Clinical trial NCT06160310: Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
Official title: Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Tuberous Sclerosis Complex
Lymphangioleiomyomatosis
Keywords: Tuberous Sclerosis Complex
TSC
Lymphangioleiomyomatosis
LAM
Lead sponsor: Children's Hospital Medical Center, Cincinnati
Sponsor class: OTHER
First posted: 2023-12-07
Enrollment: 300
Sex: FEMALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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.

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.

Primary outcomes:
measure: Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence
timeFrame: During pregnancy (up to 40 weeks) through 6 months post-delivery
measure: Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing
timeFrame: During pregnancy (up to 40 weeks) through 6 months post-delivery
measure: Safety of mTOR inhibitor in Pregnancy -- side effects
timeFrame: During pregnancy (up to 40 weeks) through 6 months post-delivery
measure: Maternal-Fetal Complications in TSC
timeFrame: During pregnancy (up to 40 weeks)
measure: Maternal Post-Partum Behavioral Health
timeFrame: Post-partum up to 6 months
measure: Maternal Post-Partum Mental Health
timeFrame: Post-partum up to 6 months
measure: Optimum Time of Fetal Imaging for TSC
timeFrame: Birth through 5 years of Age
Secondary outcomes:
Other outcomes:
Locations:
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
Study officials:
affiliation: Children's Hospital Medical Center, Cincinnati
name: David M Ritter, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: