NCT06160310 · David M. Ritter
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
What this study is about
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
View original scientific description
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
Primary outcome measures
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence
Time frame: During pregnancy (up to 40 weeks) through 6 months post-delivery
Assess number of days participant takes mTOR inhibitor in relation to number of days participant was supposed to take mTOR inhibitor.
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing
Time frame: During pregnancy (up to 40 weeks) through 6 months post-delivery
Review mTOR inhibitor dosing for each participant.
Safety of mTOR inhibitor in Pregnancy -- side effects
Time frame: During pregnancy (up to 40 weeks) through 6 months post-delivery
Monitor side effects of mTOR inhibitor experienced by participant.
Maternal-Fetal Complications in TSC
Time frame: During pregnancy (up to 40 weeks)
Screening for changes in pregnancy, maternal health/medication changes and other care by using a study-developed monthly questionnaire inquiring about pregnancy status, maternal and/or fetal testing, changes to maternal and fetal care clinical providers, addition or removal of medications, changes in medication doses, and addition of new complications to mother and/or fetus using a list of common gestational complications within prior month.
Maternal Post-Partum Behavioral Health
Time frame: Post-partum up to 6 months
Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.
Maternal Post-Partum Mental Health
Time frame: Post-partum up to 6 months
Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).
Optimum Time of Fetal Imaging for TSC
Time frame: Birth through 5 years of Age
Compare fetal imaging to imaging and clinical data including echocardiograms, electrocardiograms, genetic testing results, magnetic resonance images of the brain and abdomen, ultrasounds.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- A pregnant woman with a clinical or genetic diagnosis of TSC as determined by the 2021 Consensus Guidelines (1)
- A pregnant woman with a diagnosis of LAM
- A pregnant woman with a variant of uncertain significance in TSC 1 or TSC 2
- A pregnant woman who is pregnant and the fetus has a 50% chance of TSC as deemed by the PI or Sub-Is
- A pregnant woman whose fetus is found to have concern for TSC secondary to rhabdomyomas, tubers, or congenital subependymal giant cell astrocytoma.
- An infant born to an enrolled individual.
Exclusion criteria
- A pregnant woman without TSC who has used preimplantation genetic testing for TSC unless qualifies under inclusion criteria #4.
- Infants diagnosed with TSC whose birth mother was not enrolled.
Where
- Cincinnati, Ohio
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Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jan 23, 2026 · Source of record for eligibility and locations