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- 2002 Annual meeting - Conference and discussion
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November 16, 2002 - Annual Meeting of members
Scientific and medical conference - Medical discussion

Professor Elisabeth TOURNIER-LASSERVE
Professor TOURNIER-LASSERVE, in charge of genetic Research in France, announces two major communication actions: one towards the general public in France and the second one during a scientific congress in the United States.
  • A general communication campaign will be organized by the French INSERM (Institute for medical research) on various health subjects during the second half of January, 2003.The CADASIL France association has been invited to take part in some events, which is a good opportunity for making this disease and the association better known. On the 25th of January, a conference will be held on small vessel diseases, and particularly on CADASIL.
  • Doctor Anne JOUTEL, working in the genetic laboratory, is presently taking part in a congress on vascular diseases in the United States where she will present the present situation of genetic research works on CADASIL in France.
Mrs TOURNIER-LASSERVE describes the present situation of genetic research on CADASIL:

Once the CADASIL gene was identified, it became rapidly necessary to obtain an animal model in order to have means for better studying the disease's mechanisms and for being able to test some treatments that might repair the consequences of CADASIL. This animal model had to present the same characteristics as the human form of the illness, and particularly to develop the same lesions in the vessels' walls.

On human beings, the lesions in the vessel's walls can be detected thanks to a skin biopsy by using an antibody that specifically recognizes the Notch 3 gene. This receptor can only be found in vessels and more precisely in the muscular cells that control their contraction capacity.
In the case of persons suffering from CADASIL, an accumulation of Notch3 protein can be observed in the vessels' walls. Some anatomopathologists have shown that the accumulation of a G.O.M.-named material (Granular Osmiophilic Material) is quite specific to the disease.

Some transgenic mice have been generated by introducing in their genome a Notch3 gene with the most frequent mutation met in CADASIL families. When these animals grow, they have GOM patches that are near to those found when performing a vessel skin biopsy by an affected person. The animal model can therefore reproduce the same lesions as in the human beings' vessels walls, with the GOM layings that characterize CADASIL.

For a long time, these mice didn't present any symptom. But after 24 months (knowing that their average life expectation is 30 to 32 months), they now begin to become ill and some of them die rapidly. The analysis of prematurely dead mice's brains is now under way. The brain blood flow in still living ones is also being evaluated.

These research works require a lot of time. Some studies are presently made for accelerating the appearance of lesions in the vessels' wall or for cultivating some smooth muscular cells in which the mutated gene has been introduced. Doctor Anne JOUTEL will describe these research works during a future meeting.

As far as potential treatments are concerned, we must first of all better understand the role of the Notch3 receptor inside the muscular cells of vessels. The knowledge of this protein's role is progressing and researchers begin to understand how the abnormal protein could disturb the functioning of muscular cells.

Treatments will probably not belong to the field of genetic therapy, which is more adequate for genetic blood circulation diseases and for cancers. Conventional medicines will probably be used.

Professor Hugues CHABRIAT explains the current state of neurological Research with Magnetic Resonance Imaging:

During the previous years, researchers have studied the links between the disease's symptoms and the extent of lesions that were observed in the brain material through Magnetic Resonance Images. It was noticed that some patients had substantial damage in their brain's white matter but still didn't present any symptom of the disease. On the contrary, some others had relatively small lesions but might be more affected by the disease.

With the diffusion MRI technique, Professor CHABRIAT's team has shown that it was possible to better measure the extent of lesions in the brain matter during the disease's course. These measures performed thanks to the diffusion imagery give a clearer indication of the gravity of the disease, which is not the case by simply observing lesions shown as white spots by traditional imaging means.

Some participants to the CADASIL France 2002 general assembly have already taken part in this study, which has also permitted to measure how brain lesions grow through time. Up to now, with the simple MRI observation, no significant data on the evolution process of brain anomalies had been collected.
Through the precise measures obtained by diffusion imagery, it is now possible to notice significant changes. These results are quite important: when a treatment will have to be tested among affected persons, efficient tools will be required in order to rapidly notice the impact of the medicine in comparison with a placebo, without having to wait for the evolution of symptoms.

In order to better take care of affected persons, to confirm the results of the first MRI studies and to better understand the evolution of the disease on a clinical point of view, Prof. BOUSSER and CHABRIAT have proposed to organize a large scale standardized follow-up survey of French patients by the Lariboisière hospital in Paris, within the frame of a research program. They have recently obtained the approval and important financial means have been allocated to this Research protocol. During this three-years program, 200 persons who have being diagnosed with the CADASIL mutation will have the same MRI exams each 18 months and the same clinical exams twice a year. This project will be launched beginning of 2003 and will be conducted in parallel with Professor Martin DICHGANS' team in Germany that works on the same subjects. This will permit to get a lot data on the disease.

As far as treatment hypotheses are concerned, medicines helping to protect the brain tissues against a decrease in blood circulation would probably have to be considered. Some laboratories developing these kinds of molecules have been contacted. When the above-described patients follow up is under way, it will be easier to convince them of the need to participate in testing some medication.

Mrs Claire GOBRON, intern in neurology, explains a Research program that is being performed at the present time on brain, brachial and skin blood circulation concerning CADASIL affected persons.

The objective of this other research program is to find functional indicators of the small vessels disease, by studying the reactivity of vessels in the skin, in bigger vessels like the brachial artery (in the bend of elbow) and brain vessels by using ultrasonic measures. These markers could also help to better understand and track the evolution of the disease and might also be used later for measuring the results of a medicine test.

These exams include for instance capillaroscopy measures (optical microscopy), the measure of blood flows by a laser-doppler (with a catheter on the back of the finger) and the ultrasonic study of brain blood circulation. They also include a very precise evaluation of memory, concentration and speaking capacities, as well as a neurological check-up.

Volunteers for taking part in this study are required, half of them affected by CADASIL and others not having it, as comparison and control subjects. ♦

Written by Chantal NEAU

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Creation date : 12/03/2009 @ 18:27
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