Table 1 TOSCA objectives and main variables

To map the course of TSC manifestations and their prognostic roles

Proportion of patients with each TSC manifestation (e.g., SEGA, angiomyolipoma, lymphangioleiomyomatosis), its complications and overall survival

To identify patients with rare symptoms and comorbidities

Incidence and prevalence of rare symptoms and comorbidities

To record interventions and their outcomes

Frequency of interventions by type, by sequence and by role of the treating physician, and of physician specialty and referral to site of excellence

Outcome of manifestations by type of intervention

Frequency and type of follow-up visits, imaging/tests, hospitalisation, emergency room visits and surgical procedures

To contribute to creating an evidence base for disease assessment and therapy and inform research on TSC

Identification of scientific hypotheses to be tested in preclinical and/or clinical investigations; promote observational and experimental prospective studies on specific groups of patients

To measure quality of life in patients with TSC

Validated questionnaires on quality of life

To collect information on sexual maturation/endocrine assessments in patients with TSC, if available

Endocrine assessments (e.g., FSH, LH, Inhibin B, estradiol, testosterone, progesterone)