March 2021
It’s been awhile since we’ve sent a newsletter, but rest assured, your Emory ALS Center Team hasn’t skipped a beat these past months. In fact, we have been busier than ever with several clinical trials and studies that have begun (or will soon begin) and our telemedicine ALS clinics. You will find here an update on research, an invitation to support the 15th annual Fiesta 5k Challenge, which 100% supports our center, and an announcement regarding our research team leadership. 

Speaking of the research team, we want to thank Meraida Polak, RN for her many years of devotion to ALS research and patient care at Emory. It was Meraida who urged Dr. Glass to start the Emory ALS Clinic in 1997 and her devotion to making the lives of people living with ALS better has been constant. Meraida has begun a phased retirement plan, but will continue to work on our team part-time. 

ALS Research News
PICALS: Pathogenesis in C9ALS
WE NEED YOU! 
If you have:  
  • ALS
  • ALS caused by the C9orf72 mutation
  • Don’t have ALS but know you have the C9orf72 mutation
  • Are related by blood to someone with the C9 mutation but have not been tested

Dr. Glass and his colleagues at Johns Hopkins, The Mayo Clinic and Harvard/Massachusetts General Hospital have been awarded a grant from the National Institutes of Health to study the pathogenesis of ALS caused by a mutation in the C9orf73 genetic mutation. We will be studying sporadic ALS, C9ALS and healthy subjects who carry the C9 mutation. We are looking for pathways that we can target to treat ALS and change the rate of progression. We will also be looking at healthy carriers of the mutation to discover what happens when ALS first starts. In the future, we hope to be able to prevent ALS from starting and this is a critical part of that goal.   
 
This study is observational only; no treatment is being offered. Participants with ALS will not benefit in any way, other than to know that they are helping move science forward. Relatives who have undergone genetic testing and who know that they carry the gene may participate in the study. They will benefit from close observation by the ALS team and early identification of the onset of ALS, if it happens. 
 
Blood relatives of C9ALS patients who have not undergone genetic testing but who want to know their genetic status may also participate in the study. This group will receive genetic counseling and genetic testing at no charge. If testing shows that they carry the mutation, they will enter the study protocol.  

The study protocol includes visits initially and at 6 and 12 months. After that, participants can elect to continue with visits every 6 months as long as the study proceeds. Visits will include neurologic exams, completion of questionnaires (ALSFRSr, ROADS, ALS Cognitive Behavioral Screen), donation of blood samples and lumbar puncture to collect spinal fluid samples.

There is no cost for any study related activity. Participants will not be compensated and transportation and parking are the responsibility of the participant. Contact Karon Simmons at 404-712-4182 or via email.
Jane Bordeau, RN - Research Director
After 20+ years leading our research team, Meraida Polak, RN has transitioned into a part-time role as a clinical research nurse. We are thrilled to announce Jane Bordeau, RN as our new Research Director. Jane is a familiar face among our team, having been with us since 2010. She has been a nurse coordinator on our research team on many ALS clinical and research trials. Jane says her most gratifying aspect of her work is “getting to know our patients and research subjects and hopefully contributing in a small way to improving their lives and bringing us closer to a treatment for ALS.”
ALS research in the time of COVID has been different – but we are continuing to work toward understanding the causes and drivers of ALS. We at the Emory ALS Center continue to be actively engaged in research projects that range from basic questions about the causes of ALS to clinical trials of new drugs to treat people with ALS. Please read below to learn more about our research program and projects. 

Though much of our “wet lab” research has been on hold since March, our extensive ALS database and biobank allows us to continue to ask questions about the clinical features of disease (i.e. age of onset, rapidity of progression) and how that relates to protein markers in the blood and the brain, and what relationship these measures have to a person’s genetic makeup.

Some New Projects: 
  • In collaboration with investigators at the University of Massachusetts and the NIH, and funded by ALSA, Dr. Glass is working on generating a repository of whole genome sequences collected from ALS patients around the world. This will be a valuable collection of genetic information unprecedented in size and will be made available to any and all investigators who are studying any aspect of ALS.
  • The Emory ALS Center has just been funded by the National Institutes of Health to investigate “Pathobiology Neurodegeneration in C9ORF72 Repeat Expansion”. This project, in collaboration with investigators at the Mayo Clinic, Johns Hopkins, and the Massachusetts General Hospital will use animal models and human tissues to identify causative factors in patients with this form of genetic ALS.
  • We are well into the clinical trials of gene therapies for ALS patients carrying either the SOD1 or C9ORF72 genetic mutation. Promising results have just been reported [link to NEJM press release] and we continue to test these extraordinary new therapies. New trials are being designed and will soon be initiated for other genetic targets, and even for the possibility of preventing disease.
Signup Now for the Fiesta 5k
The 15th annual race for ALS is coming soon. In 53 days we will #runLOCO4ALS. We are still hopeful for an in-person event but there is always an option to register as a Virtual Runner. Remember we have a generous donor who is giving $1.00 for EVERY mile run/walked so WE NEED YOU to signup and get your 3.1 miles in on April 24, 2021.

Your participation and donations help the Emory ALS Center provide care and resources to PALS (people living with ALS), as well as contribute to the ongoing research taking place in the laboratory.