(St. Jude Children's Research Hospital (Memphis, Estats Units d'Amèrica))
(Claude Bernard University of Lyon 1. Reference Center for Rare Pulmonary Diseases. Louis Pradel Hospital. UMR754)
(UZ Brussel. Vrije Universiteit Brussel)
| Data: |
2019 |
| Resum: |
Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs. Due to the many manifestations of TSC and their potential complications, management requires the expertise of multiple medical disciplines. A multidisciplinary care approach is recommended by consensus guidelines. Use of multidisciplinary teams (MDTs) has been shown to be beneficial in treating other complex diseases, such as cancer. In a lifelong disease such as TSC, an MDT may facilitate the transition from pediatric to adult care. However, little guidance exists in the literature regarding how to organize an MDT in TSC. Methods: To discuss the best approach to assembling an MDT, this project was initiated in October 2017 with a meeting of 12 physicians from various specialties and various countries. Following this first meeting, the experts generated statements on the most important aspects to implement in establishing an MDT for TSC by 3 rounds of selection using a Delphi process via electronic correspondence. Finally, TSC patient advocates reviewed the findings and provided additional insights from a patient perspective. Results: A 3-step roadmap was recommended, starting with identifying a single individual to begin organizing care (Step 1), then establishing a small core team (Step 2), and finally, establishing a larger multi-disciplinary team (Step 3). Because of the multisystemic nature of TSC, the MDT should include specialists such as a neurologist, a neurosurgeon, a nephrologist, a urologist, a pulmonologist, an ophthalmologist, a cardiologist, a dermatologist, a geneticist, and a psychiatrist/psychologist. The MDT should recommend a care plan for each patient based on the individual's needs and in consultation with him/her or his/her family. Some of the most important aspects of an MDT that were agreed upon included identifying a case manager to help coordinate care, providing access to health care professionals of varying specialties, and including a lead physician who takes medical responsibility for patients' overall care. Conclusions: The results of our consensus provide guidance to support the initiation of an MDT in TSC. |
| Nota: |
Altres ajuts: The authors would like to especially thank Clare Stuart (Tuberous Sclerosis Australia, New South Wales, Australia) and Eva Schoeters (be-TSC vzw, Antwerp, Belgium) for their feedback on our work from the patient perspective. Editorial assistance was provided by Traci Stuve, MA, and Robert J. Schoen, PharmD, of ApotheCom (Yardley, PA, USA) and was funded by Novartis Pharmaceuticals Corporation. Jóźwiak was partly financed by the European Community's Seventh Framework Programme (FP7/2007-2013; EPISTOP, grant agreement no. 602391), the Polish Ministerial funds for science (years 2013-2019) for the implementation of international co-financed project and the grant EPIMAR-KER of the Polish National Center for Research and Development No STRA-TEGMED3/306306/4/2016. L Kerecuk has served as a speaker for and received travel honoraria from Novartis, and as a consultant for Roche Pharmaceuticals. JC Kingswood has received research grants (to his institution) from Novartis and has served as a consultant for Novartis. R Moavero has participated in advisory boards for Novartis and has research that was partly funded by EPISTOP. R Torra has nothing to disclose. V Villanueva has participated in advisory boards and symposia for Eisai, UCB Pharma, BIAL, Esteve, Novartis, and GW Pharma. Novartis Pharmaceuticals Corporation hosted the meeting of physicians that served as the basis for this manuscript and provided funding support for medical/editorial writing assistance. |
| Drets: |
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: |
Anglès |
| Document: |
Article ; recerca ; Versió publicada |
| Publicat a: |
Orphanet journal of rare diseases, Vol. 14 Núm. 1 (30 2019) , p. 91, ISSN 1750-1172 |
visitant ::
identificació
(St. Jude Children's Research Hospital (Memphis, Estats Units d'Amèrica))
