In order to provide the best possible care to patients with a rare condition, it is essential that global knowledge about the condition is gathered. Nationwide, centers of expertise have been set up to stimulate care for rare disorders and to gather knowledge. For the formal recognition of an expertise center by the Ministry of Health, an important condition is that the expertise center gathers, analyzes and shares knowledge through publications. These can be publications in scientific journals, but also treatment guidelines for health care professionals or information brochures for patients or caregivers. We optimize care and research within ENCORE through standardized follow-up and close collaboration between doctors and researchers. That way, we can ultimately develop better treatments for rare conditions. You may therefore be asked to participate in research. Participation in research is always on a voluntary basis. The data obtained is stored and analyzed in an anonymous form. All research has been approved in advance by an ethics review committee.
Genetic testing will be performed on all TSC patients seen in our center of expertise to determine the genetic cause and to be able to support and advise the parents. If genetic testing has already been done elsewhere, it will not be repeated. This genetic knowledge also helps us to better understand the effect of the genetic change ("mutation") on the severity of symptoms. We can then also investigate which treatment works best for a particular mutation. In rare cases, the genetic analysis is inconclusive. In these cases, the genetic change will be further investigated in the laboratory.
Detailed knowledge about the course of TSC (which symptoms and complaints are there, and when exactly do they arise) is of great importance in order to be able to recognize complaints early in the future and to treat them optimally. In addition, this is of great importance for drug research (trials). After all, only if we can demonstrate that a new drug improves the quality of life compared to an untreated patient, will the drug actually be approved and reimbursed. If parents / child / patient give permission, their data will be included in our database. We work together with the UMCU TSC expertise center in the Netherlands, which is in the UMCU.
In addition to permission to record these clinical data, you may be asked to provide a tube of blood for research. This blood is used to generate iPSC (induced Pluripotent Stem Cells) for research. Brain cells can be grown from these iPS cells. See the pre-clinical research page on this website for more information about iPS research.
Clinical trials for new treatments for TSC
Studies at ENCOCRE's lab showed that TSC mice treated with an mTOR inhibitor (Sirolimus or Everolimus) no longer have epilepsy (see our pre-clinical research pages). We also saw positive results after treatment with Cannabidiol (CBD).
Within ENCORE we have conducted two clinical trials to investigate if this also works in TSC patients:
RAPIT study: a study (double-blind and placebo-controlled) into the effect of mTOR inhibitory medication (Everolimus) on symptoms of autism and intellectual disability in children aged 4-17 years. 32 children participated and took medication for 12 months. Everolimus showed no positive effect on IQ or autism symptoms
RATE study: a study (double-blind, placebo-controlled) on the effect of mTOR inhibiting medication (Sirolimus) on seizure frequency in children with TSC and difficult-to-treat epilepsy. We saw a positive effect here. This has been confirmed in other studies and mTOR inhibition is now also used in clinical practice.
We have also participated in two large international studies for the treatment of difficult to treat epilepsy in TSC: with Everolimus (Novartis) and CBD (GW Pharma).
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