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CTRI Number  CTRI/2025/01/078864 [Registered on: 16/01/2025] Trial Registered Prospectively
Last Modified On: 27/12/2024
Post Graduate Thesis  Yes 
Type of Trial  Observational 
Type of Study   Familial study 
Study Design  Other 
Public Title of Study   Uncovering genetic causes for familial cases of female infertility disorders. 
Scientific Title of Study   Uncovering Genetic Causes for Familial Cases of Female Infertility Disorders 
Trial Acronym  NIL 
Secondary IDs if Any  
Secondary ID  Identifier 
NIL  NIL 
 
Details of Principal Investigator or overall Trial Coordinator (multi-center study)  
Name  ADITI GUPTA 
Designation  ASSISTANT PROFESSOR 
Affiliation  Kasturba Medical College, Manipal 
Address  Division of Reproductive Genetics Department of Reproductive Science Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal- 576104, Karnataka, India

Udupi
KARNATAKA
576104
India 
Phone  9810676622  
Fax    
Email  aditi.g@manipal.edu  
 
Details of Contact Person
Scientific Query  
Name  LIYA E JOSHY 
Designation  PhD Scholar 
Affiliation  Kasturba Medical College, Manipal 
Address  Division of Reproductive Genetics Department of Reproductive Science Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal- 576104, Karnataka, India

Udupi
KARNATAKA
576104
India 
Phone  9526827733  
Fax    
Email  liya.kmcmpl2024@learner.manipal.edu  
 
Details of Contact Person
Public Query  
Name  ADITI GUPTA 
Designation  ASSISTANT PROFESSOR 
Affiliation  Kasturba Medical College, Manipal 
Address  Division of Reproductive Genetics Department of Reproductive Science Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal- 576104, Karnataka, India


KARNATAKA
576104
India 
Phone  9810676622  
Fax    
Email  aditi.g@manipal.edu  
 
Source of Monetary or Material Support  
Manipal Academy of Higher Education, Manipal- 576104, Karnataka, India 
 
Primary Sponsor  
Name  Manipal Academy of Higher Education 
Address  Manipal Academy of Higher Education Manipal- 576104, Karnataka, India  
Type of Sponsor  Research institution and hospital 
 
Details of Secondary Sponsor  
Name  Address 
NIL  NIL 
 
Countries of Recruitment     India  
Sites of Study  
No of Sites = 2  
Name of Principal Investigator  Name of Site  Site Address  Phone/Fax/Email 
Dr Aditi Gupta  Kasturba Medical College Manipal  Division of Reproductive Genetics, Department of Reproductive Sciences, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal- 576104, Karnataka, India
Udupi
KARNATAKA 		 9810676622

aditi.g@manipal.edu 
Dr Prashanth Adiga  Kasturba Medical College Manipal  Department of Reproductive Medicine, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal- 576104, Karnataka, India
Udupi
KARNATAKA 		 9035036832

prashanth.adiga@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  
Status 
Not Applicable 
 
Health Condition / Problems Studied  
Health Type  Condition 
Healthy Human Volunteers  controls 
Patients  (1) ICD-10 Condition: N809||Endometriosis, unspecified,  
 
Intervention / Comparator Agent  
Type  Name  Details 
Intervention  NIL  NIL 
Comparator Agent  NIL  NIL 
 
Inclusion Criteria  
Age From  12.00 Year(s)
Age To  80.00 Year(s)
Gender  Both 
Details  The study participants will include endometriosis patients and their affected and unaffected family members who have consented to be included in the study. The study participants will include women who have attained menarche, irrespective of their age.

1. Patients with clinical diagnosis of endometriosis based on medical examination or via diagnostic imaging using ultrasound.
2. Patients having a family history of endometriosis with at least one affected family member.
3. Unaffected family members of patients diagnosed with endometriosis. 
 
ExclusionCriteria 
Details  Patients with no family history will be excluded 
 
Method of Generating Random Sequence   Not Applicable 
Method of Concealment   Not Applicable 
Blinding/Masking   Not Applicable 
Primary Outcome  
Outcome  TimePoints 
The discovery of novel genetic variants causative for this disorder could significantly impact the understanding of familial endometriosis. If such disease-causing mutations are identified, they may help in early diagnosis of other affected family members who may also have inherited these variants, thus helping them be better prepared to manage the condition.

 		 Three years 
 
Secondary Outcome  
Outcome  TimePoints 
This study will identify novel genes for endometriosis, further help understand the biology of the disease, and facilitate the development of diagnostics and therapeutics in the future.  Three years 
 
Target Sample Size   Total Sample Size="25"
Sample Size from India="25" 
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)   03/02/2025 
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="3"
Months="0"
Days="0" 
Recruitment Status of Trial (Global)   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 - YES
  1. What data in particular will be shared?
    Response - Individual participant data that underlie the results reported in this article, after de-identification (text, tables, figures, and appendices).

  2. What additional supporting information will be shared?
    Response -  Study Protocol
    Response -  Statistical Analysis Plan
    Response - Informed Consent Form
    Response - Clinical Study Report
    Response -  Analytic Code

  3. Who will be able to view these files?
    Response - Anyone

  4. For what types of analyses will this data be available?
    Response - Any purpose.

  5. By what mechanism will data be made available?
    Response (Others) -  Publication

  6. For how long will this data be available start date provided 01-01-2028 and end date provided 01-01-2058?
    Response - Immediately following publication. No end date.

  7. Any URL or additional information regarding plan/policy for sharing IPD? 
    Additional Information - NIL
Brief Summary  

Endometriosis has a multifactorial etiology involving many genetic and environmental factors. Endometriosis is a complex disorder and its pathogenesis is said to be polygenic, involving many immune, angiogenic, and biochemical pathways. However, familial cases of severe endometriosis have been reported in literature, (Buggio et al., 2014; Zharkin et al., 2018) and various studies have pointed towards familial aggregation, indicating monogenic causes for the disease. (Kim et al., 2021; Nousiainen et al., 2023; Albertsen et al., 2019)

 

Based on literature where mendelian inheritance patterns for familial occurrence of endometriosis have been proposed, such as above, it appears that a substantial number of cases of endometriosis may have a monogenic cause and exploring such familial cases would yield novel insights and help identify single genes as potential causes of endometriosis.

 
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