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

Recruiting

• Conditions: Lymphangioleiomyomatosis; Tuberous Sclerosis Complex

• Registration Number: NCT06160310
• Lead Sponsor: David M. Ritter

Brief Summary

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

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 Timeline

• Study Start: 2023-07-01
• Study First Submitted: 2023-10-16
• Study First Submitted QC: 2023-11-28
• Study First Posted: 2023-12-07
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-13
• Last Update Posted: 2025-01-15
• Primary Completion: 2028-07-01
• Study Completion: 2029-07-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 300

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Maternal Post-Partum Mental Health	Post-partum up to 6 months	Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).
Optimum Time of Fetal Imaging for TSC	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.
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence	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 -- side effects	During pregnancy (up to 40 weeks) through 6 months post-delivery	Monitor side effects of mTOR inhibitor experienced by participant.
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing	During pregnancy (up to 40 weeks) through 6 months post-delivery	Review mTOR inhibitor dosing for each participant.
Maternal-Fetal Complications in TSC	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	Post-partum up to 6 months	Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.

Trial Locations

Locations (1)

Cincinnati Children's Hospital Medical Center; 🇺🇸 Cincinnati, Ohio, United States