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

NCT06160310 | Recruiting

• 1 other identifier: 2022-0973
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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

Keywords

Tuberous Sclerosis Complex; TSC; Lymphangioleiomyomatosis; LAM

Outcome Measures

Primary Outcomes (7)

• Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence

  Assess number of days participant takes mTOR inhibitor in relation to number of days participant was supposed to take mTOR inhibitor.

  During pregnancy (up to 40 weeks) through 6 months post-delivery

• Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing

  Review mTOR inhibitor dosing for each participant.

  During pregnancy (up to 40 weeks) through 6 months post-delivery

• Safety of mTOR inhibitor in Pregnancy -- side effects

  Monitor side effects of mTOR inhibitor experienced by participant.

  During pregnancy (up to 40 weeks) through 6 months post-delivery

• Maternal-Fetal Complications in TSC

  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.

  During pregnancy (up to 40 weeks)

• Maternal Post-Partum Behavioral Health

  Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.

  Post-partum up to 6 months

• Maternal Post-Partum Mental Health

  Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).

  Post-partum up to 6 months

• Optimum Time of Fetal Imaging for TSC

  Compare fetal imaging to imaging and clinical data including echocardiograms, electrocardiograms, genetic testing results, magnetic resonance images of the brain and abdomen, ultrasounds.

  Birth through 5 years of Age

Eligibility Criteria

• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This registry is designed to enroll pregnant women who have a TSC and/or LAM diagnosis, a variant of uncertain significance in the TSC 1 or TSC 2 genes, whose fetus has a 50% chance of TSC as deemed by the study PI or Sub-Is, or whose fetus is found to have concern for TSC based on fetal testing. Infants born to an enrolled individual regardless of gender and TSC status are eligible for enrollment into the registry.

You may qualify if:

• 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.

You may not qualify if:

• Infants diagnosed with TSC whose birth mother was not enrolled.

Sponsors & Collaborators

• David M. Ritter: lead

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

MeSH Terms

Conditions

Tuberous Sclerosis; Lymphangioleiomyomatosis

Condition Hierarchy (Ancestors)

Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Lymphangiomyoma; Neoplasm, Lymphatic Tissue; Neoplasms by Histologic Type; Perivascular Epithelioid Cell Neoplasms; Neoplasms, Connective and Soft Tissue; Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Immunoproliferative Disorders; Immune System Diseases

Study Officials

• David M Ritter, MD, PhD

  Children's Hospital Medical Center, Cincinnati

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Molly S Griffith, BA

CONTACT

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

Adrienne Victory

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Sponsor/Principal Investigator

Study Record Dates

• First Submitted: October 16, 2023
• First Posted: December 7, 2023
• Study Start: July 1, 2023
• Primary Completion (Estimated): July 1, 2028
• Study Completion (Estimated): July 1, 2029
• Last Updated: January 23, 2026

Record last verified: 2026-01

Locations

US (1)