TuberOus SClerosis registry to increase disease Awareness TOSCA – baseline data on 2093 patientsReport as inadecuate

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Orphanet Journal of Rare Diseases

, 12:2

Rare cancers


BackgroundTuberous sclerosis complex TSC is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The T uberO us SC lerosis registry to increase disease A wareness TOSCA is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort.

MethodsPatients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a -core- section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. -Subsections- of the registry recorded additional data related to specific features of TSC.

ResultsBaseline -core- data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years range, 0–71 and at diagnosis of TSC was 1 year range, 0–69. The occurrence rates of major manifestations of TSC included – cortical tubers 82.2%, subependymal nodules 78.2%, subependymal giant cell astrocytomas 24.4%, renal angiomyolipomas 47.2%, lymphangioleiomyomatosis 6.9%, cardiac rhabdomyomas 34.3%, facial angiofibromas 57.3%, forehead plaque 14.1%, ≥ 3 hypomelanotic macules 66.8%, and shagreen patches 27.4%. Epilepsy was reported in 1748 83.5% patients, of which 1372 were diagnosed at ≤ 2 years 78%. Intellectual disability was identified in 451 54.9% patients of those assessed. TSC-associated neuropsychiatric disorders TAND were diagnosed late, and not evaluated in 30–50% of patients.

ConclusionTOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.

KeywordsTuberous sclerosis Registry Epilepsy Subependymal giant cell astrocytoma Angiomyolipoma TOSCA AbbreviationsACTHAdrenocorticotropic hormone

ADHDAttention deficit hyperactivity disorder

ASDAutism spectrum disorder

GABAGamma-aminobutyric acid

HRCTHigh-resolution chest computed tomography


mTORMammalian target of rapamycin

SEGASubependymal giant cell astrocytoma

TANDTSC-associated neuropsychiatric disorders

TOSCAT uberO us SC lerosis registry to increase disease A wareness

TSCTuberous sclerosis complex

Electronic supplementary materialThe online version of this article doi:10.1186-s13023-016-0553-5 contains supplementary material, which is available to authorized users.

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Author: John C. Kingswood - Guillaume B. d’Augères - Elena Belousova - José C. Ferreira - Tom Carter - Ramon Castellana - Vin


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