508
0
sanjiban.c@manipal.edu |
|
|
Details of Ethics Committee
|
| No of Ethics Committees= 1 |
| Name of Committee |
Approval Status |
| Kasturba Medical College and Kasturba Hospital Institutional Ethics Committee |
Approved |
|
|
Regulatory Clearance Status from DCGI
|
|
|
Health Condition / Problems Studied
|
| Health Type |
Condition |
| Patients |
(1) ICD-10 Condition: G300||Alzheimers disease with early onset, (2) ICD-10 Condition: G309||Alzheimers disease, unspecified, (3) ICD-10 Condition: G31||Other degenerative diseases of nervous system, not elsewhere classified, (4) ICD-10 Condition: G328||Other specified degenerative disorders of nervous system in diseases classified elsewhere, |
|
|
Intervention / Comparator Agent
|
| Type |
Name |
Details |
| Intervention |
NIL |
NIL |
| Comparator Agent |
NIL |
NIL |
|
|
Inclusion Criteria
|
| Age From |
1.00 Month(s) |
| Age To |
65.00 Year(s) |
| Gender |
Both |
| Details |
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. |
|
| ExclusionCriteria |
| Details |
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 |
|
|
Method of Generating Random Sequence
|
Not Applicable |
|
Method of Concealment
|
Not Applicable |
|
Blinding/Masking
|
Not Applicable |
|
Primary Outcome
|
| Outcome |
TimePoints |
| 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. |
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 Outcome
|
| Outcome |
TimePoints |
| Contribution to poor brain & cognitive phenotype in an Indian patient cohort. |
Contribution to poor brain & cognitive phenotype in an Indian patient cohort:4years |
|
|
Target Sample Size
|
Total Sample Size="20"
Sample Size from India="20"
Final Enrollment numbers achieved (Total)= "Applicable only for Completed/Terminated trials"
Final Enrollment numbers achieved (India)="Applicable only for Completed/Terminated trials" |
|
Phase of Trial
|
N/A |
|
Date of First Enrollment (India)
|
10/03/2024 |
| Date of Study Completion (India) |
Applicable only for Completed/Terminated trials |
| Date of First Enrollment (Global) |
Date Missing |
| Date of Study Completion (Global) |
Applicable only for Completed/Terminated trials |
|
Estimated Duration of Trial
|
Years="3"
Months="0"
Days="0" |
Recruitment Status of Trial (Global)
Modification(s)
|
Not Applicable |
| Recruitment Status of Trial (India) |
Open to Recruitment |
|
Publication Details
|
N/A |
|
Individual Participant Data (IPD) Sharing Statement
|
Will individual participant data (IPD) be shared publicly (including data dictionaries)?
Response - NO
|
|
Brief Summary
|
In postmitotic tissues with high functioning and transcriptional activity, such as the brain and skeletal muscles, maintenance of mitochondrial DNA (mtDNA) is essential for energy production. On the other hand, little is known about how mitochondrial functions in people with neurological diseases are affected by deficiencies in DNA repair. Dysfunctions in DNA repair pathways have been linked to neurodegeneration, aging, and the ability to respond to treatment interventions such as radiation therapy and chemotherapy. The goal of the proposed program is to identify the genes that cause the mutations that affect mitochondrial function and are linked to the maintenance of mitochondrial DNA in a group of Indian patients who have cognitive and cerebral impairments. It is expected that the functional analysis of pathogenic mutations will aid in the creation of disease models, improving the accuracy of diagnosis and developing treatment plans specific to the Indian populace.
|