Summary presentation Professor Robberecht
Report Professor Robberecht
The scientific presentation was done by Prof. Robberecht from Leuven. To start off we got an explanation about what ALS is: our nerve cells send signals to our muscles. The nerve cells of the cortex and spinal cord are affected with ALS patients, which results into a ‘melt down’ of the muscles which results into atrophy and weakness. In about ¾ of the cases the illness starts in the limbs, in about 1/4th to 1/5th of the cases in the throat- and swallowing muscles.
Many wonder why it is not possible to make use of a blood test for the diagnosis. Such a blood test does not yet exist, which also makes it more difficult to predict the evolution of the disease. The diagnosis is done based on a clinical diagnosis, supported by an EMG. At first other conditions are expelled, that is why a lot of patients first need some scans.
About the prevention of the disease in our population, the Professor explains that per year about 2/100.000 people get ALS. There is a risk of about 1/250 – 1/400 to develop ALS, which actually means that this is barely lower than the risk of developing MS. These numbers are about the same in other parts of the world which means that environmental factors play a minor role. The illness is not more common in industrialized countries. In most cases the disease develops between the age of 45 and 70 years, with a slightly higher chance for the male population. At this point in time the symptomatic treatment (treating the spasticity, communication, feeding, respiratory functions (cfr. Lung specialist)). That is why it is important to get support from the NMRC (team of dieticians, speech therapists, physiotherapists,…). The only ‘real’ treatment currently on the market is Riluzole or Rilutek, a drug that slows down the disease. Some patients also experience less fasciculation. Also fasciculation is a bad parameter for the evolution of the disease. Actual research does not only focus on elements that slow down the disease, but also stabilize or even improve the condition.
Factors that might play a role in the cause: genetic, ageing muscle tissue, and surrounding (this has however never been proved). 90% of the cases are sporadic ALS, by contrast 10% have the hereditary form (SOD 1 gene which can be traced in the blood). This gene was detected in 1993 and caused a progress in the research, since as of then it was possible to create rats and mice with ALS.
Research has also been done into factors that might modify the disease (G93c mutation: a full family having the same malformation but the duration of the illness varied from 2 to 20 years). There are a varied range of modifying factors. If we would be able to determine them, it would be possible to postpone the initiation of the disease. Other research was done on flies, worms and fish that were given ALS, including the zebra fish model: an embryo of 30 hours old: observation of the motoric nerve cells (which break down in the case of ALS).
► Talampanel (Teva): riluzole-type product, peroral, safe (except for heart patients and people who are susceptible to the product (cfr. Sleepiness)), 3 groups: placebo/low dose/high dose (and thus a 60% chance of getting the product), study will take 12 months (everyone will be getting the medicine if it seems to work), 7 visits in Leuven, start October.
► TRO19622 (Trophos): peroral, safe, gives more support to the support cells of the nerve cells, placebo or medicine (50% chance of getting the product), study will take 18 months, 9 visits in Leuven + 1 by telephone, start hopefully in the spring of 2009.
► VEGF (Neuronova): vascular endothelial growth factor (is compared with insulin for diabetes): developed early 2000: mouse who had little of the substance, developed ALS and showed weakness and atrophy after 2 to 4 months: mouse with SOD1 malformation where the VEGF was decreased: the illness deteriorated quickly, in contrast to when the VEGF was increased, slowed down the disease less quickly. People with ALS also have less VEGF (is measured in the liquor cerebrospinalis). As such the study will be based on supplementing the shortage of VEGF (=fuel for motoric nerve cells). The disadvantages are that it cannot be given via the mouth, as such it is administered via a pump under the skin, in the abdomen (catheter, with a needle to the cerebrospinal fluid, + to spinal cord, + to center for swallowing muscles). The first 8 patients do not receive a placebo and will be followed up on during 3 months, afterwards they continue. The first phase is for sure the safety study, since they only know so far the safety with mice and apes. The start is planned at the end of 2008-beginning of 2009. The implementation is done under general anesthesia.
When participating into these studies you support the development of the medical research in ALS, you have to take every chance and if you get the medicine and it works, you will receive it lifelong for free.
The following questions were asked:
Vaccination stem cells?
As a treatment: chance of injecting stem cells: not directly, risk of abuse currently: Chinese doctor and Dutch doctors in Cologne.
Vaccination for hereditary ALS?
Lots of research, such as neutralizing substances against SOD1 with pump: for the near future, but only for 1% of ALS patients.
Which patients are eligible for VEGF?
Patients who are able to have a safe implant of the pump, who can tolerate general anesthesia + other criteria.
Which criteria are used to determine whether a remedy is working?
Based on lungs, muscle strength and survival, that why a study takes at least 12 months.
Has VEGF been tested abroad?
No, the first time it was tested on humans was in Leuven. First evaluation is done after 3 months with the first 8 patients after which more patients will be included in the study (placebo-checked in second phase)
ONO-study has been stopped, can I still participate in another study?
Yes, you will have to wait 3 months though, except if you were administered with a placebo in the previous study.
Age limit for VEGF study?
80 years
Role Q10, vitamin E, creatine en Rilutek?
Only creatine is no longer advised and this after a study in the Netherlands.
Role of lithium?
There is not enough evidence about the safety. Studies will follow to check this. It is dangerous (heart) + some patients felt as if they were deteriorating more quickly + can cause irreversible changes in the nerve system.
Transport during a study?
Each study is free and transportation costs are reimbursed.
VEGF in case of PLS?
No, only ALS.
Naltrexone (Low Dose Naltrexone)?
Narcotic antagonist, used in case of pain or inflammation.
Veronique De Sitter
Translation: S. Janssens
