Treatments and medical research

Which medicine for this disease?

It does not exist, so to speak, a medicine or a drug to cure Tuberous Sclerosis. However, several therapeutic options are available to decrease the symptoms of the disease. For example, Vigabatrin (Sabril) has proven its efficacy in the treatment of the infantile spasms.

We insist on the necessity of getting closer, as soon as possible, to a specialized medical team to obtain the best possible treatments, according to the patient’s symptoms. It is imperative to address TSC symptoms very early, in particular neurological symptoms, to reserve to the patient the best possible cognitive development.

Care pathways

In case of a TSC diagnosis, families have to follow a care pathway, to which they are entitled:

· consult in an expert center as quickly as possible (for example, a TSC reference center); a rare disease is by definition less known by the general practionners;

· the expert center then gets in touch with your regular doctor and/or with the local specialist;

· there are different protocols according to the age and the symptoms of the patient;

· in case of new symptoms and/or resistance to treatment, the local doctors have to readdress the patients to the reference center; families can also address directly to the expert center;

· after every visit in the expert center, the local doctors are informed; these local doctors aim at renewing the treatment, verifying the absence of side effects and insuring the normal follow-up;

We recommend to follow this scheme to avoid any delay in diagnosis or treatment which would cause adverse events. In case of any new symptoms, do not hesitate to inform your regular doctor as soon as possible and, if necessary, request urgent support from the expert center.

An European database, TOSCA, is currently being elaborated to collect medical information about 2,000 TSC patients in Europe.

An International Consensus Conference, involving 79 specialists from 14 countries, was held in 2012. The experts made recommendations and presented guidelines relative to the medical follow-up of TSC patients (you can have access to those recommendations by clicking here. These recommendations concern all patients, from childhood to adulthood.

What follow-up for this disease?

The medical assessments that have to be made in the case of a TSC diagnosis are the following ones:

· electro-encephalogram ( EEG) if there is notion of seizures

· brain imaging (MRI determines the number of tubers and the presence of sub-ependimal nodules)

· renal echography

· electrocardiogram and, if it highlights arrhythmia, cardiac echography

· ophthalmological examination (fundus in search of retinal phacoma)

· neurodevelopmental test to estimate the cognitive functions

· complete clinical examination in particular a throurough dermatological exam.  

The implementation of a regular and multidisciplinary medical follow-up is necessary for TSC patients, and in particular neurological and renal follow-ups. From adolescence to adulthood, a neuropsychiatrist can also be of a big support to relieve families in the case of behavior disorders (routines, aggressiveness, depression).

Which Medical research for this disease?

These last years, medical research dedicated to TSC has developed in several specialities. It has brought new advances in the disease understanding and management.

The main advances concerning the disease are relatively recent: 

- The genes responsible for the disease (TSC 1 and TSC 2) were discovered in the 90s.

 - Vigabatrin ( Sabril) was approved in the 1990s for infantile spasms.

- Since 2005, several preclinical and clinical studies were conducted with rapamycine. Rapamycine is a molecule isolated by a team of Canadian researchers from a filamentous bacterium, Streptomyces hygroscopicus, coming from the ground of the Easter Island. It is known since the 80s to be a powerful immunosuppressor, used in the treatment of some cancers.

Clinical trials related to TSC were led in 2012 with rapamycine analogues. They were launched in the market and approved in the United States and in Europe, in precise indications (SEGA without possibility of surgical resection, angiomyolipomas of important size, refractory epilepsy). The results of these clinical trials seem encouraging but have to be confirmed; in particular two points are questionable: the long-term tolerance of these molecules and a better evaluation of potential side effects. Do not hesitate to speak about it with your doctors for more detailed information.

If you wish to know the list of the current clinical trials about TSC, you may go to www.clinicaltrials.org.

If you wish information on scientific publications relative to TSC, consult Pubmed, the online American Library of medicine.

Every year, an international TSC medical congress is organized in the United States or in Europe. A « Global Awareness Day » is taken place on May 15th, to raise awareness about the disease and develop scientific researches.

It is reassuring and promising to notice the large number of research projects relative to TSC. This should lead to the development of new treatments and steps forward to cure the disease.