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Recruiting NCT06160310

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

— Observational Tuberous Sclerosis Complex Lymphangioleiomyomatosis

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Tuberous Sclerosis Complex, Lymphangioleiomyomatosis. Basic parameters: No limits · Female.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry

Overview

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.

Primary outcome measures

  • Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence [Time frame: During pregnancy (up to 40 weeks) through 6 months post-delivery]
  • Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing [Time frame: During pregnancy (up to 40 weeks) through 6 months post-delivery]
  • Safety of mTOR inhibitor in Pregnancy -- side effects [Time frame: During pregnancy (up to 40 weeks) through 6 months post-delivery]
  • Maternal-Fetal Complications in TSC [Time frame: During pregnancy (up to 40 weeks)]
  • Maternal Post-Partum Behavioral Health [Time frame: Post-partum up to 6 months]
  • Maternal Post-Partum Mental Health [Time frame: Post-partum up to 6 months]
  • Optimum Time of Fetal Imaging for TSC [Time frame: Birth through 5 years of Age]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • Cincinnati Children's Hospital Medical Center — Cincinnati

Identifiers

NCT: NCT06160310 · 2022-0973

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗