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

Study Purpose

This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.

An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.

Searching Both is inclusive of interventional and observational studies.

Observational [Patient Registry]
Eligible Ages N/A and Over
Gender Female
More Inclusion & Exclusion 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.

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.


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Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

David M. Ritter
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

David M Ritter, MD, PhD
Principal Investigator Affiliation Children's Hospital Medical Center, Cincinnati
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Overall Status Recruiting
Countries United States

The disease, disorder, syndrome, illness, or injury that is being studied.

Tuberous Sclerosis Complex, Lymphangioleiomyomatosis
Additional Details

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.

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

Cincinnati, Ohio




Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229

Site Contact

Molly S Griffith, BA

[email protected]


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