Table 1.

TOSCA objectives and main variables

Objectives	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)

Abbreviations: FSH follicle stimulating hormone, LH luteinising hormone, SEGA subependymal giant cell astrocytoma, TOSCA TuberOus SClerosis registry to increase disease Awareness, TSC, tuberous sclerosis complex.