Recruiting

Observational Study

Sponsor:

David M. Ritter

Code:

NCT06160310

Conditions

Tuberous Sclerosis Complex

Lymphangioleiomyomatosis

Eligibility Criteria

Sex: Female

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Tuberous Sclerosis Complex

Lymphangioleiomyomatosis

Study ID

NCT06160310

Start date

Jul 1, 2023

Status verified date

Jan, 2026

Completion date

Jul 1, 2029

Anticipated

Primary completion date

Jul 1, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Female

Age: 0+

Healthy Volunteers: Not accepted

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

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • 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 ]

Central Contacts and Locations

Central contacts

Molly S Griffith, BA

513-636-9669molly.griffith@cchmc.org

Adrienne Victory

513-636-8016adrienne.victory@cchmc.org

Locations

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati, Ohio, United States, 45229

Contacts

Molly S Griffith, BA

513-636-9669molly.griffith@cchmc.org

Adrienne Victory

513-636-8016adrienne.victory@cchmc.org

Principal Investigator:

David M Ritter, MD, PhD

More Information

Sponsor

David M. Ritter

Last update posted

Jan 23, 2026

Last verified

Jan, 2026

Keywords

  • Tuberous Sclerosis Complex
  • TSC
  • Lymphangioleiomyomatosis
  • LAM

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by David M. Ritter on 2026-01-23.