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

Tuberous Sclerosis Complex Clinical Trial

Official title:

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06160310
• Other study ID #: 2022-0973
• Status: Recruiting
• Start date: July 1, 2023
• Est. completion date: July 1, 2029

Study information

• Verified date: November 2023
• Source: Children's Hospital Medical Center, Cincinnati
• Contact: Molly S Griffith, BA
• Phone: 513-636-9669
• Email: molly.griffith[@]cchmc.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: July 1, 2029
• Est. primary completion date: July 1, 2028
• Accepts healthy volunteers: No
• Gender: Female
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Lymphangioleiomyomatosis
• Sclerosis
• Tuberous Sclerosis
• Tuberous Sclerosis Complex

Locations

Country	Name	City	State
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio

Sponsors (1)

Lead Sponsor	Collaborator
David M. Ritter

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
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.	During pregnancy (up to 40 weeks) through 6 months post-delivery
Primary	Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor dosing	Review mTOR inhibitor dosing for each participant.	During pregnancy (up to 40 weeks) through 6 months post-delivery
Primary	Safety of mTOR inhibitor in Pregnancy -- side effects	Monitor side effects of mTOR inhibitor experienced by participant.	During pregnancy (up to 40 weeks) through 6 months post-delivery
Primary	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.	During pregnancy (up to 40 weeks)
Primary	Maternal Post-Partum Behavioral Health	Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.	Post-partum up to 6 months
Primary	Maternal Post-Partum Mental Health	Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).	Post-partum up to 6 months
Primary	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.	Birth through 5 years of Age