| CTRI Number |
CTRI/2025/09/094170 [Registered on: 03/09/2025] Trial Registered Prospectively |
| Last Modified On: |
03/09/2025 |
| Post Graduate Thesis |
Yes |
| Type of Trial |
Observational |
|
Type of Study
|
Cohort Study |
| Study Design |
Other |
|
Public Title of Study
|
Genetic patterns and clinical features of Duchenne Muscular Dystrophy in children-A one year study |
|
Scientific Title of Study
|
Correlation of Genetic Spectrum of Children with Duchenne Muscular Dystrophy with Clinical Phenotype-A one-year Prospective Cohort study at a tertiary care centre |
| Trial Acronym |
NIL |
|
Secondary IDs if Any
|
| Secondary ID |
Identifier |
| NIL |
NIL |
|
|
Details of Principal Investigator or overall Trial Coordinator (multi-center study)
|
| Name |
Peddireddy Harsha Vardhana Reddy |
| Designation |
Post Graduate Student |
| Affiliation |
KLE s Dr Prabhakar kore hospital, Nehru Nagar,Belagavi |
| Address |
Department of Paediatrics
Jawaharlal Nehru Medical College
Belagavi Karnataka 590010
Belgaum KARNATAKA 590010 India |
| Phone |
8374105435 |
| Fax |
|
| Email |
peddireddyharsha77@gmail.com |
|
Details of Contact Person Scientific Query
|
| Name |
Dr Bhavana Koppad |
| Designation |
Associate Professor, Department of Paediatrics, Jawaharlal Nehru Medical College Belagavi |
| Affiliation |
Jawaharlal Nehru Medical College, Belagavi,Karnataka |
| Address |
Department of Paediatrics Jawaharlal Nehru Medical College, Belagavi, Karnataka 590010
Belgaum KARNATAKA 590010 India |
| Phone |
9986157763 |
| Fax |
|
| Email |
bhavana.d23@gmail.com |
|
Details of Contact Person Public Query
|
| Name |
Peddireddy Harsha Vardhana Reddy |
| Designation |
Post Graduate |
| Affiliation |
Jawaharlal Nehru Medical College, Belagavi,Karnataka |
| Address |
Department of Paediatrics Jawaharlal Nehru Medical College, Belagavi, Karnataka 590010
Belgaum KARNATAKA 590010 India |
| Phone |
8374105435 |
| Fax |
|
| Email |
peddireddyharsha77@gmail.com |
|
|
Source of Monetary or Material Support
|
| KLEs Dr Prabhakar Kore Hospital and Medical Research Centre, Belagavi, Karnataka 590010 |
|
|
Primary Sponsor
|
| Name |
Jawaharlal Nehru Medical College KLE university |
| Address |
Department of Paediatrics Jawaharlal Nehru Medical College Belagavi Karnataka 590010 |
| Type of Sponsor |
Private medical college |
|
|
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 Harsha vardhana reddy |
KLE s Dr Prabhakar Kore Hospital, |
Department of Paediatrics, Jawaharlal Nehru Medical College, Nehru Nagar, KLE Hospital Road,Belagavi,Karnataka Belgaum KARNATAKA |
8374105435
peddireddyharsha77@gmail.com |
|
|
Details of Ethics Committee
|
| No of Ethics Committees= 1 |
| Name of Committee |
Approval Status |
| JNMC INSTITUTIONAL ETHICS COMMITTEE |
Approved |
|
|
Regulatory Clearance Status from DCGI
|
|
|
Health Condition / Problems Studied
|
| Health Type |
Condition |
| Patients |
(1) ICD-10 Condition: G710||Muscular dystrophy, |
|
|
Intervention / Comparator Agent
|
| Type |
Name |
Details |
| Intervention |
Nil |
Nil |
| Intervention |
Nil |
Nil |
|
|
Inclusion Criteria
|
| Age From |
2.00 Year(s) |
| Age To |
17.00 Year(s) |
| Gender |
Both |
| Details |
Children diagnosed with Duchenne muscular dystrophy, either with MLPA or whole exome sequencing |
|
| ExclusionCriteria |
| Details |
Those children with DMD who are variant of unceratian significance(vus) nad have not provided consent for sanger sequencing |
|
|
Method of Generating Random Sequence
|
Not Applicable |
|
Method of Concealment
|
Not Applicable |
|
Blinding/Masking
|
Not Applicable |
|
Primary Outcome
|
| Outcome |
TimePoints |
| To correlate the genetic profile of children with DMD with the clinical phenotype |
The study will be conducted over a span of one year |
|
|
Secondary Outcome
|
| Outcome |
TimePoints |
| To study the genetic spectrum of children with DMD |
The study will be conducted over a span of one year |
|
|
Target Sample Size
|
Total Sample Size="41" Sample Size from India="41"
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)
|
15/09/2025 |
| 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="1" Months="0" Days="0" |
|
Recruitment Status of Trial (Global)
|
Not Applicable |
| Recruitment Status of Trial (India) |
Not Yet Recruiting |
|
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
|
Duchenne Muscular Dystrophy DMD is the most common and severe childhood muscular dystrophy affecting 1 in 3500 to 5000 boys. It is an X linked recessive disorder caused by mutations in the dystrophin gene located at Xp21.1 leading to absence of functional dystrophin protein. Affected children present with progressive muscle weakness delayed milestones and usually lose ambulation by adolescence followed by respiratory and cardiac complications. Genetic mutations are heterogeneous with deletions 60 to 65 percent most frequent followed by duplications and point mutations. Identifying mutation type is essential for diagnosis counseling and eligibility for emerging mutation specific therapies. This prospective cohort study at KLE Dr Prabhakar Kore Hospital Belagavi will enroll 41 genetically confirmed DMD patients over one year. Clinical evaluation motor milestones ambulation status muscle strength functional tests ECG spirometry will be correlated with genetic findings MLPA WES. The study aims to define the genetic spectrum and establish genotype phenotype correlations in North Karnataka to improve diagnosis and therapeutic access. |