Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry
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.
Outcome measures
Primary
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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: During pregnancy (up to 40 weeks)
Maternal Post-Partum Behavioral Health
Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.
Time frame: Post-partum up to 6 months
Maternal Post-Partum Mental Health
Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).
Time frame: 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.
Time frame: Birth through 5 years of Age
Eligibility criteria
Study locations (1)
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229