Actively Recruiting
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry
Led by David M. Ritter · Updated on 2026-01-23
300
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to collect detailed information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their children. TSC is caused by mutations affecting the mTOR pathway, leading to multiple organ involvement and risks such as autism, epilepsy, intellectual disability, and various tumors. LAM mostly affects women and is linked to TSC gene mutations. The goal is to help doctors develop better care guidelines for pregnant women with these conditions and improve fetal screening for TSC. Participants who are pregnant women with TSC or LAM will complete monthly online surveys to report on pregnancy progress, health changes, medication use, and care details. For infants enrolled after birth, clinical information will be collected and reviewed up to 5 years of age. This observational registry focuses on monitoring and gathering data without administering specific treatments. Throughout the study, researchers will monitor medication adherence, dosing, and side effects related to mTOR inhibitors during pregnancy and for six months after delivery. They will also assess maternal and fetal health outcomes including behavioral and mental health postpartum. Imaging and clinical reviews for infants will continue up to age five, allowing long-term observation of TSC effects. Participation may last from pregnancy through early childhood follow-up.
CONDITIONS
Brief Title
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Pregnant women with a clinical or genetic diagnosis of TSC as determined by 2021 Consensus Guidelines
- Pregnant women diagnosed with LAM
- Pregnant women with a variant of uncertain significance in TSC 1 or TSC 2
- Pregnant women whose fetus has a 50% chance of TSC as assessed by the study investigators
- Pregnant women whose fetus shows signs of TSC such as rhabdomyomas, tubers, or subependymal giant cell astrocytoma
- Infants born to enrolled pregnant participants
You will not qualify if you...
- Pregnant women without TSC who have used preimplantation genetic testing for TSC unless meeting specific inclusion criteria
- Infants diagnosed with TSC whose birth mother was not enrolled in the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or online)
Duration - Up to 40 weeks during pregnancy
Participants complete monthly online surveys to report changes in pregnancy, maternal health, medication changes, and other care.
Monthly online surveys
Duration - Up to 6 months post-partum
Participants are observed for maternal post-partum behavioral and mental health up to 6 months after delivery.
Monthly online surveys or assessments
Duration - Up to 5 years after birth
Clinical data for infants born to enrolled participants are collected and reviewed to monitor for signs of TSC up to 5 years of age.
Periodic clinical data collection
Trial Site Locations
Total: 1 location
1
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Actively Recruiting
Research Team
M
Molly S Griffith, BA
A
Adrienne Victory
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here