Lymphangioleiomyomatosis, Tuberous Sclerosis Complex
Conditions
Keywords
Tuberous Sclerosis Complex, TSC, Lymphangioleiomyomatosis, LAM
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.
Interventions
None listed
Sponsors
David M. Ritter
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence | During pregnancy (up to 40 weeks) through 6 months post-delivery | Assess number of days participant takes mTOR inhibitor in relation to number of days participant was supposed to take mTOR inhibitor. |
| Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing | During pregnancy (up to 40 weeks) through 6 months post-delivery | Review mTOR inhibitor dosing for each participant. |
| Safety of mTOR inhibitor in Pregnancy -- side effects | During pregnancy (up to 40 weeks) through 6 months post-delivery | Monitor side effects of mTOR inhibitor experienced by participant. |
| Maternal-Fetal Complications in TSC | During pregnancy (up to 40 weeks) | 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. |
| Maternal Post-Partum Behavioral Health | Post-partum up to 6 months | Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire. |
| Maternal Post-Partum Mental Health | Post-partum up to 6 months | Participant will complete the Edinburgh Postnatal Depression Scale (EPDS). |
| Optimum Time of Fetal Imaging for TSC | Birth through 5 years of Age | Compare fetal imaging to imaging and clinical data including echocardiograms, electrocardiograms, genetic testing results, magnetic resonance images of the brain and abdomen, ultrasounds. |
Countries
United States
Contacts
CONTACTMolly S Griffith, BA
CONTACTAdrienne Victory
PRINCIPAL_INVESTIGATORDavid M Ritter, MD, PhD
Children's Hospital Medical Center, Cincinnati
Outcome results
None listed