2 posts tagged “Rilutek”

Living with ALS: What We’ve Learned

Posted December 20th, 2011 by

Yesterday, our interview with ALS blogger and three-star member Rachael gave you a glimpse into what it’s like to live with ALS (Lou Gehrig’s disease).  Today we take a closer look using the data and experiences shared by our 4,844 ALS members, who comprise the world’s largest online ALS population.

Living with ALS: Some of the Most Commonly Reported ALS Symptoms (and Their Reported Severity) at PatientsLikeMe

ALS, which stands for amyotrophic lateral sclerosis, is a degenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord. Some of the most debilitating symptoms include progressive weakness, atrophy, fasciculations (muscle twitches), dysphagia (swallowing difficulty), and eventual paralysis of all respiratory function.  Other commonly reported symptoms are shown in the chart above.

Given the severity of ALS symptoms, the life expectancy of an ALS patient averages two to five years from diagnosis, according the ALS Association (ALSA).  However, ALSA states, “The disease is variable, and many people live with quality for five years and more.”  Rachael, who is six years post-diagnosis and living a busy, active life thanks to assistive technology, is a perfect example.

What does assistive technology entail?  For many ALS patients like Rachael, this involves the use of medical equipment to aid basic functions such as:

How well do these interventions work?  Click on each treatment name above to read evaluations from hundreds of patients about the effectiveness, side effects, cost and more.  In addition to these various types of equipment, one of the most commonly reported treatments for ALS is Rilutek, the first prescription drug to be approved specifically for ALS.  While it does not cure ALS or improve symptoms, it may extend survival or the time to tracheostomy (the creation of an artificial airway in the throat), which occurs when a patient is no longer able to breathe on his or her own.  Currently, we have 1,124 patients taking Rilutek, with 293 treatment evaluations submitted.

Some of the Side Effects Our Patients Report for the ALS Drug Rilutek

What do patients say about this drug?  We leave you with a sampling of comments that patients have shared on their treatment evaluations.

  • “One day I was having tremors in my left arm. I took the Riluzole [generic name for Rilutek] and one hour later the tremors stopped. I know it is helping.”
  • “I made a decision that 10% increased lifespan from onset was not worth being very sleepy all the time. I would rather require far less sleep each day than live slightly longer.”
  • “It is a slight pain because you’re not supposed to eat for two hours before or an hour after, and I’m trying to keep weight on.”
  • “I think this extended my time by at least six months. I started taking it about two months after my diagnosis. I’ve been told it’s more effective when you start taking it early like I did.”
  • “Quit taking due to elevated enzymes in my liver. Drug caused increased hunger, protein cravings, and very sluggish feeling.”
  • “Currently purchasing under Medicare as a tier 4 drug. When in the doughnut hole, the cost is approximately $985 per month.”
  • “We can never know if Rilutek does any of us any good. If it doesn’t seem to be doing any harm, I believe it is better to take it than not to.”

This is just a sample of the wealth of experience and data to be found at PatientsLikeMe.  Dive in today to learn more about ALS.


A new gene for ALS: What sharing your genetics could mean for research

Posted February 27th, 2009 by

In today’s issue of the journal Science two papers describe the discovery of a new gene for ALS (you can read the abstracts here and here). Around 90% of ALS cases are sporadic, i.e. we don’t know what causes them, but for 5-10% of patients the disease runs in their family (known as familial ALS, FALS). Until today, there was only one major causative gene that we knew about, called SOD1, which accounted for 20% of familial cases. Today’s new discovery of the gene FUS (also known as ALS6) accounts for an additional 3-5% of familial cases and was the result of an international collaboration between scientists in Boston, London, and Sydney. This is very exciting for research because the more we know about what causes ALS, the better our chances of finding an effective treatment through better understanding of the pathways involved in motor neuron degeneration.

Here at PatientsLikeMe, we’ve recently upgraded our ALS platform to capture data on familial ALS patients’ known genetic mutations. The goal is to help familial ALS patients find another patient like them, and to enhance understanding of the phenotype of each mutation, e.g. if different types of mutation cause a faster or slower disease progression. Ultimately our aim is to try and establish whether there might be any treatments that have a differential effect on patients with different disease-causing mutations. There are examples of this already known in other diseases; for instance the presence of absence of the Philadelphia chromosome in chronic myelogenous leukemia (CML) predicts whether the patient will respond to the drug Gleevec. Although there is currently only a single effective treatment for ALS (Rilutek), there are a number of trials underway investigating the potential of drugs for patients with specific gene mutations.

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The unique outcome data captured on the PatientsLikeMe platform also allows us to learn more about the nature of the disease for FALS patients with different genetic mutations. In the graph above you can see the average rate of progression for patients with three different FALS mutations; the common and aggressive A4V mutation (sadly average survival is ~18 months), the rarer recessive D90A mutation (much longer average survival of ~13 years), and a very rare and recently identified mutation of VAPB, referred to as ALS8. Collecting genetic data and combining it with high-quality patient-reported outcomes helps a patient to answer the question “Given my status, what is the best outcome I can expect to achieve, and how do I get there?”.

Note: If you have familial ALS and know your genetic mutation status please consider joining our ALS community and sharing your genetic information through your diagnosis history.

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