Status:

RECRUITING

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

Lead Sponsor:

David M. Ritter

Conditions:

Tuberous Sclerosis Complex

Lymphangioleiomyomatosis

Eligibility:

FEMALE

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 ...

Eligibility Criteria

Inclusion

  • 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

  • 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.

Key Trial Info

Start Date :

July 1 2023

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

July 1 2029

Estimated Enrollment :

300 Patients enrolled

Trial Details

Trial ID

NCT06160310

Start Date

July 1 2023

End Date

July 1 2029

Last Update

January 15 2025

Active Locations (1)

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Page 1 of 1 (1 locations)

1

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States, 45229