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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  
Name  Address 
NIL  NIL 
 
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  
Status 
Not Applicable 
 
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.

 
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