Skip to main content
OpenTrials
Recruiting

NCT Number: NCT06160310

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

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

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Tuberous Sclerosis Complex Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hamartoma Hemic and Lymphatic Diseases Heredodegenerative Disorders, Nervous System Immune System Diseases Immunoproliferative Disorders Lymphangioleiomyomatosis Lymphangiomyoma Lymphatic Diseases Lymphoproliferative Disorders Malformations of Cortical Development Malformations of Cortical Development, Group I Neoplasm, Lymphatic Tissue Neoplasms Neoplasms by Histologic Type Neoplasms, Connective and Soft Tissue Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Nervous System Diseases Nervous System Malformations Neurocutaneous Syndromes Neurodegenerative Diseases Perivascular Epithelioid Cell Neoplasms Tuberous Sclerosis

Sex eligibility

Female

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. Maternal Post-Partum Behavioral Health

    Time frame: Post-partum up to 6 months

    Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.

  6. Maternal Post-Partum Mental Health

    Time frame: Post-partum up to 6 months

    Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).

  7. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Adrienne Victory

CONTACT

[email protected]

513-636-8016

Molly S Griffith, BA

CONTACT

[email protected]

513-636-9669

Sponsors and collaborators

Lead sponsor

David M. Ritter

Other

Registry information

Official study title

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry

Important dates

Study start
2023
Primary completion
2028
Study completion
2029
First posted
Dec 7, 2023
Registry last updated
Jan 23, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.