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

Phase

N/A

Condition

Precancerous Condition

Neurofibromatosis

Lymphangioleiomyomatosis

Treatment

N/A

Clinical Study ID

NCT06160310

2022-0973

Female

Study 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.

Eligibility Criteria

Inclusion

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 bythe PI or Sub-Is
A pregnant woman whose fetus is found to have concern for TSC secondary torhabdomyomas, tubers, or congenital subependymal giant cell astrocytoma.
An infant born to an enrolled individual.

Exclusion

Exclusion Criteria:

A pregnant woman without TSC who has used preimplantation genetic testing for TSCunless qualifies under inclusion criteria #4.
Infants diagnosed with TSC whose birth mother was not enrolled.

Study Design

July 01, 2023

July 01, 2029

Study 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.

Connect with a study center

Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio 45229
United States
Active - Recruiting

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