Genetic ALS & FTD: End the Legacy

As advocates for people in families impacted by genetic ALS and FTD, we are staking a claim to insights into patient needs for drug development in these diseases. We need to get cures not only for ourselves and our children but also for generations down the line. This week, we are looking at ways in which clinical trials, especially in symptomatic ALS, could work better towards that goal. Later this week we will debut a position statement. An issue that has had confusing claims around it is how long clinical trials should be for ALS or FTD. Short trials do not allow clear clinical or symptomatic effects to be observed. Most important to this, and ignored in discourse, is that patients may present at the start of a trial with the same ALSFRS score and function but may have vastly different existing damage to their neurons- this is due to the known property of ALS that motor neurons sustain large damage before any functional impairment threshold is reached. Therefore, a small amount of further damage to one patient could produce functional decline, while a large amount of damage to another could still be below the threshold needed for any functional decline! More time is the best control for this. Patients deserve answers. #patientsincluded #nothingaboutuswithoutus #als #ftd #c9orf72 #ittakestime

Today, we are weighing in on matters related to drug development and clinical trials in symptomatic ALS and FTD. Should trials be designed to serve the small number of participants in the trial or all patients now and in the future? Serving all patients today and into the future is the most important goal of drug development in ALS and FTD. The best way for a clinical trial to serve patients is to deliver as definitive an answer as possible on an investigational agent's efficacy. In the coming days, we will see where drug development in ALS could do better for patients with this frame in mind. At the end of the week, we will debut a position statement that will sum it all up. #patientsincluded #nothingaboutuswithoutus #als #ftd #c9orf72

Many cheers to the amazing genetic FTD advocate Wanda, who pulled off an amazing awareness event at the @alzheimerssd annual walk this month. Pulling together genetic FTD advocates from Genetic ALS & FTD: End the Legacy , @fortheirthoughts, @curevcpdisease, and The Association for Frontotemporal Degeneration (AFTD) , hundreds were engaged at this huge event. Let's all celebrate collaboration and hard work! #teamwork #collaboration #geneticFTD #dementia

We hosted Dr. Andrew Douglas, a geneticist of Oxford, last week for a fascinating peek into his new work establishing the ability to provide personalized penetrance estimates for people impacted by C9orf72. Watch the recording of this event, and find many other fascinating talks on our webinars page! https://lnkd.in/gypFAQvf #c9orf72 #oxford #precisionmedicine #atriskalsftd #endthelegacy

We are so thrilled to celebrate our own leader Cassandra Haddad as she speaks on the big screen at the NEALS Annual Meeting today. Please tune in at 1 pm ET today to watch her remarks on the Research Ambassador Panel. You will hear how SOD1 ALS has impacted her family Cheers to NEALS for centering patient advocate voices and for the transformational Research Ambassador program! #patientsincluded #nothingaboutuswithoutus #neals #sod1 #endthelegacy #atriskalsftd

This is your last chance to sign up for a fascinating talk from Dr. Andrew Douglas of Oxford on his new work establishing a way to calculate family-specific penetrance based on pedigree data for those impacted by the ALS and FTD-linked gene variant the C9orf72 repeat expansion. This Thursday, October 17th at 9 am Pacific ( 5pm in the UK ) . https://lnkd.in/gBbQqkMc

Our October Peer Support Hour for those impacted by inherited or genetic ALS or FTD is this Wednesday at 6 pm Eastern! Sign up using the link below if you would like to attend. The support hour is an informal gathering of people impacted by genetic ALS and FTD , mostly those at risk of the disease and hosted by impacted volunteers. Unlike our weekly community team meeting, there is no business other than providing a space for connection and community. https://lnkd.in/gQjt5uXz

Our final concern shared in our ISFTD report back is a somewhat technical one - but still of vital importance. This issues is of legal interpretation rather then science, but it has health implications. Some have posited that being told one is in a state defined in medical literature as being an early sign of ALS or FTD either biologically or via mild symptoms is a state that an employer could willfully and with clear intent fire you over. This, of course, is as opposed to nearly any other medical condition which are protected from such discrimination in the United States via the Americans with Disabilities Act. We credit disease experts who hestiate to affirm a new label which is not yet well established is a medical condition, but we also believe judges and regulators are not so beholden to academic convention. Additionally, we shared that the ADA covers acts that discriminate on the mere belief someone is impacted by a disease no matter if they actually are. So under either heading, people knowing they are in an early stage of disease would be protected from discrimination on that front by the ADA.

This week, we are detailing concerns we walked away with after attending the largest FTD research meeting of the year. Today's subject is of great importance to our community. Is it reasonable to speculate on the cognitive ability of a group of people based on an immutable characteristic? Specifically, is it in our best interest, or even true, to say C9orf72 carriers are "significantly cognitively impaired'? If we are demeaned why would we ever take part in research? Are researchers informing participants they want to prove this when they recruit participants? The cure should not be worse than the disease. #nothingaboutuswithoutus #patientsincluded #c9orf72 #als #ftd

Last week we shared our report on concerns we took away from the largest FTD research meeting of the year. The first concern is paramount to get right - the lack of consideration of the ALS pipeline as being relevant to FTD, especially TDP-43 FTD, which includes C9orf72 FTD. We cannot let any neuron be wasted when therapeutics come into existence that have perfectly reasonable cross-phenotype biological applicability! #FTD #ALS #C9orf72