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

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy 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.

Study Overview

• Status: Recruiting
• Conditions: Tuberous Sclerosis Complex; Lymphangioleiomyomatosis

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Adrienne Victory; Phone Number: 513-636-8016; Email: adrienne.victory@cchmc.org
• Study Contact Backup: Name: Molly S Griffith, BA; Phone Number: 513-636-9669; Email: molly.griffith@cchmc.org

Study Locations

• United States
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Recruiting
      • Cincinnati Children's Hospital Medical Center
      • Contact: Adrienne Victory; Phone Number: 513-636-8016; Email: adrienne.victory@cchmc.org
      • Contact: Molly S Griffith, BA; Phone Number: 513-636-9669; Email: molly.griffith@cchmc.org
      • Principal Investigator: David M Ritter, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

This registry is designed to enroll pregnant women who have a TSC and/or LAM diagnosis, a variant of uncertain significance in the TSC 1 or TSC 2 genes, whose fetus has a 50% chance of TSC as deemed by the study PI or Sub-Is, or whose fetus is found to have concern for TSC based on fetal testing.

Infants born to an enrolled individual regardless of gender and TSC status are eligible for enrollment into the registry.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence	Assess number of days participant takes mTOR inhibitor in relation to number of days participant was supposed to take mTOR inhibitor.	During pregnancy (up to 40 weeks) through 6 months post-delivery
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing	Review mTOR inhibitor dosing for each participant.	During pregnancy (up to 40 weeks) through 6 months post-delivery
Safety of mTOR inhibitor in Pregnancy -- side effects	Monitor side effects of mTOR inhibitor experienced by participant.	During pregnancy (up to 40 weeks) through 6 months post-delivery
Maternal-Fetal Complications in TSC	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.	During pregnancy (up to 40 weeks)
Maternal Post-Partum Behavioral Health	Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.	Post-partum up to 6 months
Maternal Post-Partum Mental Health	Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).	Post-partum up to 6 months
Optimum Time of Fetal Imaging for TSC	Compare fetal imaging to imaging and clinical data including echocardiograms, electrocardiograms, genetic testing results, magnetic resonance images of the brain and abdomen, ultrasounds.	Birth through 5 years of Age

Collaborators and Investigators

• Sponsor: David M. Ritter
• Investigators: Principal Investigator: David M Ritter, MD, PhD, Children's Hospital Medical Center, Cincinnati

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2023
• Primary Completion (Estimated): July 1, 2028
• Study Completion (Estimated): July 1, 2029

Study Registration Dates

• First Submitted: October 16, 2023
• First Submitted That Met QC Criteria: November 28, 2023
• First Posted (Actual): December 7, 2023

Study Record Updates

• Last Update Posted (Actual): January 23, 2026
• Last Update Submitted That Met QC Criteria: January 21, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: Tuberous Sclerosis Complex; LAM; TSC; Lymphangioleiomyomatosis
• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms; Genetic Diseases, Inborn; Immune System Diseases; Neoplasms by Histologic Type; Neurodegenerative Diseases; Lymphatic Diseases; Lymphoproliferative Disorders; Immunoproliferative Disorders; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Neoplasms, Connective and Soft Tissue; Hamartoma; Neoplasms, Multiple Primary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Lymphangiomyoma; Perivascular Epithelioid Cell Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Neoplasm, Lymphatic Tissue; Tuberous Sclerosis; Lymphangioleiomyomatosis
• Other Study ID Numbers: 2022-0973

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No