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

NCT ID: NCT06160310

Last Updated: 2026-01-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-07-01

Study Completion Date

2029-07-01

Brief Summary

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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

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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.

Conditions

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Tuberous Sclerosis Complex Lymphangioleiomyomatosis

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.

* Infants diagnosed with TSC whose birth mother was not enrolled.
Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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David M. Ritter

OTHER

Sponsor Role lead

Responsible Party

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David M. Ritter

Sponsor/Principal Investigator

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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David M Ritter, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital Medical Center, Cincinnati

Locations

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Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Molly S Griffith, BA

Role: CONTACT

513-636-9669

Adrienne Victory

Role: CONTACT

513-636-8016

Facility Contacts

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Molly S Griffith, BA

Role: primary

513-636-9669

Adrienne Victory

Role: backup

513-636-8016

Other Identifiers

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2022-0973

Identifier Type: -

Identifier Source: org_study_id

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