Summary

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, fatal neurological disease for which there are no treatments that stop or reverse disease progression. At least 30,000 individuals in the United States have ALS at any given time. The pathological hallmark of ALS is progressive degeneration of motor neurons that causes a gradual loss of motor functions, but no two people with ALS will experience the disease in the same way or have their disease progress at the same rate.

Approximately two-thirds of individuals with ALS initially experience effects in the muscles of the hands, forearms, calves, and feet. This form of ALS is called limb-onset ALS. The other one-third of patients first experience weakness in the muscles around the mouth and throat and develop what is called bulbar-onset ALS. Over time, these symptoms progress toward other areas of the body until all muscle groups are paralyzed. People with ALS often find motor tasks such as walking, eating, and interacting with objects increasingly difficult as their disease progresses, and many then require assistance with day-to-day activities. Death usually results from respiratory failure when the muscles responsible for breathing become paralyzed. People living with ALS typically experience respiratory failure within 2 to 5 years of when symptoms first appear. Approximately 10 to 20 percent of ALS patients survive longer than 10 years and this is typically seen in people with younger-onset ALS. ALS subtype affects survival, as do genetics and cognitive involvement.

ALS is a multisystem disease with a high prevalence of secondary symptoms, including fatigue, pain, insomnia, anxiety, depression, and shortness of breath. The effect of secondary symptoms affecting quality of life is not as well recognized.

Sporadic ALS occurs randomly in individuals without a family history of ALS and accounts for approximately 90 percent of all cases. Familial ALS refers to individuals with ALS who have a known family history of the disease. Seventy percent of individuals with familial ALS are carriers of known ALS-associated gene mutations. Research has identified close to 50 genes associated with ALS when mutated, with additional gene variants considered to be risk factors of ALS disease manifestation.

Research has linked contributions from a variety of environmental exposures to the development of sporadic ALS. These include exposure to pesticides and air pollution, being a veteran or working in occupations such as agriculture and painting, and exposure to repeat physical trauma.

NATIONAL ACADEMIES STUDY PROCESS

In response to the devastating nature of ALS for individuals and their families, Congress, in the Consolidated Appropriations Act of 2022, directed the National Institutes of Health (NIH) to commission a study by the National Academies of Sciences, Engineering, and Medicine (the National Academies) to identify and recommend actions for the public, private, and nonprofit sectors to undertake that would make ALS a livable disease within a decade. The National Institute of Neurological Disorders and Stroke (NINDS) contracted with the National Academies to address the statement of task (see Box 1-1 in Chapter 1).

The National Academies established a committee of 18 volunteer experts with the experience and skills to accomplish the statement of task.¹ The committee included individuals with expertise in neurology, rehabilitation, pulmonary, and primary care; translational ALS and frontotemporal dementia (FTD) research; health law and policy; ethics; public health; health care financing; nursing and long-term care; and therapeutic development and regulatory pathways, as well individuals with ALS lived experience. The committee considered the scientific literature on ALS and listened to and carefully considered the perspectives of people affected by ALS. This included perspectives of people living with ALS, caregivers, family members, and people with a genetic risk of developing ALS.

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¹ See https://www.nationalacademies.org/about for a detailed overview of the National Academies and see https://www.nationalacademies.org/about/our-study-process for an overview of the National Academies’ study process (accessed June 10, 2024).

LIVING WITH ALS TODAY

In the committee’s own discussions, and in discussions with people living with ALS, the committee realized that making the disease “livable” has two important, primary dimensions: (1) increasing the effectiveness of treatment, with the goal of managing symptoms, increasing longevity and ultimately finding a cure; and (2) increasing the quality of life, as measured by the level of satisfaction and enjoyment experienced by people with ALS. This means that ALS is livable when an individual diagnosed with ALS or at genetic risk of developing ALS can survive, thrive, and live a long, meaningful life while meeting the medical, psychosocial, and economic challenges of the disease. Guaranteeing equitable access to high-quality multidisciplinary care for all individuals, regardless of socioeconomic status or geographical location, is of paramount importance. This would include providing affordable and equitable access to physical, occupational, speech, respiratory, and behavioral therapies; nutritional support; durable medical equipment (DME), such as electric wheelchairs and home ventilators; and palliative care, all without having to prove present or future necessity, given the diagnosis of ALS. Eliminating the substantial delay many people with ALS experience in getting a clear diagnosis is also critically important, both to start multidisciplinary care as soon as possible and to alleviate the substantial emotional burden that comes with waiting and uncertainty while circling around a diagnosis. Reducing diagnostic delay will require, in part, better educating primary care physicians and general neurologists about ALS and its many presentations.

Other issues that make life harder for individuals affected by ALS include:

• Insurance barriers: People with ALS can face challenges in acquiring medically indicated equipment, technology, and therapeutics and dealing with an often-convoluted system for obtaining prior authorizations.
• Inadequate home services: There is a serious challenge in accessing high-quality, affordable home health services for the complex and evolving needs of people with ALS.
• Inadequate access to respiratory care: Despite strong evidence that proactive respiratory management prolongs survival and improves quality of life, barriers remain to delivering optimal clinical respiratory care for people living with ALS.
• High out-of-pocket costs: The out-of-pocket costs for individuals with ALS and their families vary greatly—individuals with ALS who receive care through the Department of Veterans Affairs are spared financial devastation whereas many individuals with ALS

who have private insurance need to seek other financial support for home modifications or services and devices they need to make the disease more livable. ALS was the most common neurological condition that users created campaigns for on GoFundMe, a crowdsourced fundraising platform.

• Caregivers: The physical, emotional, and financial demands of caring for someone with ALS are substantial and can lead to depression, anxiety, burnout, and other impairments.

Providing Multidisciplinary Care Is Key

The committee believes that every individual living with ALS deserves early and continuous access to multidisciplinary,² state-of-the-art care to help them lead longer lives, remain functionally independent, and optimize overall quality of life. Multidisciplinary clinics provide coordinated, team-based management across multiple medical and allied health specialties and serve as a one-stop shop for complex multisystem diseases, such as ALS. However, there is no definitive count of the number of people living with ALS today who receive evidence-based standard of care at a multidisciplinary clinic but one estimate from the ALS Association suggests that it is at best about half of the population.³ A multidisciplinary care clinic serves as a single site for many services for people living with ALS, confirming diagnosis, initiating and monitoring therapies, providing medications and assistive technology devices, and managing multisystem symptoms. A multidisciplinary care clinic also directly provides or provides connections to specialized health and supportive services to track disease progression, improve quality of life, and prolong functional independence. A multidisciplinary care clinic may also provide palliative care services for individualized advanced care planning based on ALS disease progression.

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² As stated in Chapter 2, the committee notes that interdisciplinary, rather than multidisciplinary, is the more accurate term because interdisciplinary denotes that the various disciplines are coordinated toward a common and coherent approach, while multidisciplinary refers to the addition of the competencies of multiple professionals who stay within the boundaries of their fields. The Veterans Health Administration refers to the ALS interdisciplinary team in its directive on providing ALS care to veterans. The committee has chosen to use multidisciplinary in the report because it is the more widely used term.

³ In an October 18, 2023, letter to the committee from the ALS Association, it is stated: “Although multidisciplinary ALS care can add nine months of life, it is woefully underfunded and often difficult to deliver. Only about half the people served at ALS Certified Treatment Centers of Excellence receive this well-established, evidence-based standard of care.”

In this report the committee offers recommendations in the following four domains that, if implemented, would make ALS a more livable disease within a decade.

1. Short-term actions to remove barriers for people with ALS to receive care and services that improve quality of life (Recommendations 3-1 to 3-5).
2. Longer-term actions to build a sustainable, integrated, and coordinated system of ALS care and research (Recommendations 4-1 to 4-4).
3. Actions to improve epidemiological data, accelerate research and therapeutic development, and advance understanding of what works best in ALS care (Recommendations 5-1 to 5-4).
4. Actions to advance ALS prevention research and ultimately stop the disease from developing in at-risk populations (Recommendations 6-1 and 6-2).

Actions That Are Feasible Immediately and Would Have an Important Effect on Livability

The following short-term actions are recommended by the committee to make ALS a livable disease (Recommendations 3-1 to 3-5):

Recommendation 3-1: Facilitate expedited access to and coverage of essential ALS medical and support services.

The Centers for Medicare & Medicaid Services (CMS) and private insurers should act quickly to enable expedited access to the following essential ALS medical and support services:

1. Provide coverage for home-based and outpatient physical and other support services for persons with ALS as necessary, of the type and duration needed by persons with ALS, even if services are occurring concomitantly. Congress should grant CMS the authority to provide concomitant services at home and as an outpatient for progressive, neurodegenerative diseases such as ALS.
2. Commit to expedited (within 72 hours) responses to prior authorization requests for all therapies, durable medical equipment, assistive technologies, and services for persons with ALS.
3. Do not deny services for persons with ALS based on failure to show functional improvement, given the progressive nature of the illness.
4. Establish a call center for persons living with ALS, and possibly other rare diseases, and their caregivers to report challenges in receiving care and services.

5. Work with ALS organizations and persons living with ALS and their families to develop a “Know Your Rights” document that describes Medicare, Medicaid, and private insurance requirements and empowers individuals living with ALS to combat misinformation and improper denial of services.

Recommendation 3-2: Enable all persons with ALS to access and make full use of ALS care.

Congress should act quickly to enable all persons with ALS to access timely, specialty ALS care by doing the following:

1. Expand the status of ALS as a qualifying condition for Medicare coverage, such that persons with ALS are eligible for Medicare coverage regardless of age, employment history, or other criteria influencing Medicare or Social Security Disability Insurance eligibility.
2. Require reimbursement of multidisciplinary ALS care under a bundled payment method commensurate with the services provided.

Recommendation 3-3: Provide centralized resources for people with ALS to receive support for needs not otherwise accessible or covered by insurance. ALS nonprofit organizations and patient-serving associations should collaborate to create and maintain centralized resources to guide people with ALS and their caregivers to organizations and funding mechanisms that can provide financial support for needs not otherwise accessible to them or covered by Medicare, Medicaid, and private insurance. These might include such things as mental health services, modifications to home environments, securing equipment and assistive technologies, and transportation.

Recommendation 3-4: Address the needs of unpaid caregivers.

Congress, the Centers for Medicare & Medicaid Services (CMS), private insurers, and ALS organizations should address the needs of unpaid caregivers, including respite care, reimbursement for caregiving, and mental and other health support services, including the following:

1. National and local ALS nonprofits should collaborate to develop a priority list of caregiver needs to inform collective advocacy efforts of national ALS nonprofits. This could be accompanied by a guide for ALS caregivers on what to expect through the course of disease and identify resources,

which would be used by all national nonprofits and updated collaboratively.

2. Congress should provide financial support for caregivers by amending the tax code to provide a tax credit that could be used by caregivers for individuals living with ALS, as well as all progressive neurodegenerative diseases to alleviate the financial burden of providing unpaid care. Congress should also provide other types of financial relief for caregivers, including allowing them to apply health savings account or flexible saving account funds to caring for a parent or parent-in-law.
3. CMS should ensure legally covered services for home health aides are accessible.
4. CMS should expand tests of payment and service delivery models, such as the Guiding an Improved Dementia Experience model for people with dementia and their caregivers, to include ALS, or create new programs specifically designed to support persons with ALS and their unpaid caregivers. These tests should include:
   • Stipends paid directly to caregivers on an at least a monthly basis,
   • Reimbursing persons with ALS and their caregivers for accessing mental health counseling and psychotherapy via video telehealth (across state lines), and
   • Access to high-quality respite care services.

Recommendation 3-5: Enable access to respiratory devices and services for people with ALS.

The Centers for Medicare & Medicaid Services (CMS) and private insurers should immediately align coverage of respiratory devices and services for persons with ALS with the current standard of care. CMS and private insurers should also develop reimbursement models that allow respiratory professionals to provide high-quality, longitudinal respiratory care in the home of a person with ALS.

BUILDING THE IDEAL ALS CARE DELIVERY SYSTEM

Today, there is notable variation across clinics in the quality and consistency of care individuals with ALS receive, including prescribing of standard-of-care therapeutics, use of noninvasive ventilation, use of off-label supplements and medications, clinical trial participation, and access to investigational therapies via expanded access protocols. Making ALS a livable disease requires diagnosing individuals earlier and initiating

evidence-based multidisciplinary care by ALS specialists immediately and continuously. At the same time, because of the progressive nature of the disease that makes travel difficult, individuals living with ALS need access to multidisciplinary care at a geographically accessible location in their communities or via telehealth to ensure continuous access to care services throughout the illness. Simply proliferating the number of stand-alone ALS clinics will not solve the issue of earlier referral because the current clinic system is not integrated or coordinated. What is feasible is to build a reimagined, inclusive, and integrated care and research system for people living with ALS, building on what already exists, that comprises three care settings: (1) Community-Based ALS Centers, (2) Regional ALS Centers, and (3) Comprehensive ALS Care and Research Centers. This new system, modeled after “hub-and-spoke” systems of care and research for cancer and stroke, is designed to fill gaps in access to ALS care and research across the United States. Each care setting in the network would provide defined clinical care services and research capabilities and be accountable for achieving quality metrics.

Every person with ALS and their family will be able to use all three care settings to meet their needs for specialized care and research services at a geographically convenient location. The reimagined ALS care system will build on and strengthen the preexisting ALS Association– and Muscular Dystrophy Association–certified multidisciplinary clinic systems, centralizing oversight to ensure care quality, provide additional infrastructures to collect population health data, and coordinate care across settings. This system will encourage innovative approaches to bringing care to people with ALS such as expanded telehealth services, house call visits, and satellite clinics.

The resulting highly integrated system of care should more easily reach underrepresented and underserved people living with ALS and those living in remote areas of the United States and all U.S. territories. Today, there are many non-ALS-trained neurologists providing care to people living with ALS in general neurology or general neuromuscular clinics who could be integrated into the new ALS care system under the guidance of Comprehensive ALS Care and Research Centers. This would expand the number of general neurology and neuromuscular clinics within the ALS care and research system, enhancing access to care and reducing the time to diagnosis.

The committee notes that the U.S. Department of Veterans Affairs (VA) has demonstrated an exemplary system of ALS care that is interdisciplinary, proactive, and patient-centric. One unique and important feature of the VA model is that veterans with ALS are largely spared the substantial financial burdens related to ongoing care and acquisition of pharmacological and nonpharmacological therapies and DME. However, veterans receiving ALS care within VA clinics have limited access to clinical research. The committee believes that, given the known higher prevalence of ALS

in veterans, it is critical to include the VA ALS system of care in the new integrated ALS network of care and research proposed in this report. Despite rules separating the VA system from other care systems, integration would ensure equitable and streamlined access to the highest standard of clinical care for veterans, as well as the ability to participate in clinical trials. Investment in the VA to achieve these goals would require separate, congressionally mandated funding to build a research infrastructure and organized network of care that would integrate into the proposed model of care and research recommended in this report.

Meeting the Challenge of Payment and Reimbursement for ALS Multidisciplinary Care and Research

Multidisciplinary care visits require multiple hours and involve several health professionals, but this type of care is reimbursed at the same rate as a single specialist’s 30- to 60-minute office visit. This places a financial strain on ALS multidisciplinary clinics, hindering their ability to hire, retain, and expand the clinic staff to meet the needs of people living with ALS and their families. Today, larger ALS clinics rely heavily on philanthropy and institutional resources, which is unsustainable, exacerbates the significant variations in resources that exist across ALS clinics, and limits access to state-of-the-art care.

The current funding structure for ALS multidisciplinary clinics is not a sustainable model to provide high-quality care. Reimbursement policies need to promote the seamless delivery of clinical care and home-based services and equipment, including the use of telehealth to provide services across state lines—this would be similar to what VA offers veterans with ALS through their exemplary model.

The following longer-term solutions are recommended by the committee to make ALS a livable disease, with additional details about supporting evidence and proposed implementation provided in the report chapters. To develop an integrated multidisciplinary care and research system that would provide high-quality care and access to research opportunities for all people with ALS the committee offers Recommendations 4-1 through 4-4.

Recommendation 4-1: Build an inclusive and integrated ALS multidisciplinary care and research system.

The Centers for Medicare & Medicaid Services and the National Institute of Neurological Disorders and Stroke, in partnership with current ALS multidisciplinary care clinic system leaders (e.g., U.S. Department of Veterans Affairs, ALS Association, Muscular Dystrophy Association),

and community-based providers should build an inclusive and integrated multidisciplinary care and research system for people living with ALS. This network should consist of:

1. Community-Based ALS Centers,
2. Regional ALS Centers, and
3. Comprehensive ALS Care and Research Centers.

Recommendation 4-2: Improve racial and ethnic equity in the ALS care and research system.

ALS multidisciplinary clinics should partner with community members and community-serving organizations to pursue targeted approaches to understanding and improving racial and ethnic equity in ALS care and outcomes in their geographic area.

The committee believes there are several opportunities that ALS clinics, in partnership with entities that serve the local community such as Federally Qualified Health Centers, should pursue, including the following:

• Create community-focused steering committees. Each Community-Based ALS Care Center, as recommended in this report, in the newly integrated ALS care and research system should include a steering committee that would include multiple community members—individuals living with ALS, former ALS caregivers, at-risk genetic carriers, and other ALS experts from diverse racial and ethnic backgrounds, including non-English speaking individuals, among others—to build a bridge to the community and help develop programs to bring people who might otherwise go unnoticed into the ALS system.
• Collect and analyze data on racial equity. ALS centers should be expected to measure and address racial equity. Local clinics should report on the unique factors contributing to diagnostic delays in their geographic area. This responsibility to their population could be tied to funding and be a condition of qualifying as an ALS center.
• Adopt antiracism and implicit bias training as an expected and regular part of training. Each Comprehensive ALS Care and Research Center should lead antiracism and implicit bias training for center staff and clinicians that is not a one-time exercise but a regular part of training. Training would include developing an understanding of disparities in ALS, the social and structural determinants of health, and what it looks like to provide good care to diverse and historically underrepresented populations.

Recommendation 4-3: Align reimbursement to achieve the goals of the ALS clinical care and research system.

The Centers for Medicare & Medicaid Services, private insurers, the National Institutes of Health, and the National Institute of Neurological Disorders and Stroke should align reimbursement and the goals of the new, inclusive, and integrated ALS clinical care and research system.

Recommendation 4-4: Enhance access to ALS clinical care and research and education opportunities within the U.S. Department of Veterans Affairs (VA).

Congress should allocate specific funding to create a VA network for ALS clinical care, research, education, and innovation to align with the new system of care outlined in this report. VA should use these funds to resolve ALS workforce shortages, ensure access to comprehensive ALS care for veterans regardless of geographic location, increase the number of health professional training opportunities to support ALS care for veterans, and invest in clinical and informatics resources at VA to enhance existing collaboration with the Centers for Disease Control and Prevention ALS registry.

ADVANCING ALS RESEARCH AND ACCELERATING THERAPEUTIC DEVELOPMENT

The history of drug development for ALS is filled with many failures and too few successful drugs. The four unique drugs the U.S. Food and Drug Administration (FDA) has approved for ALS have limited clinical benefit.⁴ Over the past decade, numerous research advances have identified a wide range of potential therapeutic pathways and potential drug targets and genes associated with ALS, but the small pool of available research participants, exacerbated by restrictive clinical trial eligibility criteria and delays from symptom onset to diagnosis and clinical trial entry, a lack of biomarkers, and overall limited understanding of the disease are factors contributing to the lack of significant success drug developers have had in the ALS realm.

The committee notes that industry, academia, the federal government, and nonprofit organizations are all involved in some manner in efforts to

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⁴ As the committee was finishing its work on this report, the company developing AMX0035/Relyvrio announced the latest results of a Phase 3 trial in which the drug performed no better than placebo. In April 2024, the company began the process of removing Relyvrio from the market.

develop therapeutics for ALS, often in collaboration across sectors. New ALS initiatives are underway, focused primarily on enhancing funding and coordination for basic research and drug development and spurred by the 2021 Accelerating Access to Critical Therapies for ALS Act (ACT for ALS). Section 3 of ACT for ALS authorized the U.S. Department of Health and Human Services Public-Private Partnership for Rare Neurodegenerative Diseases among NIH, FDA, and other eligible entities. NIH and FDA are collaborating to establish this partnership, which has three integrated components in the design and implementation phases during this project’s timeframe: (1) Critical Path for Rare Neurodegenerative Diseases (CP-RND), (2) Accelerating Medicines Partnership in ALS (AMP ALS), and (3) Access for ALL in ALS Clinical Research Consortium (ALL ALS).

Integrating Clinical Research into the ALS Care Delivery Network

Although a variety of mechanisms exist for conducting clinical trials a centralized, dedicated ALS clinical trials network that builds on and brings together existing ALS clinical trial consortia would provide a coherent approach to clinical trials and natural history studies that permits faster answers to multiple questions at once. The committee believes that a centralized, NIH-led ALS clinical trials network would provide the best of each currently available network and harmonize approaches and support to see improvement in ALS trial success.

An ALS clinical trials network would need to include participants from the entire population of individuals living with ALS, particularly individuals representing diverse ethnic and racial populations, and it should be strategic in site selection to expand the opportunities for individuals to participate who might otherwise not want to travel a long distance to participate in a clinical trial. Such a network dedicated to ALS would create an opportunity for scores of multidisciplinary ALS centers in diverse geographic areas to be designated and accredited under the new proposed nationwide integrated system of care and research to bring clinical trials closer to ALS individuals’ homes across the nation.

New and Emerging Nonpharmacological Technologies

Technological advances have created opportunities for technology-mediated tools to provide support for persons with ALS and their families and improve quality of life at home. For example, advances in telehealth technology have accelerated home monitoring opportunities. Eye-tracking communication devices enable patients with advanced paralysis to communicate using eye movements. Brain–computer interfaces (BCIs) allow patients to communicate by translating brain signals into text or speech,

offering an alternative communication method for those with severe motor impairments. Emerging technologies need to be developed with the engagement of end users, consideration of data privacy and security, attention to inclusive technologies that reduce rather than exacerbate health disparities and using technology to facilitate and increase access to clinical trials for individuals living with ALS.

Establishing a Comprehensive ALS Registry

A robust registry of people with ALS would help measure progress toward making ALS a more livable disease. It would collect data on care, outcomes, and risk factors, providing a valuable population-level perspective on living with ALS. Patient registries have been used to great effect in other disease spaces, such as cystic fibrosis, to collect information on patient demographics and survival while assessing clinical performance.

The Centers for Disease Control and Prevention (CDC) National ALS Registry is currently the primary nationwide effort to count ALS cases in the United States. It records demographic information for all registrants via self-enrollment or administrative data; people with ALS can provide other information, such as clinical characteristics and risk factor exposure, via optional surveys. However, the National ALS Registry is inadequate. Its data are incomplete, nonrepresentative, and not reported in a timely manner. By including registration as a routine part of care at every multidisciplinary ALS center and reporting that data more regularly, the National ALS Registry could be made more impactful as a source of population health data.

The National ALS Registry could also serve as the key population health element of a larger ALS data platform. ALS data collection today is fragmented and uncoordinated. Data are collected by natural history studies, biorepositories, state-level ALS registries, and other sources. Including ALS among CDC’s list of National Notifiable Conditions would add another highly useful data source. Making the National ALS Registry interoperable with these data sources would magnify its impact and connect currently siloed data.

Recommendation 5-1: Create an ALS clinical trials network.

The National Institute of Neurological Disorders and Stroke should ensure the existence of a dedicated ALS clinical trials network distributed across diverse geographic regions in the United States, coordinated and funded by the National Institutes of Health. To be most effective, the ALS clinical trials network should be integrated with the hub-and-spoke clinical care network recommended in this report.

Recommendation 5-2: Expand ALS translational research.

The ALS-focused public–private partnerships created under the Accelerating Access for Critical Therapies for ALS Act should consider additional translational research priorities that would accelerate therapeutic developments in ALS. (See full Recommendation 5-2 in Chapter 5 for research priorities.)

Recommendation 5-3: Build a comprehensive ALS registry as part of a larger ALS data platform.

The Centers for Disease Control and Prevention (CDC) and the National Institute of Neurological Disorders and Stroke (e.g., Access for ALL in ALS Clinical Research Consortium) should integrate new and current data sources with CDC’s National ALS Registry to create a comprehensive, interoperable data platform capable of collecting detailed, geocoded, longitudinal data on all individuals living with ALS, as well as people at increased genetic risk of developing ALS. To make this registry most useful, CDC and the Council of State and Territorial Epidemiologists should add ALS to the National Notifiable Diseases Surveillance System, and states should require clinicians to report all cases of ALS.

Recommendation 5-4: Fund neglected areas of research that would yield near-term gains in quality of life for people with ALS.

The National Institutes of Health, the National Institute of Neurological Disorders and Stroke, the Agency for Healthcare Research and Quality, and other ALS research funders should prioritize research to learn what works best in ALS care and increase support for other critical areas of ALS research that are currently neglected but would yield near-term gains in quality of life for persons with ALS. (Such as health services research and evaluations of nonpharmacologic interventions, services, and approaches [e.g., physical therapy, speech and language supports, and respiratory therapy]. See full Recommendation 5-4 in Chapter 5 for a list of recommended research priorities.)

PREVENTING ALS

Individuals with ALS and at-risk genetic carriers need to be able to access genetic testing and counseling. In addition to knowing valuable information about their genetic risk for developing ALS, the more people who have access to their genetic information could provide more data for researchers seeking to answer important questions about how and when

ALS develops or does not develop in certain individuals. Access to genetic testing and counseling varies widely across clinics and programs that provide reduced or no-cost genetic testing panels for ALS.

Research that identifies new targets for therapeutic intervention, biomarkers of ALS, risk factors contributing to the development of ALS, and environmental exposures that contribute to the development of ALS raises the possibility of developing agents or interventions that can delay or even prevent the development or progression of ALS. With the first prevention trial underway in an at-risk genetic carrier population (Biogen trial of tofersen) there is reason to believe additional research studies in genetic carriers will be possible in the future. To get to this point, the challenge is to develop evidence for clinical benefit and a biomarker signal in a symptomatic population before launching a study to evaluate disease progression or conversion to disease in an at-risk asymptomatic population. These studies can be long and challenging and will require increased collaboration and partnership among research funders, drug developers, and ALS nonprofit organizations and the affected communities to realize progress.

Recommendation 6-1: Increase access to genetic testing and counseling for people with ALS and their families.

Genetic testing and counseling should be made substantially more easily and consistently available for people with ALS and their families. The Centers for Medicare & Medicaid Services and private insurers should pay for genetic testing and counseling for all people living with ALS and their families. State legislatures should examine possible measures to prohibit genetic discrimination in life insurance, long-term care insurance, and disability insurance based on genetic risk for ALS.

Recommendation 6-2: Advance research focused on populations at risk of developing ALS.

Research funders should partner with drug developers and the ALS community to advance research focused on populations at risk of developing ALS, including at-risk genetic carriers. Research funders should partner with drug developers and the ALS community to develop specific research programs focused on the unique unmet needs of at-risk genetic carriers. Research funders should support large-scale, prospective natural history studies of populations at risk of ALS.

The committee finds that each of these recommendations, if implemented, would yield significant improvements in the livability of ALS today and well into the future.

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