Author Archives: MOFF

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.

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 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 26^th 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.

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.

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

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:

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

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. 

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!

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!

Giving Tuesday was on December 3, 2019. The MOFF Giving Tuesday campaign emphasized the urgency that the ALS disease state needs funding. Below are a few examples of how your donation can impact the ALS community.

• ALS is an expensive disease and can cost up to $200,000.00 a year for a single ALS household.
• There are currently over 170 individuals living with ALS on the Central Coast of CA.
• It can cost up to $2 billion to develop a drug. This number gets inflated when it comes to ALS treatments because it is going to take gene therapy or a combination of several drugs to address the complexity of the disease.

The Martha Olson-Fernandez Foundation has funded ALS drug development efforts since 2014. Your support during Giving Tuesday is what allows us to provide financial support to families living in our area.

Thank You!

The weather was gorgeous out at Cypress Ridge Golf Course on October 5, 2019. Teams traveled from California and Arizona to support ALS patient care and research. Together we raised $114,680.00!! The VIP guests at the tournament were: Fred Fisher (President and CEO of The ALSA Golden West Chapter), Cherryl Goldstein (VP of Development for the ALSA Golden West Chapter), and Dr. Justin Ichida (USC Professor of Stem Cell Biology and Regenerative Medicine).

Results:

1st Place: Manny Silva, Brian Ball, Jon Pollock, Paul D’Ambra; Score: 55

2nd Place: Jim Orradre, Stephen Orradre, Duke Green, Bob Riddle; Score: 56

3rd Place: Nigel Whitehead, Josh Compton, Bill Compton, Will Sinclair; Score: 57

Hackers: Jerry Casey, Jennifer Taylor, Kyle Hooks, Kevin Voorhees; Score: 80

Closest to the pin (women): Karen Crawfis – 18ft

Closest to the pin (men): John Ronca – 9ft

Longest drive (women): Terri Garcia

Longest drive (men): Cliff Contreras

Awards Ceremony Speakers

We were honored to have Fred Fisher (left) discuss the impact of the MOFF Fund on patient care services on the Central Coast of CA.

Dr. Justin Ichida (right) discussed the ALS stem cell work his lab at the USC Keck School of Medicine has been conducting. The Ichida lab was the recipient of the ALS Research Grant Sponsorship ($10,000.00). The ALS Research Grant Donor was the Larry Fernandez Family. Read more about this transaction here. 

Registration Team

Photographers

Heck Hole Crew

Thank You Volunteers! Your positive energy and helpfulness made this event possible.

The Martha Olson-Fernandez Foundation is proud to be in collaboration with the ALS Cure Project. The ALS Cure Project is run by Mike Piscotty who lost his wife, Gretchen Piscotty, to ALS in 2018. The Project is comprised of an executive council, a research counsel, and a business council. Natalie Fernandez, CFO at MOFF, sits on the business council. Read more about the ALS Cure Project’s vision and their $1 Billion grand prize here.

Mike Piscotty’s son, Stephen Piscotty plays for the Oakland A’s. The Piscotty family was featured in an ESPN Sports Center video when Gretchen passed away.