| CTRI Number |
CTRI/2022/07/043625 [Registered on: 01/07/2022] Trial Registered Prospectively |
| Last Modified On: |
30/06/2022 |
| Post Graduate Thesis |
Yes |
| Type of Trial |
Observational |
|
Type of Study
|
Follow Up Study |
| Study Design |
Single Arm Study |
|
Public Title of Study
|
A study to find the correlation between the variation in copy numbers of SMN 2 gene and clinical phenotypes of children with spinal muscular atrophy |
|
Scientific Title of Study
|
An observational study to find the correlation between the variation in copy numbers of Survival motor gene 2 and clinical phenotypes of children with spinomuscular atrophy |
| Trial Acronym |
|
|
Secondary IDs if Any
|
| Secondary ID |
Identifier |
| NIL |
NIL |
|
|
Details of Principal Investigator or overall Trial Coordinator (multi-center study)
|
| Name |
Mahantesh |
| Designation |
Post graduate, Department of Pediatrics |
| Affiliation |
SMS medical college |
| Address |
Pediatric Department,Rare disease division, room no
6/7, J K lon hospital
JLN marg, adarsh nagar, jaipur
JLN marg, Adarsh nagar, jaipur
Rajasthan
302016
Jaipur
RAJASTHAN
302004
India |
| Phone |
09900857179 |
| Fax |
|
| Email |
mahanteshpamankallur@gmail.com |
|
Details of Contact Person
Scientific Query
|
| Name |
Dr Priyanshu Mathur |
| Designation |
Associate professor |
| Affiliation |
SMS medical college |
| Address |
Department of Pediatrics, Rare disease division,room no 6/7, J K lon hospital
JLN marg, adarsh nagar, jaipur
JLN marg, adarsh nagar, jaipur
Rajasthan
302016
Jaipur
RAJASTHAN
302004
India |
| Phone |
09982451490 |
| Fax |
|
| Email |
priyanshu82@gmail.com |
|
Details of Contact Person
Public Query
|
| Name |
Mahantesh bukanatti |
| Designation |
Post graduate, Department of Pediatrics |
| Affiliation |
SMS medical college |
| Address |
Department of Pediatrics,Rare disease division, room no 6/7 J K lon hospital
JLN marg, adarsh nagar, jaipur
JLN marg, Adarsh nagar, jaipur
Rajasthan
302016
Jaipur
RAJASTHAN
302004
India |
| Phone |
09900857179 |
| Fax |
|
| Email |
mahanteshpamankallur@gmail.com |
|
|
Source of Monetary or Material Support
|
|
|
Primary Sponsor
|
| Name |
SMS Medical college jaipur |
| Address |
JLN marg adarsh nagar
Jaipur
302016 |
| Type of Sponsor |
Government 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 |
| DrPriyanshu Mathur |
Jk lon hospital |
Department of Pediatrics, Rare disease division, room no 6/7, Adarsh nagar, jaipur
302016
Jaipur
RAJASTHAN |
9982451490
priyanshu82@gmail.com |
|
|
Details of Ethics Committee
|
| No of Ethics Committees= 1 |
| Name of Committee |
Approval Status |
| Institutional ethics Committee |
Approved |
|
|
Regulatory Clearance Status from DCGI
|
|
|
Health Condition / Problems Studied
|
| Health Type |
Condition |
| Patients |
(1) ICD-10 Condition: G958||Other specified diseases of spinalcord, |
|
|
Intervention / Comparator Agent
|
|
|
Inclusion Criteria
|
| Age From |
1.00 Day(s) |
| Age To |
18.00 Year(s) |
| Gender |
Both |
| Details |
1.Diagnosed cases of SMA between age group from birth to 18 years |
|
| ExclusionCriteria |
| Details |
1.Associated other neurological, muscular and genetic diseases
2.Age more than 18 years
3.Those who give negative consent
4.Already on treatment |
|
|
Method of Generating Random Sequence
|
Not Applicable |
|
Method of Concealment
|
Not Applicable |
|
Blinding/Masking
|
Not Applicable |
|
Primary Outcome
|
| Outcome |
TimePoints |
| To assess the Correlation between the copy number variation of SMN2 gene and the clinical phenotypes of Spinal muscular atrophy (SMA) patients |
During 1 year follow up |
|
|
Secondary Outcome
|
| Outcome |
TimePoints |
| To assess the prognosis and to aid in genetic counselling |
1 year |
|
|
Target Sample Size
|
Total Sample Size="30"
Sample Size from India="30"
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)
|
01/07/2022 |
| 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 Yet Recruiting |
| Recruitment Status of Trial (India) |
Not Yet Recruiting |
|
Publication Details
|
Nil |
|
Individual Participant Data (IPD) Sharing Statement
|
Will individual participant data (IPD) be shared publicly (including data dictionaries)?
Response - NO
|
|
Brief Summary
|
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder caused by mutations of SMN1 gene. It is characterised by significant phenotype variability. In this study we analyse phenotypic modifiers of the disease such as copy number variation of SMN2 gene. This study will also be helpful for prognosis prediction and genetic counselling. |