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Cited by 267Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.Vascular Malformations and Hemangiomas

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Tuberous Sclerosis registry to increase disease Awareness (TOSCA): baseline data on 2093 patients

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on behalf of TOSCA consortium and TOSCA investigators, Kingswood, John C., d’Augères, Guillaume B., Belousova, Elena, Ferreira, José C., Carter, Tom, Castellana, Ramon, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, de Vries, Petrus J., Feucht, Martha, Fladrowski, Carla, Gislimberti, Gabriella, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O’Callaghan, Finbar, Benedik, Mirjana P., Qin, Jiong, Marques, Ruben, Sander, Valentin, Sauter, Matthias, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C.·2017·Orphanet Journal of Rare Diseases
DOI 10.1186/s13023-016-0553-5PMC PMC5217262
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Abstract

BACKGROUND: Tuberous 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 TuberOus SClerosis registry to increase disease Awareness (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. METHODS: Patients 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. RESULTS: Baseline "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. CONCLUSION: TOSCA 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.

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Fig. 1 Patients enrolled from different countries in TOSCA (N = 2223). *European countries include: Austria, Belgium, Czech Republic, Denmark, Estonia, France, Germany, Greece, Italy, Latvia, Lithunia, Netherlands, Norway, Poland, Portugal, Romonia, Slovakia, Slovenia, Spain, and Sweden. #Outside Europe include: Australia, Israel, Japan, Korea, Russia, South Africa, Mainland China, Hongkong, Macau, Taiwan, Thailand, and Turkey
Fig. 1 Patients enrolled from different countries in TOSCA (N = 2223). *European countries include: Austria, Belgium, Czech Republic, Denmark, Estonia, France, Germany, Greece, Italy, Latvia, Lithunia, Netherlands, Norway, Poland, Portugal, Romonia, Slovakia, Slovenia, Spain, and Sweden. #Outside Europe include: Australia, Israel, Japan, Korea, Russia, South Africa, Mainland China, Hongkong, Macau, Taiwan, Thailand, and TurkeyCC BY · PubMed Central
Fig. 2 Distribution of TOSCA participants among different specialties (N = 2223)
Fig. 2 Distribution of TOSCA participants among different specialties (N = 2223)CC BY · PubMed Central
Fig. 3 Patient distribution by age for inclusion in TOSCA (N = 2093). Median age at consent was 13 years (range 0–71)
Fig. 3 Patient distribution by age for inclusion in TOSCA (N = 2093). Median age at consent was 13 years (range 0–71)CC BY · PubMed Central
Fig. 4 Major manifestations of TSC categorized by age range in TOSCA participants (N = 2093). LAM, Lymphangioleiomyomatosis; SEGA, subependymal giant cell astrocytoma; SEN, subependymal nodule; TOSCA, TuberOus SClerosis registry to increase disease Awareness; TSC, tuberous sclerosis complex. *Percentage of the manifestation in each age category is calculated based on the total number of patients under the respective age group
Fig. 4 Major manifestations of TSC categorized by age range in TOSCA participants (N = 2093). LAM, Lymphangioleiomyomatosis; SEGA, subependymal giant cell astrocytoma; SEN, subependymal nodule; TOSCA, TuberOus SClerosis registry to increase disease Awareness; TSC, tuberous sclerosis complex. *Percentage of the manifestation in each age category is calculated based on the total number of patients under the respective age groupCC BY · PubMed Central

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Authors
on behalf of TOSCA consortium and TOSCA investigators, Kingswood, J. C., d’Augères, G. B., Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., Cottin, V., Curatolo, P., Dahlin, M., de Vries, P. J., Feucht, M., Fladrowski, C., Gislimberti, G., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Nabbout, R., O’Callaghan, F., Benedik, M. P., Qin, J., Marques, R., Sander, V., Sauter, M., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., & Jansen, A. C.
Affiliations
  • Royal Sussex County Hospital (GB)
  • Hospital de Egas Moniz (PT)
  • Tuberous Sclerosis Association (GB)
  • Novartis (Spain) (ES)
  • Lyon 1 Université (FR)
  • Policlinico Tor Vergata (IT)
  • Karolinska University Hospital (SE)
  • University of Cape Town (ZA)
  • Novartis (Italy) (IT)
  • Vivantes Klinikum (DE)
  • Sydney Children's Hospital (AU)
  • Vall d'Hebron Hospital Universitari (ES)
  • Hôpital Necker-Enfants Malades (FR)
  • Peking University People's Hospital (CN)
  • National Epilepsy Center (JP)
  • Hôpital Nord (FR)
  • University Medical Center Utrecht (NL)
  • Universitair Ziekenhuis Brussel (BE)
Corresponding author
Kingswood, John C.
ORCID
Venue
Orphanet Journal of Rare Diseases
Publisher
Springer Science and Business Media LLC
Published
2017-01-05
Volume
12
Issue
1
Pages
2-2
ISSN
1750-1172 (ISSN-L)
DOI
10.1186/s13023-016-0553-5
PMC
PMC5217262
OpenAlex
W2569230786
Cited by
267
References
41
Citations by year
2026: 21 · 2025: 37 · 2024: 25 · 2023: 25 · 2022: 32 · 2021: 46 · 2020: 35 · 2019: 16 · 2018: 17 · 2017: 12
FWCI
16.19
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, cc-by-nc-nd)
  • Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • Open University of Cape Town (University of Cape Town) (submittedVersion)
  • RECERCAT (Consorci de Serveis Universitaris de Catalunya) (submittedVersion, cc-by-nc-nd)
  • UNSWorks (University of New South Wales, Sydney, Australia) (submittedVersion, cc-by)
  • VUBIR (Vrije Universiteit Brussel) (submittedVersion)
Funders
Novartis Pharma AG
Topics
  • Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
  • Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
  • Health Sciences › Medicine › Surgery › Vascular Malformations and Hemangiomas
Keywords
tuberous sclerosis complex, disease manifestations, natural history (disease), epilepsy, intellectual disability, subependymal giant cell astrocytoma, renal angiomyolipoma, cardiac rhabdomyoma, facial angiofibroma, cortical tubers, hypomelanotic macules, shagreen patch, lymphangioleiomyomatosis
MeSH terms
Adolescent, Adult, Aged, Awareness, Child, Child, Preschool, Epilepsy, Europe, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Registries, Tuberous Sclerosis, Lymphangioleiomyomatosis, Angiomyolipoma, Young Adult

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