Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Maternal Post-Partum Mental Health
研究概览
简要总结
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •A pregnant woman without TSC who has used preimplantation genetic testing for TSC unless qualifies under inclusion criteria #
- •Infants diagnosed with TSC whose birth mother was not enrolled.
结局指标
主要结局
Maternal Post-Partum Mental Health
时间窗: Post-partum up to 6 months
Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).
Optimum Time of Fetal Imaging for TSC
时间窗: 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.
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence
时间窗: 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 -- side effects
时间窗: During pregnancy (up to 40 weeks) through 6 months post-delivery
Monitor side effects of mTOR inhibitor experienced by participant.
Maternal Post-Partum Behavioral Health
时间窗: Post-partum up to 6 months
Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing
时间窗: During pregnancy (up to 40 weeks) through 6 months post-delivery
Review mTOR inhibitor dosing for each participant.
Maternal-Fetal Complications in TSC
时间窗: 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.
次要结局
未报告次要终点
研究者
David M. Ritter
Sponsor/Principal Investigator
Children's Hospital Medical Center, Cincinnati