Author Archives: MOFF

Raising Local ALS Awareness

The New Times SLO recently published an article on The Martha Olson-Fernandez Foundation. The reporter, Karen Garcia, does a good job of touching on the origins of MOFF, providing a glimpse into the annual events, and highlighting MOFF’s two critical programs: ALS patient care and research.

In the upcoming months, MOFF looks to do more to raise ALS awareness in San Luis Obispo (SLO). If you live in the SLO community and are interested in this initiative, please reach out to us via our “Get Involved” page.

CRISPR and ALS

Brief Overview

CRISPR is a highly specific and efficient genome editing technology. CRISPR facilitates the addition, deletion, or alteration of an organism’s DNA (NIH). If you would like a more specific explanation of CRISPR, feel free to watch the 1:39 video from the Mayo Clinic below.

As one can imagine, this is exciting and simultaneously, terrifying technology. It holds incredible potential for countless rare, genetic diseases. The concept of curing a disease by removing a faulty gene, is not new, but CRISPR is definitely one of the more cost-effective and reliable ways to do so. Thus far, CRISPR technology has been tested on many rare disease areas, including cancers, sickle cell anemia, Huntington’s Disease, Alzheimer’s Disease, and ALS. In 2018, Target ALS provided CRISPR Therapeutics with a 2-year grant to study ALS and Frontotemporal Dementia (FTD). We are excitedly awaiting those results.

Current CRISPR Challenges

The success of CRISPR technology depends on the structural validity of in vivo disease models, meaning how well the animal model of the disease actually portrays the disease in humans. The ALS field has historically struggled with this issue. CRISPR success also depends on the capabilities of high throughput genome mapping technology, meaning, how much knowledge we have about the genome we will be editing. As we observe these two key elements (animal model validity and genome mapping technology) becoming more efficient and reliable, we will begin to see very obvious therapeutic results from CRISPR.

Another roadblock to CRISPR’s usage in ALS is the fact that sporadic ALS is a messy disease. Messy meaning there are often a number of genes that contribute to the disease manifestation. Not only that, but these genes are not all ‘bad’ genes, but they are mutated in some way. For example, the protein C9orF72 is indicated in both familial and sporadic ALS. The normal function of this gene is to “influence the production of RNA from genes, the production of proteins from RNA, and the transport of RNA within the cell” (NIH). In ALS, C9orF72 is expressed as a hexanucleotide repeat expansion. If you program CRISPR technology to eliminate C9orF72, you may eliminate ALS, but you will also eliminate all the normal function of the protein, which could be deadly.

CRISPR Breakthroughs

Treatment of a Mouse Model of ALS by In Vivo Base Editing

In this study done at the University of Illinois, ALS disease progression was slowed in mice when CRISPR was applied. Researchers utilized cytidine base editors (CBEs) to remove SOD1 gene expression. “CBEs are a type of CRISPR single-base editors that change specific nucleotide bases in a DNA sequence” (ALSNewsToday). The result of using this type of CRISPR technology is that it does not delete the SOD1 gene, but rather it induces a ‘stop’ signal early in the gene expression so that it cannot progress to be a mutant SOD1 gene. Very cool.

The most common CRISPR headline you will see in relation to ALS is this one:

CRISPR reveals possible ALS drug target

In this particular study, a research team at Stanford used CRISPR to effectively ‘knockout’ or cut random genes out of the genome so that they observe “genes that protect neurons against the toxic effects of protein aggregates by being inactivated” (FierceBiotech). Their study revealed that “knocking out a gene called TMX2 prevented cell health in mouse neurons.” In the ALS world right now, finding possible therapeutic targets is a huge deal and most researchers are hard at work knocking out genes to do so.

The final, and arguably the most exciting, CRISPR breakthrough is highlighted in these two articles:

CRISPR-based method allows for reversible RNA editing

RNA-targeting CRISPR could yield treatment for Huntington’s and ALS. 

The methodology behind this concept is mind-blowing. This article is from 2017, but they are still fine-tuning the science today. Researchers at the Broad Institute have dubbed the technology: REPAIR (RNA Editing for Programmable A to I Replacement). How does it work? To start, one has to understand the basics of transcription and translation. Here is a crude summary: DNA is transcribed to RNA which is then translated into proteins. This technology does not cut DNA, but instead, it binds to RNA and effectively changes one nucleoside in the RNA helix. Therefore, when RNA goes to translate into a protein, it will encode for a properly functioning protein instead of a mutant protein involved in disease progression. Amazing.

Woof, that was a lot of science. Thank you reading if you made it to the end. To conclude: CRISPR Technology holds incredible potential for ALS and other rare diseases. Researchers just need to perfect it in a lab so that when it is applied to humans, no one comes out missing a limb :).

COVID-19 Impact on ALS Clinical Research

depict COVID-19

COVID-19 Impact on ALS Clinical Research as of July 23, 2020


Of the 95 ALS clinical trials that are currently active in the United States, only 5 were suspended due to the COVID-19 pandemic. Also, many trials that were starting their enrollment back in March, have paused their enrollment processes for the time being. Overall, the ALS research community has been incredibly adaptable. Telehealth, laboratory shift work, and continued perseverance define today’s ALS research atmosphere. The staff at MGH working on the HEALEY Platform Trial has reassured everyone that they are hard at word on the behind the scenes protocol establishment and site readiness preparations.

We are all reminded that ALS does not stop during a pandemic. It is still 100% fatal. Every 90 minutes someone dies from ALS and every 90 minutes someone is diagnosed with ALS.

How I AM ALS is Influencing Clinical Trials Design

medical environment

I. What is wrong with the current ALS clinical trial landscape?

I am going to answer this question with a vignette: An individual with ALS decides to enroll in a clinical trial that they found on ClinicalTrials.gov. They check to see if they meet the trial requirements and are pleased to learn that the trial includes their type of ALS. Not only that, but the trial site is located close to their home and only requires one visit every two weeks.

This story is invented. It rarely happens that way.

Information about enrolling in ALS clinical trials is not readily available to recently diagnosed ALS patients. The trial information that is available, is not easily comprehensible for those not in the clinical research field. Even if a patient knew what a clinical trial was and started looking on clinicaltrials.gov, they would spend months sifting through phases, mechanisms of action, enrollment criteria and maybe, just maybe, they would find a trial that does not exclude them. How can you be excluded from a trial? Below is the exclusion criteria for a ALS dietary supplement trial that started in 2017:

  • Forced vital capacity <40% of predicted
  • Dependence on mechanical ventilation for more than 12 hours per day
  • Exposure to any experimental agent within 30 days of entry or at any time during the trial
  • Women who are breastfeeding, who are pregnant or are planning to become pregnant
  • Women of childbearing potential not practicing a medically accepted form of contraception
  • Enrollment in another research study within 30 days of or during this trial
  • Mini-Mental State Exam (MMSE) score <20
  • Patients with symptomatic cardiac disease or hypercholesterolemia
  • Patients with myocardial infarction within 6 months of this trial
  • Renal dysfunction defined as BUN and creatinine >2xULN
  • Known mitochondrial disease
  • BMI<18.5
  • Prior use of a 4:1 ketogenic diet or Atkins diet within 1 month of this trial
  • Impaired liver function, defined as AST or ALT of 3xULN
  • Patients who have a pacemaker or other internal electronic medical device
  • Known allergy or hypersensitivity to milk or soy products.

Yes, if you are allergic to soy you are disqualified from this trial…you get the point.

Exclusion criteria is only one of the many hoops ALS patients must jump through before they find the trial that is right for them. The length of ALS trials usually prevents the majority of patients from being able to complete them due to their rapid disease progression. Not only that, but what if you spent 6 months in a clinical trial in which you were a part of a placebo group? At that point, you spend 6 months not receiving an active drug, and you are probably disqualified from joining other trials. Okay, what if you are receiving the active drug? There probably weren’t any biomarkers that tracked your disease progression, so you would never know if your disease stopped progressing due to the drug or if you just had a slow progressing form of the disease. The list goes on…

II. What is I Am ALS?

I AM ALS is a patient-led ALS organization that was co-founded by Brian Wallach and his wife, Sandra Abrevaya, in 2019. Brian was diagnosed with ALS when he was 37 years old. He has an incredible story that has been told on several platforms. This video is a does a great job of visualizing it. I AM ALS empowers and enables people living with ALS. They are inserting the patient voice into politics and drug development and making sh*t happen. What exactly are they doing? I AM ALS has 3 key focuses: Advocacy, Patient Services (Navigation Program) and Research. This blog post focuses on their advocacy work.

III. What is I AM ALS doing to fix ALS clinical trials?

I AM ALS is visiting drug developing companies and introducing their Patient Centric Trial Design (PaCTD). What is PaCTD? It is a five star rating system that demands the following (this list is not exhaustive):

  • Scientific justification for all exclusion criteria
  • Minimization or elimination of placebo controls (e.g shared placebo group)
  • Use of biomarkers
  • Open label extension available for all trial participants
  • Use of novel methods for data capture
  • Unblinded Independent Intern Efficacy Review Board” (IRB) to review trial results while in progress to identify subsets of patients who are benefitting
  • Significant consideration for access to Compassionate Use (e.g Expanded Access)

The companies’ trial designs are rated according to how well they address the requirements in the PACTD. It is important to note that this rating scale does not in any way comment on the efficacy of the ALS trial. It is simply a way for people living with ALS to select the trial that most humanely considers their trial participants.

The PACTD requirements have the potential to impose serious financial strain on drug developing companies. They also have implications in the IND-enabling studies which happen well before Phase I clinical trials. That is why the I AM ALS constituents are meeting with drug developers early in their development process.

This is a time of true clinical trial innovation. I AM ALS is making drug development companies uncomfortable, but in the best way. In a way that demands critical thinking and promotes improvement. Patient centricity is not the end to profitability.

8th Annual MOFF Golf Tournament: October 3, 2020

The 8th Annual MOFF Golf Tournament will take place at Cypress Ridge Golf Course October 3, 2020. Register today!

Click to Register
 
 

Click the image below to review this year’s sponsorship opportunities and fee structure.

COVID-19 Precautions

  • Individual tee time format instead of a shotgun start. Golfers will tee off every 8-9 minutes from 7:30 AM to 11:30 AM. As we get closer to the event, a MOFF representative will inform you of your tee time
  • 120 in-person golfer limit 
  • Virtual golf packages are available
  • A virtual silent auction will be held online and an in-person 50/50 raffle will take place at the course
  • Guest speakers will be featured on the MOFF golf tournament event website.
  • CA mask guidelines and social distancing regulations will be followed at the tournament
  • Temperatures will be taken 
  • All golfer merchandise will be handled with gloved hands 
  • Hand washing and hand sanitizer usage is highly encouraged 
  • Non-golfer visitors are discouraged (but we love you guys)
  • No awards ceremony this year. Winners will be announced on the golf tournament event website and social media channels. In addition, prizes will be distributed to 1st, 2nd, and 3rd place winners after the scores are determined. 
  • No Tapas Reception
  • Volunteers must sign up ahead of time. Please do so here

Golfers: Please bring your cell phones to the golf course. Check-in, auction activities, mulligan purchases, and course games will be conducted via your mobile devices. Thank you! 

PCAC Involvement

Natalie Fernandez recently became a member of the Patient and Caregiver Advisory Committee (PCAC) at the National Chapter of ALS Association (ALSA). The PCAC is co-chaired by John Russo and Ken Menkhaus who are both incredibly knowledgable and influential ALS advocates. If you are interested in learning more about their perspective, Ken has a blog called, Ken’s Caucus. The PCAC currently has 20 members and each member serves two year terms. The purpose of the committee is to provide informed guidance to ALSA and the ALS Focus Steering Committee. Responsibilities of the committee members include: Generating survey topics, reviewing survey questions, and ensuring patient and caregiver authenticity.

Natalie is honored to be a part of the PCAC. ALSA staff works hard to provide care and support for ALS families. They are also the largest funder of ALS research projects in the world, which is pretty incredible considering they are a nonprofit. While Natalie is aware of the tension that exists between ALSA and more grassroots ALS movements, she is excited for this opportunity to focus and inform initiatives that directly affect families living with ALS. In the words of Sandy Morris, “We are all fighting for the same thing. When we find that we are fighting each other, we are on the wrong path.” It through collaboration and focus on our shared goal that we are going to find a cure for ALS.

1 in 300

1 in 300 is the lifetime risk of anyone developing ALS

This 1/300 statistic is important. Why? Well, there are many reasons why. This post addresses two of them.

    1. Public perception of ALS

The standard prevalence statistic that people hear about ALS is that every 5 people out of 100,000 will get ALS. This is makes ALS seem abstract to the point that when a person actually has ALS, they do not seek medical attention or entertain the concept until their disease has already taken a toll on their bodies. Also, have you every wondered why so many people have had family members or friends affected by ALS and you didn’t know about it? That is because the person with ALS dies. This is a heavy realization. Each person with ALS lives on average 2-5 years. Just because there are few people living with ALS in our community right now does not mean that people have not been affected by it.

    2. Medical community awareness of ALS

Doctors are pattern recognizers. Depending on their practice, whether it is neurology, dermatology, or optometry, they are trained to look for patterns and ask questions or run tests to confirm or deny their suspicions. Unless you are an emergency room physician and trained to expect the worst, rare diseases are not the first diagnosis doctors jump to. Therefore, if we increase awareness of the prevalence of ALS and use the 1 in 300 statistic, we could increase a doctor’s index of suspicion towards the disease. Index of suspicion is defined as: “The level of suspicion that a disease or condition is the underlying diagnosis based on the available findings in a patient.” Just maybe, the 1 in 300 lifetime risk will allow a primary care physician to think that their patient’s hand weakness is not a sports injury, but maybe has neurological origins.

Resources

Index of suspicion definition
ALISON GOWLAND1 , SARAH OPIE-MARTIN1 , KIRSTEN M. SCOTT2 , ASHLEY R. JONES1 , PUJA R. MEHTA1,3 , CHRISTINE J. BATTS4 ,CATHY M. ELLIS3 , P. NIGEL LEIGH5 , CHRISTOPHER E. SHAW6 , JEMEEN SREEDHARAN1 AND AMMAR AL-CHALABI1, (2019) Predicting the Future of ALS,

ALS/MND International Alliance Scientific Advisory Council Meeting

MOFF attended the ALS/MND International Alliance Scientific Advisory Council Meeting on June 17th (at 4 AM PST). It was worth it. The event was hosted by The ALS Association and featured neurologists from 10 different countries.

Who attended this International Advisory Council Meeting?

Dr. Jeanine Heckmann (South Africa)

Dr. David Taylor (Canada) – facilitator

Dr. Kuldip Dave (USA)

Dr. Nicolas Cole (UK)

Dr. Caroline Ingre (Sweden)

Dr. Gethin Thomas (Australia)

Dr. Piera Pasenelli (USA)

Absent: Dr. Qing Liu (China), Dr. Adriano Chio (Italy) and Dr. Luis Barbeito (Uruguay)

What did they discuss?

The main discussion topic was prompted by the facilitator, David Taylor. He began the meeting by encouraging participants to share what they are most excited about in the ALS/MND field. Responses varied, but there was a general consensus around 3 topics:

1. Platform trial design

The Tricals Platform Trial (UK) and the Healey Platform Trial (USA) design are both incredible tools to test new therapies for ALS. They are not only cost-effective, but time-efficient and patient-centric as well. The platform concept was originally implemented in oncology, and in 2019 was adapted to the ALS field. Historically, trials have required a 50/50 placebo control. In cancer and ALS, the fatality rate of these diseases make it almost unethical to put a patient in a placebo control group. The platform trial takes this into consideration; only 1/3 of patients will receive a placebo and for a shorter duration (6 months). The platform trial design allows for more therapy options to be tested at once: 5 for the Healey Trial and 2 for the Tricals Trial. The treatments being tested in the Tricals Trial are Lithium Carbonate and Triumeq. Read the MOFF article on the Healey Trial to learn what treatments are being used in the U.S. trial.

Dr. Pasenelli and Dr. Cole had a productive dialogue about comparing trial outcome measures. This discussion occurred after Dr. Cole claimed the Tricals Trial had more outcome measures than the Healey Trial. While this is likely because the FDA bases it’s outcome measures on the ALSFRS-R score and the EMA bases their outcome measure reporting on survival, a more thorough comparison is warranted.

2. Gene therapies

Gene therapies are the future! It is not an unrealistic claim to say that specific genetic forms of ALS will be curable within the next 2-5 years. Researchers are targeting ALS cases with the SOD1, FUS, and C9orF72 genetic mutations. Two examples of such therapies are Tofersen (Biogen) and AVSX-301 (Avexis/Novartis). Phase 3 trials of Tofersen are currently being conducted in the U.S. and multiple other countries including Japan, Canada, and Italy. The aims of these gene therapies are to replace genes, silence genes, or deliver proteins that boost motor neuron function. Currently, the two most promising ways to deliver these therapeutic benefits is via Adeno-associated viruses (AAVs) or Antisense Oligonucleotide (ASOs).

These gene therapies are the first to modify ALS disease progression. This is amazing given the fact the three current FDA approved medications for ALS simply claim to extend patients’ lives by 3 or 6 months. What is even more incredible about the development of gene therapies for ALS, specifically, Tofersen, is that Dr. Alan Smith wrote about this therapy in his book: Handbook of Amyotrophic Lateral Sclerosis. It was published in 1992. Patients are finally gaining access to treatments that have been conceptualized almost 30 years ago.

Keep in mind that these genetic therapies will only be effective for 10% of the ALS population. That being said, C9orf72 has implications in the sporadic form of ALS as well so whatever pathogenetic insights they extract from these ongoing clinical trials, will inform future studies done for sporadic ALS.

3. Biomarker usage

We can finally objectively measure if drugs are slowing ALS disease progression! “Biomarker” has been a buzz word in the ALS community for years. A biomarker, loosely defined, is a biological sample that can be used to screen, diagnose or monitor disease progression. The majority of  excitement during the meeting was centered on the use of pharmacodynamic biomarkers, in upcoming clinical trials. Below is an image of the many potential measurements of ALS disease progression that newer trials, specifically the Healey Platform Trial, will incorporate.

(Image adapted from a 2019 Mass General presentation on the Healey Platform Trial. The presentation was led by Dr. Sabrina Paganoni and Dr. Ben Saville)

For the sake of time and space, this post will not going into the details of each measurement. More information can be found in this Frontiers article. The second takeaway from council’s the biomarker discussion was one of hope. Dr. Pasenelli described an important perspective shift that has occurred in the ALS research community. To paraphrase, she recognized that 7-10 years ago, researchers joined the ALS therapeutic area for the general, rather unexciting discipline of researching. Now, each ALS research investigations could lead to a potential therapeutic target or a biomarker discovery. The hope of actually discovering something is alive and is encouraging more individuals to join the field. This was incredibly encouraging to hear.

Sidenote:

South Africa:  South Africa gets their own blurb because during the meeting it sounded like Dr. Jeannine Heckmann was on a literal ALS battlefront. She began the meeting by stating there are only 3 interdisciplinary clinics in South Africa and the some of the medical professionals attend the clinics once a month. Dr. Heckmann went on to share a very moving story about recent ALS diagnosis she had to give while the patient was already in need of a ventilator and there were limited ventilator resources. Their country has limited resources to Rilutek, which is 10-15 years behind USA standards. In conclusion, Dr. Heckmann is a saint and needs back up. Also, the South African ALS patient community needs support ASAP.

Thank you to all the ALS/MND Internationals Alliance Scientific Council Members! We greatly appreciate all of your contributions to the ALS field. 

 

 

A Solution to the ALS Diagnostic Delay

The amyotrophic lateral sclerosis (ALS) diagnostic journey is unique to each individual. It has puzzled neurologists, been mistaken for allergies or back issues by physicians, stressed out families, and most significantly, it has prevented patients from knowing what is affecting their body.

The median diagnostic delay for a person living with ALS is 12 months (Martharan, 2020). In other words, from the time of their first symptom onset, it takes roughly a year to positively diagnose someone with ALS. Not only that, but each person living with ALS sees an average of three different physicians before receiving their ALS diagnosis (Paganoni, 2014). In the world of rare diseases, this diagnostic delay is not uncommon, but on a patient level, this lag can be life threatening. Not only does the delay prevent patients from seeking the correct medical attention for their symptoms, but it also reduces the time frame a patient has to enroll in clinical trials.

So, if it really takes a year to get diagnosed with ALS, where does all the time go? According to peer reviewed literature, there are three key stages that have quantifiable lags (Paganoni, 2014).

    • Time from symptom onset to the first doctor visit: 4 months
    • Time from the first doctor visit to a suspected ALS diagnosis: 3 months
    • Time from suspected to confirmed ALS diagnosis: 1 month

Research studies have also been conducted to analyze what factors delay or accelerate an ALS diagnosis:

    • Patients age 60 and older: delayed ALS diagnosis
    • The presence of fasciculations, slurred speech, and lower extremity weakness when symptoms are first noted: accelerated ALS diagnosis
    • Sporadic ALS and limb onset: delayed ALS diagnosis

If we analyze the above diagnostic delay predictors in each individual ALS case, we can start to break down what really is at the root of a delayed diagnosis. Was it the patient’s stubbornness and refusal to go to the doctor? Was it a primary care physician failing to identify the patterns of a highly complex disease or not wanting to give a fatal diagnosis? More than likely, it was a culmination of multiple variables. The author of this blog has identified four key categories of dysfunction that influence the ALS diagnostic process: public knowledge, the medical system, the pharmaceutical industry, and ALS disease complexity. There are specific failures within each category. The charts below list these points of failure.

Compensating for each of these system failures will take, and is taking, years and millions of dollars. Is there a simpler solution? Or do we approach each of these system inefficiencies individually? Yes, there is a simpler solution. Machine learning is proving to be the solution. Mitsubishi Tanabe (MT) Pharma, the company known for developing the ALS therapy, endaravone, is hard at work. They have created a program that interfaces with billing codes within our medical systems. The software is trained to identify potential ALS patients before they receive their ALS diagnosis. How is this possible? MT Pharma acquired historical claims data on Truven from 14,000 ALS patients during the 5 years leading up to their ALS diagnosis. They looked for patterns in the billing codes and created an algorithm to detect similar patterns. This early detection software was in the beta testing stages in December 2019 and will hopefully be utilized in the near future. The early stage testing results revealed the software had a 14% positive predictive value. In other words, roughly 1 out of every 9 people who were flagged by the system were correctly identified as having ALS. This early detection method not only has implications in ALS, but in the larger populations of patients at risk of developing neurodegenerative diseases such as Parkinson’s and Alzheimer’s.

This solution to the ALS diagnostic delay highlights two important points: it warns the public that they should never underestimate a pharmaceutical company’s ability to find customers, and it reveals that rare disease populations can benefit from pharmaceutical marketing budgets. Does this solution imply we should stop working on the systematic inefficiencies that allow patients with rare diseases to fall through the cracks? Absolutely not. Leslie Sands is living with ALS in San Luis Obispo. These are her recommendations for medical professionals everywhere:

    • A local specialist or primary care physician (PA’s and NP’s included) should urgently refer their patient to a university or a major hospital neurology center for evaluation when: they encounter a patient with unexplained slurred speech and have ruled out a stroke, traumatic brain injury, or other “obvious” conditions, and the patient’s labs are inconclusive with no obvious alerts.
    • The local doctor should not “suggest” that the patient seeing a neurologist associated with a university or major hospital may be a good idea; rather, the local doctor should emphasize the importance of seeing a qualified neurologist.
    • The local doctor or specialist should not be afraid to broach the possibility of a motor neuron disease (MND).

Leslie’s recommendations are echoed by ALS researchers who have collected data on patients who received a diagnosis far too delayed into their disease experience. One incredible ALS advocate, Sandy Morris, recommends that anyone who thinks they may have ALS symptoms, goes to a local emergency room and doesn’t leave until they receive a diagnosis. Hey, that’s one way to do it.

As with most complex problems, it is a combination of disciplines that need to collaboratively work towards a solution. While ALS patients encourage medical professionals to heighten their awareness of ALS, MT Pharma’s early detection algorithm will assist the doctors with the pattern recognition needed to correctly diagnose neurodegenerative diseases.

Related Articles:

Diagnostic Delays in ALS ‘Surprisingly Large’ and Need Not Be, Study Says

References

Martharan, Martin, Mathis, Stephane, Bonabaud, Sarah. (2020). Minimizing the Diagnostic Delay in Amyotrophic Lateral Sclerosis: The Role of Nonneurologist Practitioners. Neurology Research International. Volume 2020 Article ID 1473981, 8 pages.

Paganoni, S., Macklin, E. A., Lee, A., Murphy, A., Chang, J., Zipf, A., Cudkowicz, M., & Atassi, N. (2014). Diagnostic timelines and delays in diagnosing amyotrophic lateral sclerosis (ALS). Amyotrophic lateral sclerosis & frontotemporal degeneration, 15(5-6), 453–456.

ALS Podcasts

Stay Connected

The individuals and companies within the ALS Community are innovative and inspiring. Their collective actions illustrate how love and the fight for life motive real change. The following podcasts cover stories from people living with ALS, the science behind the disease, treatment options, caregiving experiences, and several other pertinent topics. These podcasts are a great way to stay informed while on the move. Enjoy! 

Many of these podcasts are available on Spotify, iTunes, YouTube and Soundcloud. The options for each podcast will become apparent once you visit the webpage by clicking on the above icons. 

The Political Front: National ALS Advocacy Conference

The National ALS Advocacy Conference

(May 26, 2020 – June 3, 2020)

The National ALS Advocacy Conference was virtual this year! The Martha Olson-Fernandez Foundation (MOFF) attended two days of the virtual event. Continue reading to get the inside scoop on the political interests of the ALS community.

What is The National ALS Advocacy Conference?

The National ALS Advocacy Conference is a week-long event in which patient advocacy groups lobby to raise disease awareness, present funding requests, and push policy initiatives that will support the ALS patient community. The event has a similar structure each year:

  • Daily conferences are held that discuss ALS research updates, ALS community needs, specific policy initiatives, and congressionally appointed fund requests for the year.
  • ALS patients and their families visit the offices of members of Congress to personally tell their stories and request support for the funding or policy initiatives that will benefit the ALS community.
Who were the main players in the “ALS community” during the 2020 ALS Advocacy Conference?
  • Muscular Dystrophy Association
  • I AM ALS
  • Team Gleason
  • ALS Association
  • Les Turner Foundation
  • American Academy of Neurology
  • National Health Council
  • National Organization for Rare Disorders
What were the main “asks” of the ALS community for FY 2021? (The requests that are placed in May 2020 pertain to the fiscal year (FY) 2021).

The ALS community is advocating for the following public policy priorities in FY 2021:

  • ALS Disability Insurance Access Act (S. 578/ H.R.1407): Request to waive 5-month waiting period for Social Security Disability Insurance (SSDI). This Act builds off the previous motion passed in 2000 that waived the 24-month Medicare waiting period. This is an urgent agenda item and currently has support from 61 senators and 238 representatives.
  • Expand Access to Home Infusion for Medicare Beneficiaries
  • Promising Pathway Act: Proposal to amendment to the Federal Food, Drug, and Cosmetic Act to establish a time-limited provisional approval pathway for certain drugs and regulated medical products.
  • Accelerating Access to Critical Therapies for ALS Act: Creates a pilot program to support expanded access programs. Will dedicate $75 million available in FY 2021 and FY 2022 toward this program.
  • Justice for ALS Veterans Act (S. 3091/H.R. 4748): This bill ensures that surviving spouses of veterans with ALS receive fair dependency and indemnity compensation.
  • Request for $40 million congressionally appointed dollars for the Department of Defense ALS Research Program.
  • Request for $10 million congressionally appointed dollars for the National ALS Registry.
  • Request for $44.7 billion congressionally appointed dollars for the National Institutes of Health (NIH).
What politicians are supporting the ALS cause?

The below list and commentaries provide a snapshot into the wide-ranging political support the ALS community has garnered.

  • Senator Mike Braun (Indiana) is championing the ALS Disability Insurance Access Act. In the virtual meeting on May 26th he stated: “I don’t think there is a good reason why this should not pass.”
  • Representative Peter Welch (Vermont) is supporting the ALS Disability Insurance Access Act. His commentary during the virtual meeting was, “Congress is a tough institution to move,” but the ALS community’s “long term advocacy is working.” He also stated that we currently have 238 supporters in the House, if we obtain 290, it “can be put on a consent calendar.” In lay terms, this would deem the Act as a topic that is not controversial and does not need to be discussed and can be accepted without a vote.
  • Representative Jason Crow (Colorado) affirmed that the ALS community “has a friend and an ally in Congress.” He is a prior Army Ranger whose wife’s cousin passed away from ALS.
  • Congressman Jeff Fortenberry (New England) introduced the Accelerating Access to Critical Therapies for ALS Act.
  • Congressman Mike Quigley (Illinois) co-sponsored the Accelerating Access to Critical Therapies for ALS Act.
How do the 2020 ALS community funding requests compare to historical asks?
  • To give you an idea of how much the ALS community’s political involvement has grown, in 1998 the government allotted $15 million dollars total to ALS research initiatives.
  • In FY 2020, the ALS community requested $20 million congressionally appointed dollars for the Department of Defense ALS Research Program. This was request was granted.
  • In FY 2020, the ALS community requested $10 million congressionally appointed dollars for the National ALS Registry/Biorepository development. This request was granted.
  • In FY 2020, the ALS community requested $105 congressionally appointed dollars for the NIH. The request was granted.
Conclusion

The 2020 National ALS Advocacy Conference was marked by monumental support and engagement from members of Congress. Despite the virtual platform, the ALS patient voices and actions could not be ignored. One key takeaway from the conference was the importance of forming coalitions with other patient groups. It is by unifying the patient voices, and combining them with the urges of doctors in their respective fields, that disease-community demands will be answered. This year, the American Heart Association and the American Lung Association formed key alliances with the ALS advocacy community on specific interests.

Thank you to all the parties involved in this monumental conference. Your efforts are saving lives. More information can be found on the ALSA, MDA and I AM ALS websites.

Sponsors

The main sponsors of the National ALS Advocacy Conference were the following pharmaceutical companies: Alexion, Amylyx, Biogen, biohaven pharmaceuticals, Genentech, Mitsubishi Tanabe Pharma America, and Soleo Health.

Healey ALS Platform Trial

What is the Healey Platform Trial?

  • An ALS clinical trial that tests 5 different therapies at 54 different trial sites across the United States. You can learn more about the structure and originality of  the trial here.

How many patients will be enrolled in the Healey Trial?

  • 160 patients will be enrolled per each of the five treatment arms.

What is the duration of the trial?

  • 24 weeks

When does the Healey Trial start?

  • There is not an exact date set yet. That being said, best estimates have the trial starting in May or June. People living with ALS are encouraged to contact trial sites near their residence as soon as possible. The enrollment will be competitive, meaning on a first come, first serve basis.

What phase clinical trial is this considered?

  • The stages of the therapies in the Healey Trial fall under the phase 2/3 trial or what the FDA considers a pivotal trial.

Please explain the expanded access element of the  trial.

  • Since the duration of the trial is not very long compared to other pivotal trials, the FDA encourages patients who would like to continue therapy usage after the trial is completed, to do so. This will allow researchers to monitor the long term safety of the therapy.
Curious about patient eligibility criteria? Click here and scroll to the bottom of the webpage.

Click on any of the company logos below to learn about the therapy they are contributing to the platform trial.

For more Healey Platform Trial info please click here for the MGH website

2020 Virtual SLO ALS Walk

MOFF ALS Walk Team

Thank you to all those who helped us raise $1,825.00! Your generosity during this time of COVID-19 is what keeps the ALS patient care community going. 

In case you missed it, the MOFF team this year  walked for people living with ALS, the families of those who passed away from ALS, and we walked in memory of Katcho Achadjian.

Because ALS is fatal, our community is no stranger to loss and each year we invite more angels into our midst. This year, the MOFF team was dedicated to one of our SLO community leaders, Katcho Achadjian. He did not die from ALS, but his support of the ALS community was heartfelt and strong. We know he and Martha are getting into trouble wherever they may be 🙂 TO KATCHO! TO MARTHA! TO EACH OF US LIVING EACH DAY TO THE FULLEST. Stay strong.

Please view the MOFF Virtual ALS Walk Team video below. Check it out:

COVID-19 (SARS-CoV-2) Resources

Massachusetts General Hospital (MGH) has recently released incredibly useful webinars and Q&A sessions regarding living with ALS during this time of SARS-CoV-2. The link to their resource page is here. 

Follow this link to view SARS-CoV-2 resources synthesized by the ALS/MND Alliance. 

Click here to learn the latest ALS community updates on SARS-CoV-2 from I AM ALS.

We pray everyone stays safe and healthy during this time.

-The Board of the Martha Olson-Fernandez Foundation

ALS Focus Survey

Survey 1 is closed. Click here for results

MOFF encouraged ALS families to participate in Survey 1 of the ALS Focus Survey Program. Survey 1 was developed by the ALS Association and targets ALS patients and their caregivers. The purpose was to collect information to help ALS advocates fight for access to care and financial security for those affected by ALS. 

Background: The ALS Focus Survey Program is a patient and caregiver led program that asks people with ALS and current and past caregivers about their needs and burdens. The goal is to learn as much as possible about individual experiences throughout the disease journey so that the whole ALS community can benefit.

All data collected is de-identified and shared free of charge to the entire ALS community. 

Click here to register for future ALS Focus Surveys

2020 Hike x Brunch: February 22

Thank you to everyone who joined us for the 6th Annual MOFF Hike x Brunch! Together we raised $6,716.80 to put towards ALS patient care and research.

The hike up Felsman Loop Trail was a wonderful reminder of Martha’s ability to motivate and educate each of us on the importance of exercise and healthy living. The sign at the bottom of the trail reminded us who we were hiking for: all those who cannot. The sign has the names of those our community has lost to ALS and also those that are currently living with the disease.

When we reached Martha’s memorial bench, Andrea and Natalie read a passage from Ryan Farnsworth’s book: Seeds of Light Sown. The poem is called: Old Wisdom Gained Young: 

“I have never heard the elderly lament, 

In wishing that they would have lived less,

Having packed too much life into their years.

I imagine instead that as their tired suns sink,

Back towards the horizon of their lives, 

Each moment becomes more precious. 

If asked for advice such an old one might say: 

Don’t put your dreams on a shelf labeled ‘someday,’

A day in the future when there will be more time, 

For time waits for no one. 

Live the life you want and do not wait or hesitate, 

While you are healthy and have the physical function, 

To spend your time in all of the ways you prefer. 

And I think to myself: 

We should not need to grow old, 

To gain such wisdom.”

The brunch portion of the event was educational and inspired hope. Jennifer McErlain from the ALS Therapy Development Institute (ALS TDI) showed a video that walked us through a virtual tour of the ALSTDI lab. She discussed how MOFF donors have contributed over $95,000.00 to different ALS research projects at ALS TDI over the past 5 years. She also mentioned Project Euphonia which is ALSTDI’s collaboration with Google that was recently featured on the Today Show. At the end of Jen’s talk, MOFF presented Jen with a $10,000.00 check to put towards their upcoming research on profilin1 ALS mouse models.

Thank you ALSTDI for all the incredible research you conduct and thank you to our supportive donors for allowing MOFF to fund research to find a cure for ALS.

If you have any photos that you would like to share from the event, please email them to giving@moffoundation.com. Thank you!

ClinWiki x ALSA GW x MOFF

Let’s face it, the clinical trial world is overwhelming, especially if you have recently been diagnosed with a disease. ClinWiki.org is a nonprofit foundation whose mission is to make clinical trials more transparent and approachable. ClinWiki works with various stakeholders across many therapeutic areas in order to invite collaboration into a space that was previously siloed. Their efforts allow clinical research teams, sponsor companies, and patients recognize that we are all working towards the same end: effective treatments and cures for the diseases that plague our population.

The ClinWiki ALS project began in December 2019 and is projected to continue through October 2020. Natalie Fernandez, CFO and Program Director at MOFF, is the ALS Team Project Leader. She will be working in collaboration with Amy Westermann, the Executive Director at ClinWiki, and Sheri Strahl, COO of ALSA GW to complete the project. The project goal is to orient ClinWiki to the ALS community and emphasize the priorities of ALS patients as they search for clinical trials.

ALS is a unique disease when it comes to clinical trials for many reasons. For starters, it is debilitating and fatal. These two facts alone make concepts such as traveling to trial sites, placebo controls, and the extremely long duration of clinical trials incredibly burdensome to people living with the disease. The role of ALSA GW and MOFF is to help format the ALS clinical trial search in such away that highlights the important aspects of the trial so that people living with ALS do not spend months sifting through the data on clinicaltrials.gov. Enrollment criteria such as ALS onset, Forced Vital Capacity, and disease duration are just some of the tags being created in order to make the trials easier to sift through. Some key questions that will be highlighted are listed below.

  • Does this trial offer Expanded Access?
  • Does this trial offer Open Label Extension (OLE)?
  • Is travel required?
  • Does this trial offer remote monitoring?

Natalie is very excited to be working on this project. Stay tuned for the official launch in Fall 2020!