The satellite clinic was originally opened in June 2024 and will next be open in September 2024. All those living with ALS seeking access to this clinic should reach out to ALS Network staff directly at 1-866-750-2572 or careservices@alsnetwork.org.

The clinic is hosted at the Cottage Health Location in SB.

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MOFF will be distributing this ThinkALS tool to primary care practices in 2022 in an effort to identify people living with ALS earlier and refer them to an ALS specialist (neurologist) as soon as possible.

Call to Action: Print and share, or email this tool to your primary care physician’s office. Start a conversation about ALS with your health care provider. The more we talk about it, the more awareness we will raise, and the earlier ALS patients can get the medical team they need.

Click the image above to access the PDF version

For further information on the ThinkALS tool, visit this webpage.  

A Solution to the ALS Diagnostic Delay

1 in 300

The post ThinkALS Tool first appeared on Martha Olson Fernandez Foundation – Bloom Where You Are Planted..

Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative disease that affects roughly 9 out of a 100,000 people in the United States at any given time¹. Put in more relatable terms, the average person has a 1 out of 300 chance to develop ALS in their lifetime ².

There are currently only 3 FDA approved therapies indicated in the treatment of amyotrophic lateral sclerosis (ALS). These drugs, RADICAVA^®, NEUDEXTA®, and Rilutek fall short of providing significant, disease modifying effects for those living with the disease. Those individuals that seek a more significant therapeutic benefit and a better chance at survival enroll in clinical trials. There are currently 86 global clinical trials that are currently recruiting patients³. The caveat is that nearly 60% of ALS patients fail to qualify for clinical trial enrollment due to the rigid inclusion/exclusion criteria written into each trial protocol^.4  Expanded access, also called “compassionate use,” provides a pathway for patients to gain access to investigational drugs, biologics, and medical devices used to diagnose, monitor, or treat patients with serious diseases or conditions for which there are no comparable or satisfactory therapy options available outside of clinical trials.⁵

2020 statistics provided by the Golden West Chapter of the ALS Association revealed that there were just over 90 patients living with ALS on the Central Coast. These patients, right in our backyard, are dying. Their only chance is experimental therapies. The MGH Expanded Access Protocol (EAP) provides just that. Since the second quarter of 2018, The MGH EAP has supervised 133 ALS patients receiving access to therapies not yet approved by the FDA. These patients have seen therapeutic benefits and their stories of function recovery are inspiring.

Some of the drugs the EAP at MGH allows access to are currently being tested in the Healey Platform Trial: Verdiperstat, CNMAu8, and Pridopidine. All of these drugs are administered under the supervision of an interdisciplinary team of doctors and longitudinal data is collected for research purposes to assist with therapy validation and categorization.

This fundraising effort is a partnership between the Ken Brenner Family and the Martha Olson-Fernandez Foundation. To date, they have raised $6,900.00 and they need your help to reach their $30,000 goal. Since it costs $10,000 to provide 1 patient access to therapy for 1 year, this total will fund 3 patients.

NEVER GIVE UP

Donate to the MGH EAP Program today.

1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567553/
2. https://www.neurologylive.com/view/an-overview-of-causes-and-risk-factors-for-als
3. https://clinicaltrials.gov/ct2/results?cond=ALS&Search=Apply&recrs=a&age_v=&gndr=&type=Intr&rslt=
4. https://alsnewstoday.com/news-posts/2019/01/21/new-eligibility-criteria-needed-to-improve-als-trial-outcome/
5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443564/

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The statistics behind the fatality of ALS paint an image laden with loss:

Incidence:

Each year in the United States 5,000 people are diagnosed with ALS. This seems like a relatively small number until you start to look at the numbers in terms of the lifelong chances of an individual contracting the disease: 1 in 300.

Survival:

50% of those 5,000 individuals will live 3-5 years.

25% live 5 years or more and yet another 10% will live more than 10 years.

In the end, ALS is 100% fatal.

Thankfully, over the past 8 years, an increase in disease knowledge has led to slightly longer survival and higher quality of life. This is in part due to the now 4 FDA approved drugs for ALS: Riluzole, Radicava, Tiglutik, and Neudexta. These drugs are a step in the right direction, but they are not enough.

Emotional Rollercoaster: 

Every time we lose a member of this tight-knit community, everyone feels it. For people working to solve the ALS puzzle, it feels like the weight of a failure, the breathlessness of time running out, and the frustration of not being able to do enough to save that individual. Then, there is the subtle fear over how many people will die before a cure is found and the esoteric contemplation of why ALS exists and why it is so ruthless.

MOFF Response:

This roller coaster causes MOFF to operate like we are running out of time, because we are. We fund the most cutting edge research, and we grant money to patients to help improve their quality of life in whatever ways current care standards permit. We seek alliances within the ALS nonprofit community that allow us to connect ALS families to the services they need, and we work with ALS collaborations that aim to share ALS information and knowledge. When we lose a person living with ALS, we don’t stop, we keep going.

Clinical research is where we direct people living with ALS who are not satisfied with the current, minimally effective standards of care. Clinical research is what we emphasize will bring about the next effective treatment to ALS, because it will. There are currently 11 Phase 3 clinical trials that are recruiting in the U.S. We encourage all ALS patients that are interested in finding a cure, to participate in one of these trials. If you would like further information on navigating the clinical trial landscape or would like to speak with someone who has gone through the clinical trial experience, please email Natalie Fernandez at moffoundation@gmail.com. 

The post MOFF Response to Loss first appeared on Martha Olson Fernandez Foundation – Bloom Where You Are Planted..

Let us begin. The setting is in present day, Umatac, Guam. To most, Guam is a beautiful island in the South Pacific that is utilized by the U.S. military for its strategic positioning. If you talk to any scientist that studies neurodegenerative diseases, they would not site Guam’s natural beauty, but rather, they would allude to Guam’s dark medical history. One that has puzzled the scientific community for years. According to a 2017 article written in Penn Medicine Magazine, 1904 was the date the first official reports documented a peculiar disease that was plaguing the Umatac community. It is said that folklore reaching back two centuries documented cases of the same symptoms: “tremors, paralysis of the arms and legs, missed memories, and bouts of dementia” (Penn Medicine Mag 2017).

The Chamorro people are the locals of Guam. They called the disease lytico-boding, which alluded to the paralysis and listlessness that characterized the disease. The more formal scientific name is amyotrophic lateral sclerosis-parkinsonism-dementia or ALS/PDC. Lytico-boding was a very fast progressing disease that affected the islanders from age 15 to age 50. In 1954, it was the leading cause of death among the Chamorro people. A 1954 article in the Neurology Journal reported the incidence rate of lytico-boding to be “50-100 times that of the global average for ALS during this time.” That’s insane!

It is truly spooky. Luckily, the rate of disease has decreased significantly in the past decade, but that doesn’t erase what caused the disease in the first place.

Scientists have studied the disease for nearly a century and still have no definitely answers. That is certainly not due to a lack of hypotheses or funding. Parties involved in trying to solve the Chamorro people’s medical mystery have included the National Institute of Health (NIH), the Department of Defense (DOD), multiple academic institutions, and scientists from various disciplines. Notable researchers who have studied lytico-boding include:

John Q. Trojanowski, Dr. Gerard D. Schellenberg, Dr. Leonard T. Kurland, Majorie Whiting (anthropologist), Dr. Peter Spencer, Dr. Paul Cox, and Dr. Oliver Saacks.

Scientific hypotheses have all pointed to environmental factors such as the cycad seeds that the villagers consumed, military waste, poor eating habits, or interfamilial marriages. The Chamorro people have their own theories, such as the disease is the aftermath of a curse from an angry Catholic priest. A popular, more recent theory, developed by Dr. Paul Cox was featured in the February 2019 edition of Fortune Magazine. His research points to the high concentration of ß-N-methylamino-L-alanine (BMAA) that remained in the fat tissue of the bats that the Chamorro people ate as a delicacy. Dr. Cox affirms that a small molecule amino acid known as L-serine can combat the affects of BMAA. He is currently  involved with two Phase II trials of L-serine, one for ALS, and one for Alzheimer’s disease (AD). He believes L-serine will prevent neurofibulary tangle formation in AD and increase ALSFRS-R scores in ALS patients. The video below explains his research in Guam and in the U.S.A. further.

While lytico-boding has been useful for developing questions and theories of other neurodegenerative diseases, the mystery remains unsolved and downright SPOOKY. For more information on the medical mysteries of Guam, click here to read Steve Graff’s complete article.

HAPPY HALLOWEEN

If you are interested in more cases of neurodegenerative disease clusters. Check out the link below.

ALS Clusters in Japan 

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The post Latest ALS Research: I AM ALS first appeared on Martha Olson Fernandez Foundation – Bloom Where You Are Planted..

What is the ALS RPR? This initiative was suggested by a couple members of I AM ALS and NEALS and is intended to bridge the gap between scientific research papers and lay people working to understand the disease. The co-chairs plan to host an hour long session once a month in which we review a paper with the researchers that authored the study. Supplementary materials will be provided to assist with scientific and research concept understanding. Our goal is to provide a platform for an engaging conversation that pays respect to and fosters understanding of research within the ALS disease state.

Dr. Bedlack from the Duke ALS Clinic has graciously agreed to be our scientific advisor to help get the project off the ground. Thank you Dr. Bedlack 🙂

The post ALS Research Paper Review (ALS RPR) first appeared on Martha Olson Fernandez Foundation – Bloom Where You Are Planted..

Thank you to the individuals from the ALS patient and scientific communities that are involved in elevating the bar for ALS clinical trials. Thank you specifically to MGH, NEALS, and Berry Consultants. This is truly exemplary.

The post Healey Platform Trial Monthly Updates first appeared on Martha Olson Fernandez Foundation – Bloom Where You Are Planted..

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.

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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.

The post How I AM ALS is Influencing Clinical Trials Design first appeared on Martha Olson Fernandez Foundation – Bloom Where You Are Planted..

(This post was written in June 2020 and is still relevant today.)

Why is this 1 in 300 statistic is important? Keep reading.

    1. Public perception of ALS

The standard ALS prevalency statistic the internet provides is that every 5 people out of 100,000 people have ALS at any given time in the U.S. This is makes ALS seem underwhelmingly rare and plays a role in why individuals displaying ALS symptoms, don’t realize they have ALS and instead, rationalize their symptoms and delay doctor visits until their disease has taken a significant toll.

Have you every wondered why so many people have had family members or friends affected by ALS and you didn’t know about it until you had ALS hit close to home?

Several factors affect this phenomenon, one being the short lifespan of an ALS patient (2-5 years on average).  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, they just aren’t here to raise awareness of your disease.

Another variable is ALS is a very private disease. It involves the loss of autonomy which discourages interactions with the general public. This tendency to remain private, paired with how fast the disease progresses causes individuals to disappear.

The individual’s legacy will live on and the love for that person will persist, but the disease burden on society is minimal and thus awareness is low.

    2. Diagnostic Delay

ALS is notoriously missed in a primary care physician (PCP) setting. On average, there is 1 year time period from the time of symptom onset to an ALS diagnosis. Why is this? Researches have puzzled over this diagnostic delay for years. One theory is that doctors are pattern recognizers. Depending on their practice, whether it is neurology, dermatology, optometry, etc., they are trained to look for patterns and ask questions. They then 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. ALS also begins insidiously and with symptoms that do not scream “ALS” such as tripping, or tongue swelling.

A solution to this failure to recognize ALS early on is by increasing awareness of the prevalence of ALS. By doing so, ALS would not be a last resort diagnosis, but rather a potential candidate from the start. The medical community can do this by developing sophisticated diagnostic biomarkers, utilizing AI models to data mine initial symptoms from patient records, and/or utilizing the 1 in 300 statistic. Given a sophisticated biomarker is not yet widely utilized, and the AI has not yet been introduced by Big Pharma, MOFF is doing our part by advertising the 1 in 300 likelihood of developing ALS. This statistic, in theory, would 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 the PCP to think that their patient’s hand weakness is not simply a weakness due to a localized sports injury, but maybe a more global issue with neurological underpinnings.

Resources

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,

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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.

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