ClinicalTrials.gov record NCT06160310

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexFemale
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A prospective registry collecting information from pregnant women with TSC or LAM and from infants born to enrolled participants. Participants complete monthly online surveys during pregnancy; infants enrolled after birth may have clinical data collected and reviewed through age five. The registry also tracks medication use, including mTOR inhibitors, and imaging data.

What it is studying. The study is gathering clinical and patient-reported information to inform care during pregnancy for people with TSC or LAM. It aims to document maternal and fetal outcomes, monitor use and safety-related measures for mTOR inhibitor treatment during pregnancy, assess postpartum behavioral and mental health, and compare fetal imaging timing with later clinical findings in early childhood.

What the researchers hope to learn. Collect data to help clinicians develop evidence-based guidance for managing TSC and LAM during pregnancy; provide screening recommendations for fetal TSC; assess medication use and safety measures for mTOR inhibitors in pregnancy; describe maternal-fetal complications and postpartum behavioral and mental health; identify optimal timing for fetal imaging relative to later findings.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

Tuberous sclerosis complex (TSC) is caused by mutations in tuberous sclerosis complex 1 (TSC 1) and tuberous sclerosis complex 2 (TSC 2) leading to overactivation of the mammilian target of rapamycin (mTOR) pathway resulting in multiorgan disease. Specifically, patients are at risk for autism, epilepsy, intellectual disability, renal cysts, tuberous sclerosis associated neuropsychiatric disorder (TAND), lymphangioleiomyomatosis (LAM), and benign tumors throughout the body including subependymal giant cell astrocytomas (SEGAs), renal and liver angiomyolipomas (AMLs), and cardiac rhabdomyomas (rhabdomyomas). Sporadic LAM occurs mostly in women and many patients with LAM have TSC gene mutations. The purpose of this study is to gather information to help clinicians develop evidence-based guidance for the care of TSC and LAM patients during pregnancy and to provide screening recommendations for fetal TSC. Participants will be asked to complete monthly online surveys screening for changes in the pregnancy, maternal health/medication changes, and other care. For infants enrolled after birth, clinical data will be collected and reviewed for up to 5 years of age.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

During pregnancy participants will be asked to complete monthly online questionnaires about pregnancy status, maternal health, medication changes (including mTOR inhibitor use and side effects) and new complications. After birth, infants born to enrolled mothers may have their clinical data and existing clinical tests (imaging, echocardiograms, genetic test results, etc.) collected and reviewed through age 5. Mothers will complete postpartum questionnaires including the TAND questionnaire and the Edinburgh Postnatal Depression Scale (EPDS) up to 6 months post-partum. The study reviews dosing, adherence and side effects for mTOR inhibitors from pregnancy through 6 months after delivery.

How the study is structured. An observational, prospective registry (cohort) that does not assign treatments. Pregnant participants complete monthly online questionnaires about pregnancy status, health, medications, and complications during pregnancy. Infants born to enrolled individuals may be enrolled and have clinical data and imaging reviewed for up to five years. The planned follow-up period for the registry is about five years.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on tuberous sclerosis complex

This trial is also listed on this site under lymphangioleiomyomatosis.

Clinical trials30 trials listed for tuberous sclerosis complexEvery trial the registry lists for tuberous sclerosis complex, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in tuberous sclerosis complex researchLatest monthly update: September 2026. Includes: CBD add-on therapy. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jul 1, 2023
Primary completion
Jul 1, 2028 (estimated)
Study completion
Jul 1, 2029 (estimated)
Target enrollment
300 participants (estimated)
Last updated on registry
Jan 23, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
David M. Ritter

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
inclusion criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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