The Sumaira Foundation Global Diagnostics Initiative for Rare Neuroimmune & Related Conditions

The Sumaira Foundation (TSF)

Over 1 in 3 people globally are affected by neurological conditions, the leading cause of illness and disability worldwide, according to the World Health Organization.  Many of these conditions involve the immune system, yet remain challenging to properly diagnose.  Without correct diagnosis, patients can go untreated or mis-treated, often for years, leading to unnecessary disability and deaths, especially in underserved communities and lower-income countries. 

Recent strides in science and medicine have led to the identification of biomarkers, autoantibodies, disease mechanisms, and increasingly therapies for a number of rare neuroimmune conditions, including: neuromyelitis optica spectrum disorder (NMOSD); myelin oligodendrocyte glycoprotein-associated disorder (MOGAD); autoimmune encephalitis (AE); myasthenia gravis (MG); chronic inflammatory demyelinating polyneuropathy (CIDP); paraneoplastic neurological syndrome (PNS); autoimmune cerebellar ataxia (ACA); & related disorders.   However, several of these relatively rare conditions are prone to mis-diagnosis as multiple sclerosis (MS) or other conditions, leading to improper treatment and poor outcomes.  Ruling rare disorders out of consideration can also allow for correct diagnosis of more common conditions with complex or confusing presentations, including MS, which has close to 3 million sufferers globally.

This is especially true in communities and countries where neurological expertise and resources are lacking (e.g., sub-Saharan Africa).  Understanding of rare neuroimmune disorders is limited even in high-income regions such as Europe and North America.  Necessary diagnostic tools including appropriate immunological assays are often unavailable, unknown, unreimbursed, and/or unaffordable.  The skills required to properly interpret such tests are also often unavailable locally. 

At the same time, many of the current immunological assays being utilized are old and sometimes outdated technologies with insufficient selectivity/sensitivity/accuracy to effectively diagnose rare neuroimmune cases.  This includes, for example, ELISA tests for NMOSD and ELISA or fixed-cell-based assays for MOGAD.  In addition, many new autoantibody markers are being discovered annually for a variety of conditions.  There is simply no way for even the top neuroimmunology-trained clinicians to keep up with testing protocols amidst all these new biomarkers. 

Collectively, current health system stakeholders have limited incentives, means and expertise to resolve this diagnostic bottleneck in the field of neuroimmunology.  Lack of focus on the issue has left hundreds of thousands of patients undiagnosed, mis-diagnosed and untreated/mis-treated for years, leading to enormous but avoidable morbidity and mortality. 

Fortunately, multiple tests, technologies and off-patent therapies exist to help such patients, address these diagnostic challenges and dramatically shorten many patients’ diagnostic odysseys to  provide them not only a correct diagnosis but a path forward to appropriate, timely, effective and affordable treatment options.  What is needed is a new and innovative approach to the problem: a “minimum viable laboratory” (MVL) to perform leading-edge rare neuroimmune assays and serve as a national or even multi-country regional diagnostic reference center for rare neuroimmune and related conditions.

Our solution is simple: a MVL utilizing established and validated diagnostic technologies that allow customization and automation of the testing process coupled with cloud-based expert interpretation of diagnostic results to overcome any local skill gaps in neuroimmunology expertise. 

TSF has partnered with the leading global provider of automated neuroimmunology diagnostic systems to develop our prototype.  We are now in advanced discussions to establish a pilot MVL diagnostic center of excellence (CoE) with a number of partners in Mexico, including Dr. José Flores-Rivera, a leading and globally-recognized rare neuroimmunology researcher and clinician based in Mexico City.  We are in exploratory discussions with other leading neuroimmunology key opinion leaders and academic medical centers in Brazil, the US, sub-Saharan Africa and Europe to set up similar MVLs as appropriate and feasible. 

Our MVL pilot(s) will allow for differential diagnosis of a wide range of rare neuroimmune disorders, via fixed tissue- and cell-based assays on a proven biochip platform already in wide use in high-income countries and leading academic medical centers.   This platform has the ability to customize screening and confirmation test panels for multiple different rare neuroimmune conditions, including NMOSD, MOGAD, AE, MG, CIDP, PNS, ACA and other related conditions that are either autoantibody-mediated or have an autoantibody biomarker.

Our pilot(s) would be co-located in existing hospitals/laboratories with appropriate technical and oversight capabilities to operationalize the MVL with additional required training, equipment, reagent and interpretation supports, along with follow-up quality assurance/quality control on test reproducibility and results.

Our approach leverages several key innovations.  First, we are using a novel, automatable, flexible and customizable biochip assay platform that allows for easy and efficient development of multiplex assays for specific diseases.  This platform is in use worldwide and has the ability to store biochip assay image results in the cloud and transmit them to experts anywhere in the world for confirmatory diagnoses, allowing the concept of “telehealth” to be extended to rare immune patients anywhere in the world.  Second, as a non-profit entity with formal entities in multiple countries and regions (and expansion plans for more), TSF has the networks and ability to convene relevant stakeholders to arrange the set-up, operation, and—crucially—funding to allow for ongoing operation of a network of such MVL diagnostic centers of excellence.

Most healthcare systems around the world do not reimburse for such specialized testing, yet there are over 20 global biopharma companies offering proven, on-label therapies for many of the conditions we will be able to diagnose.  Due to compliance and other restrictions, these companies cannot pay directly for testing, yet are ready and willing to support solutions that would enable appropriately screened patients to gain access to relevant diagnostics.  TSF would serve as the organizing intermediary to set up diagnostic centers and raise the funds needed to cover set-up costs as well as operating costs/tests performed, from a variety of sources, including therapy makers.  In many cases, these tests may cost less than $100 per assay, with only one or two assays needed to confirm a diagnosis.

Our solution would, once scaled up, serve and benefit the millions of patients around the world living with challenging neuroimmune conditions, including more common disorders such as MS that can often present in complex and difficult-to-diagnose ways.  It’s well-known that there is a significant and growing shortage of neurologists globally, even in the US, and as a result, many communities live in what experts refer to as “neurology deserts.”  These so-called “deserts” are even larger for rare conditions, where expertise is even sparser and unevenly distributed in wealthier cities, regions and countries.  The “desert” concept also extends to diagnostics, where (even in the US) patients with conditions such as NMOSD or MOGAD will either be ordered the wrong type of test (e.g., ELISA) or simply not even have a test ordered at all. 

As a patient advocacy organization active in over 20 countries around the world, TSF sees first-hand the pernicious impacts of these diagnostic and therapeutic deserts.  Even now, patients come to our attention monthly who have been living undiagnosed or mis-diagnosed for years, sometimes for a decade or more.  Many of them receive treatments for their incorrect diagnosis that only makes their true undiagnosed condition even worse.  In the mean time, they suffer repeated relapses and attacks that leave them vision-impaired, completely blind, in a wheelchair, incontinent and worse.  

The good news is that many of these diseases are manageable once diagnosed.  For example, NMOSD now has four FDA-approved therapies that are highly effective.  Many more drugs are in late-stage clinical development for a wide range of neuroimmune conditions. In addition, many other therapies that are off-label and relatively affordable are also available and effective in managing neuroimmune conditions.  Some of these therapies cost less than US$300 per year.  

However, without a correct diagnosis, the diagnostic odyssey for many patients turns into an unending maze, a dead end, or worse.  Repeated relapses and symptom progression can leave them blinded, wheelchair-bound, in chronic pain and fatigue, and worse.  Those patients suffering health inequities, such as minorities, women and children, face additional challenges. 

TSF’s goal with this initiative is therefore not only to help patients receive the correct diagnosis, but get them connected with centers and experts who can put them on a path to receiving the right treatments, managing their conditions, connecting with a broader patient and caregiver community, and returning to their lives as best they can.

It’s also important to note that some of these conditions have a much higher prevalence in certain disadvantaged subgroups.  For example, NMOSD affects mostly women (90% of the patient population), with much higher incidence rates among minorities (e.g., 3-fold higher rates in African Americans).  MOGAD is a condition that can hit children particularly hard and can lead to permanent vision loss.  TSF aims to help all patients living with rare neuroimmune conditions, but we strive to make special efforts to support those facing real health disparities due to their race, ethnicity, education, income level, disability or location.

TSF has partnered with a leading neuroimmune diagnostics platform manufacturer to configure the equipment, testing algorithms, consumables, software and training necessary to support our MVL pilot.  In other words, we have an existing prototype that leverages already-commercialized testing platforms in use around the world, including at leading academic medical centers in the USA and Europe to diagnose these conditions.  We also have a broad international network of leading diagnostics-focused researchers to help us select appropriate test centers for deployment, provide clinical expertise, and general medical oversight of our initiative.  We are in advanced discussions with Dr. Jose Flores Rivera for a pilot site in Mexico, and are in exploratory discussions for other possible pilot sites in the USA, Brazil, sub-Saharan Africa and India.  We will leverage existing training programs to appropriately train the on-site laboratory technicians and medical directors.  TSF will also leverage our established diagnostic fellowships to equip local clinicians with leading-edge, hands-on training with world-class diagnosticians and neuroimmunologists at Harvard Medical School/Mass General Brigham, the University of Oxford/NHS, and other academic medical centers.  We continue to solicit feedback from key stakeholders on our prototype solution.

As we mentioned briefly above, our approach leverages several key innovations.  First, we are using a novel but proven, automatable, flexible and customizable biochip assay platform that allows the easy and efficient development of multiplex assays for specific diseases.  These assays can be tailored to local medical needs (e.g., the addition of testing to rule out infectious disease agents in tropical regions and LMICs).  This technology platform is in use worldwide and has the ability to store biochip assay image results in the cloud and transmit them to experts anywhere in the world for confirmatory diagnoses, allowing the concept of “telehealth” to be extended to rare immune patients anywhere in the world.  

Second, as a non-profit organization with existing legal entities in multiple countries and regions (and expansion plans for more), TSF has the networks and ability to convene relevant stakeholders to arrange the set-up, operation, and—crucially—funding to allow for ongoing operation of a network of such MVL diagnostic centers of excellence.  The tremendous fragmentation of players across health systems, providers, payors, laboratories and therapy makers around the world makes any new and effective health intervention difficult to deploy.  This is especially true for rare diseases requiring complex immunological assays for correct diagnosis.  Only a non-profit entity working across borders (like TSF) can convene the critical mass of stakeholders necessary to fund, implement and operate such a novel approach to diagnostics.  TSF believes this represents a real innovation in health service/delivery models and funding mechanisms. 

Third, TSF has been sponsoring diagnostic fellowships to train up clinicians interested in rare neuroimmunological conditions at leading AMCs such as Harvard Medical School/MassGeneralBrigham and the University of Oxford/NHS.  So far, we have trained clinicians and returned them to their home countries in the Middle East and South Asia.  We also have fellows from Brazil and sub-Saharan Africa in (or about to begin) training. 

Fourth, TSF has been funding (and partnering in) research around novel biomarkers, diagnostic innovations and seronegative patient populations for several years.  We have strong relationships and existing collaborations with many of the leading diagnosticians researching and working in neuroimmunology around the world. 

Fifth, TSF knows that once patients receive a correct diagnosis, this often greatly facilitates their connection to a broader community of expertise, including clinicians, nurses, therapists, and perhaps most importantly, other patients and caregivers living with their disease.  Having a real patient community is vital to longer-term outcomes, adherence to therapy, and mental well-being. 

TSF believes our approach, once proven via pilots, can scale more broadly to diagnose other rare diseases, including autoimmune and genetic conditions.  The unmet medical need for such services is great, especially in lower-income countries.  Over the next decade, the world simply is not equipped to train up enough doctors to work its way out of these diagnostic and treatment bottlenecks.  The only way forward in the near term is by combining novel testing automation technologies, telehealth and funding/delivery models in innovative new ways.

As with any prototype that requires proof of concept via a pilot, TSF needs additional seed funding to cover the set-up costs for 1-2 pilot sites.  This includes a modest investment in capital equipment (around $70k for an immunoblot reader, fluorescence microscope, imaging/software and sample processing devices).  We also will need to cover modest initial training costs for a laboratory technician and a medical director, as well as consumable costs for test kits, reagents and other supplies.  Our hope is that, paired with other funding sources we can access, the Amgen Prize will ideally allow us to set up 3 pilots in 3 different geographies to assist underserved populations in each region:  Latin America, Africa, and the US. 

 TSF is confident that, with additional funding, we can successfully execute our pilot initiative with our existing network of advisors, partners and clinicians/AMCs.  As a relatively small non-profit patient advocacy organization focused on rare disease, however, TSF would also benefit from the broader startup, academic, and medical expert networks MIT/Solve/Amgen could help us to access as we navigate any additional technical, legal, and market access barriers which may likely become apparent during our pilot phase.  We noted that some prior Amgen Prize and other Solve prize recipients are active in diagnostics, rare disease and global health, and TSF would likely be greatly helped from any further guidance and advice they could provide as we initiate our project. 

As a Boston-based organization operating almost next door to MIT, TSF would also benefit from our proximity to the vibrant MIT community, where many formal and informal opportunities exist to connect in person with relevant experts and possible partners via events, conferences, meet-ups and the like.

As TSF’s Executive Director, I am well-positioned to deliver this solution alongside my dedicated project team. Having founded TSF in 2014 two months after my seronegative NMOSD diagnosis, I leveraged my background in public relations and healthcare administration to establish a diverse, inclusive and patient-centered organization from the ground up. In 2019 I pursued studies in Nonprofit Management & Leadership in order to accelerate TSF’s growth while working full-time as Director of Strategic Marketing & Business Development at Mass General Brigham. These experiences have not only enabled me to drive TSF’s expansion but have also provided me with a profound understanding of the stakeholder ecosystem, in which I have been deeply embedded for over a decade, in the roles of patient, healthcare professional, rare disease advocate and community leader.

As a child of Bangledeshi immigrants and a Muslim woman of color living with partial vision loss, I have worked since TSF’s inception to ensure that we champion diverse patient interests through governance, strategic outreach, and programming led by those we serve. At the core of our organization is our volunteer TSF Ambassadorship comprised of 75 individuals with lived neuroimmune experience. In the past 3 years, we have transitioned from a fully-volunteer based  organization to a small project-based team. This underscores our commitment to ensuring that our work remains community-driven and responsive to its evolving needs.

Project leadership includes Alanna Yee, TSF’s Director of Research and Education Initiatives, whose dual seronegative autoimmune encephalitis patient and medical laboratory scientist perspectives have been instrumental in advancing our solution from an abstract and aspirational patient concept to a concrete medical innovation. She is the former Program Director of Encephalitis411 and maintains intimate connections with multiple rare disease communities through volunteer roles including with the International Autoimmune Encephalitis Society, the Neuroimmune Foundation and the EveryLife Foundation for Rare Diseases. 

Other team members include: 

-Leda Bresnov, our International TSF Ambassador Liason, who previously worked in the life sciences sector and now manages our growing ambassador network. As a Brazilian/Danish NMO patient, she excels at guiding our efforts to tackle the distinctive challenges faced by patients globally. 

-Dr. Chelsey Judge, a member of TSF’s Stakeholder Advisory Committee and wife of a MS patient, whose lived experience as a sibling to an NMOSD patient motivated her to co-found the Connor B Judge Foundation in 2014 (acquired by TSF in 2022). With a PhD in immunology from Case Western Reserve University and background as Neurology Field Scientific Associator Director for Sanofi pharmaceuticals, Dr. Judge ensures that our work is grounded in both patient-centered perspectives and scientific rigor. 

-Dr. Michael Levy, Chair of TSF’s Medical Advisory Board and world-renowned neuroimmunology physician-scientist, whose guidance ensures the latest cutting-edge research developments are embedded into our solution.

Our community-driven approach has earned us trust across the neuroimmunology ecosystem. We maintain strong relationships with leading clinicians, researchers and industry partners, having allocated over $780,000 in research funding since 2018 to global researchers including those in low- and middle-income countries.

Our impact goals for this initiative are ambitious but realistic.

By the end of year one, we hope to have up to 3 pilot sites established and operating serving 3 different countries/regions.  These pilot sites will be providing highly accurate, automated, state-of-the-art neuroimmunological testing services for a select range of rare conditions at low or no cost to the patient or referring physician.  We will closely track all key performance metrics,  including test volumes, results, diagnoses, follow-ups, accuracy/sensitivity/selectivity, etc. by metro area, country and region, along with appropriate aggregated and de-identified patient demographic characteristics compliant with HIPAA, GDPR and/or other relevant local requirements.  We expect that TSF will be providing many fixed cell-based and tissue-based neuroimmune assays for previously unserved geographies, enabling correct and timely diagnoses to rare disease patients for the first time ever in those geographies.  Where necessary, we would aim to set up telehealth support for diagnostic and treatment decisions with relevant regional experts with whom we have existing relationships and collaborations.

Over the next five years, once our pilot initiatives prove successful, we hope to grow and scale this initiative to other areas with the greatest unmet medical/diagnostic need.  Ideally, we would establish a network of diagnostic centers of excellence that support the key regions with greatest access and resource challenges, including Latin America, sub-Saharan Africa, Middle East/North Africa, Eastern Europe, Central/South Asia, and Southeast Asia/Pacific Islands.  We would also aim to expand test coverage capabilities to other testing technologies/disease areas, including rare autoimmune and genetic conditions.  The goal would be to focus on tests that are otherwise unavailable, unreimbursed, or unaffordable, and continue to innovate the joint/pooled funding model with support from the biopharmaceutical industry and other stakeholders, such as private and public payors and insurers.  We would continue to track key performance metrics and add new ones.  Other insights and learnings gleaned from our initial pilot initiatives will of course be factored into our plans, priorities and activities over the next five years.

Rare diseases pose a real challenge for the health care system and the world at large.  There are over ten thousand rare diseases, and by definition each rare disease affects only a small population, usually scattered around the globe.  This makes it difficult to train clinicians with appropriate expertise about each disease, how to diagnose each one correctly, and how to treat each one (where a treatment even exists). 

Yet in aggregate, experts estimate that rare diseases affect as many as 1 in 10 individuals globally, or 800 million people around the world.  Many of these conditions are devastating and deadly if they go undiagnosed, mis-diagnosed or untreated/improperly treated. 

The good news is that in certain areas of rare disease, much progress has been made, both in diagnostics and in therapeutics.  This includes many rare neuroimmune diseases, including NMOSD, MOGAD, AE, MG, CIDP and others.  Once accurately diagnosed, many of these conditions can be stabilized and managed indefinitely, allowing patients to return to work and a more normal life.

The challenge is that many neuroimmune conditions are difficult to diagnose without the right tests and expertise.  If diagnosed early and accurately, many patients can be managed on low-cost, generic therapies such as rituximab, azathioprine, mycophenolate mofetil, or oral steroids.  Others can be managed with newer, on-label therapies specifically proven to work for their conditions.  Early diagnosis and intervention can be life-changing, life-altering, even life-saving for many patients.  TSF has seen many patients make full or near-full recoveries from first-onset attacks with timely diagnosis and appropriate treatment.

Without correct diagnosis, or delayed diagnosis, many patients can suffer catastrophic autoimmune attacks, leading to hospitalization, blindness, paralysis and even death, with huge direct and indirect costs to the health care system and society at large.  The accompanying emotional toll these diseases take on patients and families is beyond measure.  Patients suffering from repeated attacks continue to deteriorate.  Untreated, many conditions lead to greatly reduced life expectancies for patients.  This is especially tragic given that testing exists for many conditions, is relatively inexpensive, and allows patients to stabilize and prevent future attacks via relatively low-cost, off-patent medicines. 

Our solution is simple:  to provide early, easy and affordable access to accurate tests to rare neuroimmune patients around the world, so that they can receive a correct diagnosis and affordable therapy to avoid disease progression and future disability.  In many cases, such patients can then return to their families, their careers and their communities as fully capable and productive members.

There’s an old adage along the lines of “you can’t manage what you don’t measure.”  Likewise, in medicine, “you can’t treat what you don’t diagnose.”  TSF aspires to fix that problem globally for rare neuroimmune diseases.

Fixed cell-based and tissue-based autoimmune antibody assays have been commercially available for years, as have the enabling automation, imaging and telehealth platforms used to perform, image, interpret, transmit and store tests and their accompanying results.  Many peer-reviewed research and clinical journal articles review their utility and use them to document positive diagnoses. For more details and some clear examples for NMOSD and AE, please see:

Waters P, Reindl M, Saiz A, Schanda K, Tuller F, Kral V, Nytrova P, Sobek O, Nielsen HH, Barington T, Lillevang ST, Illes Z, Rentzsch K, Berthele A, Berki T, Granieri L, Bertolotto A, Giometto B, Zuliani L, Hamann D, van Pelt ED, Hintzen R, Höftberger R, Costa C, Comabella M, Montalban X, Tintoré M, Siva A, Altintas A, Deniz G, Woodhall M, Palace J, Paul F, Hartung HP, Aktas O, Jarius S, Wildemann B, Vedeler C, Ruiz A, Leite MI, Trillenberg P, Probst M, Saschenbrecker S, Vincent A, Marignier R. 

Multicentre comparison of a diagnostic assay: aquaporin-4 antibodies in neuromyelitis optica. J Neurol Neurosurg Psychiatry. 2016 Sep;87(9):1005-15. doi: 10.1136/jnnp-2015-312601. Epub 2016 Apr 25. PMID: 27113605; PMCID: PMC5013123.

Ricken G, Schwaiger C, De Simoni D, Pichler V, Lang J, Glatter S, Macher S, Rommer PS, Scholze P, Kubista H, Koneczny I, Höftberger R. 

Detection Methods for Autoantibodies in Suspected Autoimmune Encephalitis. Front Neurol. 2018 Oct 10;9:841. doi: 10.3389/fneur.2018.00841. PMID: 30364136; PMCID: PMC6191500. Gilligan M, McGuigan C, McKeon A. 

Autoimmune central nervous system disorders: Antibody testing and its clinical utility. Clin Biochem. 2024 Apr;126:110746. doi: 10.1016/j.clinbiochem.2024.110746. Epub 2024 Mar 8. PMID: 38462203; PMCID: PMC11016295.

3 full-time staff, 2 part-time staff, and around 10 additional team members from academic medical centers, diagnostics providers and biotechnology companies, including leading diagnostic key opinion leader clinicians from the USA and Europe.

1.5 years

As a patient-led, patient-powered, and patient-centered organization, TSF is anchored by an active TSF Ambassador team of over 75 individuals with lived neuroimmune experience. This diverse team spans 28 countries and speaks 24 languages, serving as our direct link to the nuanced experiences of patients globally. We also convene a quarterly multi-stakeholder health equity advisory panel that guides TSF outreach efforts and programs, ensuring that our work remains accessible and responsive to the needs of all neuroimmunology stakeholders, especially those from underserved populations.

Our commitment to DEI principles is reflected in the composition of our team, with two thirds identifying as persons of color and/or members of other underrepresented groups including:

- 14 with African heritage

-14 with Asian heritage

-9 with Latinx heritage

-6 from rural communities

-3 with Native American heritage

-3 members of the LGBTQ+ community

We strive to create a welcoming and inclusive environment where every individual feels respected, supported, valued and empowered to contribute their unique perspectives and talents. This is achieved through continuous communication mechanisms and tight feedback loops facilitated through regular meetings, Slack communication, check-in calls, internal surveys, team-building activities and annual professional development summits. These practices ensure we remain accessible, cohesive, effective and intimately attuned to our team’s evolving priorities and needs.

Our commitment to diversity extends beyond representation to creating an inclusive environment where all voices are heard and valued. We’ve implemented several strategies to minimize barriers to opportunity and promote equity, including:

-Flexible engagement: we offer various ways for team members to contribute, accommodating different abilities, time zones, life circumstances and interests.

-Accessibility: we offer multilingual resources (including website translation into 24 languages) and ensure our virtual and in-person events are accessible to those with various needs and disabilities.

-Mentorship: we believe in the importance of having diverse patients, caregivers and others with lived experience in leadership positions. Our goal is to amplify diverse voices and provide guidance, training, and tools to help team members achieve both personal and professional goals.

As a result of these efforts, TSF Ambassadors have been empowered to play lead roles in activities such as:

-Administering TSF research grants

-Recruiting diverse clinical trial participants

-Hosting podcasts, webinars, support groups and panels in multiple languages 

-Developing educational resources to advance health equity for neuroimmune patients

-Advocating for rare disease policy reform during Rare Disease Week in Washington DC

-Representing the lived experience perspective in the development of diagnostic criteria

-Speaking at esteemed academic conferences such as ECTRIMS/ACTRIMS (The European and American Committees for Treatment and Research in Multiple Sclerosis).

By placing DEI at the forefront of our efforts, we not only create a more welcoming environment for our team but also ensure that our initiatives authentically reflect and serve the diverse needs of the global rare neuroimmune community. Our TSF Ambassadors and leadership team, characterized by vibrant and inclusive representation, is what makes TSF distinctive and effective in our mission to improve the lives of those affected by rare neuroimmune disorders.

TSF is a 501(c)(3) non-profit patient advocacy organization focused on improving the lives of those affected by rare neuroimmune disorders.  Our business model centers on providing value through 4 key pillars:

1. Generating global awareness of rare neuroimmune disorders;

2. Building communities of support for patients and their caregivers;

3. Supporting neuroimmunology research initiatives globally; and 

4. Advocating on behalf of those living with rare neuroimmune disorders.

We deliver our services through a multi-faceted approach that includes:

-Direct patient/caregiver engagement via our website, social media, online forums and in-person TSF Patient Days;

-Partnerships with leading clinicians, researchers and academic medical centers;

-Collaboration with diagnostic companies and other industry 

-Advocacy initiatives with policymakers and healthcare systems;

-Educational programming including webinars, podcasts and other multimedia content to disseminate the latest information on rare neuroimmune disorders; 

-Development and distribution of educational materials for patients, caregivers and healthcare providers; and

-Grants to advance clinical, translational, pediatric and basic research. 

Our beneficiaries face immense challenges stemming from the rarity and complexity of their conditions. Our services address significant unmet needs and aim to support faster diagnosis, access to treatment, and improved patient outcomes. We fill critical gaps in the neuroimmune ecosystem through fostering collaboration across stakeholder networks and executing community-driven solutions such as those outlined in this application.

TSF’s funding model relies on a diverse set of revenue streams:

-Grants from research funding bodies (e.g. PCORI, the Patient-Centered Outcomes Research Institute)

-Charitable contributions from companies and therapy makers

-Donations from patients, families and other supporters

-Proceeds from fund-raising events and campaigns

Over the past decade, TSF has established itself as a distinguished leader in rare neuroimmune patient advocacy. We leverage support from a network of over 7500 patients, caregivers, clinicians, researchers and other stakeholders invested in improving outcomes for the rare neuroimmune community. Looking ahead, TSF remains dedicated to expanding its impact, fostering greater collaboration, advancing research breakthroughs, advocating tirelessly for policies that enhance the quality of life for individuals affected by rare neuroimmune disorders, and developing innovative solutions to solve the complex challenges faced by our community. 

TSF has received funding from a variety of sources over the years, including grants from grant-making quasi-governmental foundations such as PCORI and charitable contributions from therapy makers.  Given the nature of rare disease, therapy makers are key partners for funding patient advocacy efforts around disease awareness, diagnosis and treatment options.  TSF has a proven track record over the last six years in our ability to raise funds from biopharma, diagnostic and other companies, as well as win highly competitive grants such as PCORI. 

With over 20 approved biologics available to treat multiple sclerosis, NMOSD and other neuroimmune conditions, and a large and growing pipeline of neuroimmune therapies in late-stage clinical development, TSF believes there is a way to partner intelligently with biopharma and diagnostics companies to make rare neuroimmune diagnostic testing more readily and easily available globally.  

In fact, therapy makers struggle with the many challenges to early and accurate diagnosis for rare diseases that prevent patients from receiving appropriate and timely treatments, yet they are neither equipped nor (in many cases) permitted to do anything directly to resolve the bottlenecks on their own.  Some do provide funding at a local level to overcome testing hurdles, but these efforts are sub-scale and have only marginal impact on the underlying problem.  Many have approached TSF with great interest in our Global Diagnostics Initiative and are ready to support it in part. 

This is not just wishful thinking on our part.  There is a clear precedent for such an approach:  the large and growing number of FDA-approved drugs that require companion diagnostic tests.  As of 2021, there were 46 such drugs.  The difference here is that currently approved neuroimmune drugs do not have required companion diagnostics, but many of them do require a positive autoantibody test result for prescription approval and reimbursement.  TSF aims to innovate in this space by providing a mechanism for pooled funding of tests via charitable contributions.  This is already happening to a small extent at individual medical centers, but at great cost and with limited reach and impact.  TSF believes that, operating as a non-profit, our model would be more scalable, affordable and fundable, and could serve entire countries or regions for rare neuroimmune testing services. 

Furthermore, there are precedents for pooled funding in the form of patient assistance funds, both financial and in-kind.  Co-payment assistance is a pooled mechanism via non-profits that receives significant financial support from the pharmaceutical industry.  These non-profit programs provide billions of dollars of financial support in the US market alone.  Other funds provide in-kind assistance in the form of compassionate-use donations of drugs, devices, supplies and other forms of assistance.  

With good proof-of-concept results from piloting our existing “MVL” prototype diagnostic model, TSF is confident that other mechanisms for additional funding will become apparent and available, which we will aggressively pursue (e.g., private and public reimbursement opportunities via health insurance and payor channels).