Precision Diagnosis and Treatment of Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Based on the Functional Map of TSC1/2 Gene Variants

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2600125611

Enrollment

Unknown

Registered

2026-05-28

Start date

2026-06-01

Completion date

Unknown

Last updated

2026-06-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis (LAM)

Interventions

Patients with S-LAM:None

TSC-LAM patients:None

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. The diagnosis meets the 2021 updated TSC diagnostic criteria of the International Tuberous Sclerosis Complex Consensus Group or meets the ATS/JRS 2017 diagnostic criteria for lymphangioleiomyomatosis; 2. There is a record of sirolimus treatment; 3. Completed at least one clinical follow-up assessment; 4. TSC patients are required to undergo next-generation sequencing (NGS) of peripheral blood covering the TSC1/TSC2 genes; S-LAM patients are required to undergo deep next-generation sequencing of cell-free DNA from peripheral blood and/or lesional tissues (lungs, renal AML, retroperitoneal lymphangioleiomyoma) covering the TSC1/TSC2 genes.

Exclusion criteria

Exclusion criteria: 1. Poor adherence to sirolimus treatment or refusal to follow up.

Design outcomes

Primary

Measure	Time frame
Changes in FEV1 at 1 year and 3 years after sirolimus treatment;	—

Secondary

Measure	Time frame
Change in SGRQ score;6-minute walk distance;Change in renal AML size after sirolimus treatment;	—

Countries

China

Contacts

Public ContactXu Kaifeng

Peking Union Medical College Hospital

xukf@pumch.cn+86 10 69155039

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Jun 11, 2026