Tuberous Sclerosis ComplexNCT06160310
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
An observational study of Tuberous Sclerosis Complex and Lymphangioleiomyomatosis, run by David M. Ritter at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Tuberous Sclerosis Complex, Lymphangioleiomyomatosis
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Jul 2023to 1 Jul 2029
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Molly S Griffith, BA, 513-636-9669, molly.griffith@cchmc.org
Adrienne Victory, 513-636-8016, adrienne.victory@cchmc.org
About this study
Official title: Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
Read the 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.
- Keywords
- Tuberous Sclerosis Complex, TSC, Lymphangioleiomyomatosis, LAM
- Medical subject headings
- Tuberous Sclerosis, Lymphangioleiomyomatosis
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: During pregnancy (up to 40 weeks)
Maternal Post-Partum Behavioral Health
Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.
Measured: Post-partum up to 6 months
Maternal Post-Partum Mental Health
Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).
Measured: 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.
Measured: Birth through 5 years of Age
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Dec 2023
- Study start1 Jul 2023
- Primary completion1 Jul 2028 (estimated)
- Study completion1 Jul 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Tuberous Sclerosis ComplexStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- David M. Ritter
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, David M. Ritter, Children's Hospital Medical Center, Cincinnati
- Investigators
- David M Ritter, MD, PhD, Principal investigator, Children's Hospital Medical Center, Cincinnati
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06160310
- Sponsor's protocol ID
- 2022-0973
- Status last verified
- Jan 2026
- First submitted
- 16 Oct 2023
- Last updated
- 23 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry
- ClinicalTrials.gov ID
- NCT06160310
- Acronym / sponsor ID
- 2022-0973
- Keywords
- Tuberous Sclerosis Complex, TSC, Lymphangioleiomyomatosis, LAM
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- David M. RitterUniversity, hospital or other
- Study start
- 1 Jul 2023 (actual)
- Primary completion
- 1 Jul 2028 (estimated)
- Study completion
- 1 Jul 2029 (estimated)
- First posted
- 7 Dec 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (6 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: Post-partum up to 6 months
Participant will complete Tuberous Sclerosis Complex associated Neuropsychiatric Disorders (TAND) questionnaire.
Maternal Post-Partum Mental Health
Time frame: Post-partum up to 6 months
Participant will complete the Edinburgh Postnatal Depression Scale (EPDS).
Optimum Time of Fetal Imaging for TSC
Time frame: 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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Jan 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
David M Ritter, MD, PhD principal investigator
Children's Hospital Medical Center, Cincinnati
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Tuberous Sclerosis Complex and Lymphangioleiomyomatosis, run by David M. Ritter at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 23 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Molly S Griffith, BA (513-636-9669, molly.griffith@cchmc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety of mTOR inhibitor in Pregnancy -- mTOR inhibitor adherence (time frame: During pregnancy (up to 40 weeks) through 6 months post-delivery). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Jan 2026.