Reproductive and Perinatal Health Initiative

Participate in Research

The Reproductive Health Initiative is vital to this TSC community for many reasons but most especially due to limited data around pregnancy & perinatal healthcare. My belief is the RPH will promote healthy pregnancy outcomes with multidisciplinary collaboration & community outreach. Our role in rare disease is advocacy & progress. Here we go!”

Danielle Clark, MPH, RD, Adult Resource Lead

 

The Reproductive and Perinatal Health (RPH) Initiative focuses on identifying key priorities associated with complications that may occur during pregnancy. Although guidelines for pediatric and adult surveillance and management already exist for TSC, clear recommendations are lacking for individuals with TSC and/or LAM during pregnancy. By focusing on these gaps, the TSC Alliance RPH Initiative aims to establish clinical care recommendations for maternal-fetal care.   

One important aspect of the RPH initiative is to learn about a family’s experience with TSC before and during pregnancy through a series of short surveys. These surveys capture real-world experiences to provide a road map to better inform and educate the community and healthcare providers about TSC reproductive care.  The information gained contributes to our goal of improving maternal-fetal health in TSC and LAM. Below you will find our active community surveys as well as a summary of the results of previous surveys. 

Community Surveys

Have you been pregnant with a child diagnosed with tuberous sclerosis complex (TSC)?
The TSC Alliance, in collaboration with Duke University’s TSC Center of Excellence, has launched a research study comparing pregnancy experiences among individuals who have been pregnant with a child diagnosed with TSC, including those who were and were not exposed to mTOR inhibitors (such as sirolimus or everolimus) during pregnancy. We are seeking participants who are willing to share their prenatal and postnatal experiences.
If you have been pregnant with a child with TSC, regardless of whether you took mTOR inhibitors during pregnancy, please consider participating in this research study to help us learn more about how these medications may affect the mother and the fetus during pregnancy. The study involves the completion of a one-time survey with an anticipated 20-25 minutes to complete, and will include an optional request for medical records to review more detailed information on your experience and outcomes.
This study is for mothers and children who may be eligible to participate if:
  • You are the biological mother of a child with TSC
  • Your child is age 10 or younger
  • Your child was diagnosed with TSC before the age of 1 year
  • You are willing to allow the study team to review your pregnancy care records and your child’s relevant medical records
  • Or you are currently pregnant with a child with TSC and are willing to be contacted to participate after your child is born
Contact the research team to learn more about the study at: tscsurveystudy@duke.edu
Duke IRB Protocol Number: Pro00120405
This collaboration is part of the Reproductive and Perinatal Health (RPH) Initiative committed to improving care before, during, and after pregnancy.

 

If you have any questions please email RPH@tscalliance.org 

The TSC Alliance RPH Task Force will continue progress towards developing evidence-based recommendations to enhance care and empower people with TSC to make informed reproductive health decisions.  

Our results

Preliminary Results of the RPH Preconception Survey

History of the RPH Initiative

A workshop held in March 2024 in Memphis, TN, brought together a committed group of clinical experts in maternal-fetal medicine, epileptology, genetics, nephrology, and other specialties to discuss published organ-specific risks associated with TSC/LAM in pregnancy. The meeting highlighted areas for future studies and identified a need to develop clinical care guidelines. The group was separated into two Task Force teams based on areas of interest and expertise – Reproductive (maternal) and Perinatal (fetal). The insights gained from this workshop marked a critical step toward advancing research and clinical guidance for individuals with TSC/LAM during pregnancy. 

Steps of the RPH Initiative

Created in https://BioRender.com

 

For questions about the RPH program or to sign up to receive additional information about upcoming reproductive and perinatal programs, please email RPH@tscalliance.org.  

The RPH Initiative is also seeking biosamples from mothers and babies with TSC (e.g., cord blood, newborn dry blood spots, whole blood) to contribute to the TSC Natural History Database & Biosample Repository. These samples will be used to address unanswered questions on TSC during the pregnancy and perinatal periods. If you are mother with TSC and/or expecting a baby with TSC and are interested in providing a sample for this effort, please consider enrolling to the TSC Natural History Database & Biosample Repository by emailing biosample@tscalliance.org. 

The RPH initiative is made possible thanks to the generous support from the Samuels Family Foundation.