Tuberous Sclerosis Complex (TSC)

This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus erythematosus (SLE), compared with chronic kidney disease (CKD) controls and population controls. This is a cross-sectional, case-control observational study. Participants will undergo a single structured evaluation including a full-mouth periodontal examination, a clinical questionnaire, and collection of relevant clinical and nephrological data. The primary objective is to compare the prevalence of periodontitis across study groups. Secondary objectives include characterization of periodontal disease severity, prevalence of gingivitis and xerostomia, and identification of disease-specific oral phenotypes. Exploratory analyses will assess associations between periodontal disease and clinical variables such as kidney function, proteinuria, and immunosuppressive exposure.

1\. To assess treatment efficacy with YCJ-01 by changes in the number of epileptic seizures in patients with refractory epilepsy secondary to Tuberous Sclerosis Complex. 2. To assess the safety of the treatment with YCJ-01 in patients with refractory epilepsy secondary to Tuberous Sclerosis Complex.

This is a phase 1b, open-label, dose-escalation study to evaluate the safety, tolerability, pharmacokinetics of Sapu003 in combination with Exemestane in in patients with advanced mTOR-sensitive solid tumors (HR+/HER2-negative breast cancer, renal cell carcinoma \[RCC\], neuroendocrine tumors \[NETs\], tuberous sclerosis complex \[TSC\]-associated tumors, and hepatocellular carcinoma \[HCC\]).

This is a multinational, open-label, single-arm trial of adjunctive SVG103 (paxalisib) treatment in adults with FCD-II, TSC, and HME.

Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.