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napa

NAPA: Public Comments on Advisory Council Meeting October 2021

List of Comments

Comments and questions, or alerts to broken links, should be sent to napa@hhs.gov.

PLEASE NOTE: The Public Comments included here are not an endorsement of the views or information by National Alzheimer's Project Act, its Advisory Council members, the Administration or the federal agencies involved in this project.

 

G. Vradenburg | 10-31-2021

Thank you for this opportunity to speak to this Council.

On behalf of UsAgainstAlzheimer’s, I want to take this opportunity to urge the Federal members of this Council to actively and strongly support the unanimous recommendation of your non-federal members that a 6th goal to Reduce the Burden of Risk Factors for Alzheimer’s Disease and Related Dementias be added to the National Plan.

When the Plan was developed ten years ago, it set this nation on a course to prevent and effectively treat Alzheimer’s and Related Dementias by 2025. As a member of the inaugural Advisory Council, I can testify that we expected that the strategies to achieve that goal would evolve as new science and technologies emerged, as they have in the field of risk reduction science.

An aggressive 15% per decade reduction in key risk factors could result in as many as 1.2 million fewer people with Alzheimer’s in 2050. This estimate is rooted in scientific advances reported by the Lancet Commission and other researchers.

There is broad consensus on the need for this recommendation. Hundreds of groups support the proposed risk reduction goal--UsAgainstAlzheimer’s, the Alzheimer’s Association, the Heart Association, the Southern Leadership Conference, the YMCA, AARP, UnidosUS, the Milken Institute, the list goes on. TEN years ago an international group of scientists recommended we do this. And yet, some still say, not yet, we need more time.

Hear this: now is the time to act--families are waiting for action. Do not let the perfect be the enemy of the good, particularly for those who are at greatest risk--communities of color, women and low income populations.

D. Egan | 10-29-2021

I am pleased to talk about the importance of medical care for individuals with Down syndrome. We need dedicated focus on the health of individuals like me--from research to diagnosis, medical care, and preventive measures --to ensure that we have a healthy and fulfilling life.  

I am a Star Trek fan, and I agree with Officer Spock who says: “Live Long and Prosper.” But it is not enough to live long. The quality of our lives matters. So I urge you to see us as individuals that matter and make sure Down syndrome is fully included in studies, clinical trials, and treatment.  

As you may know, 90% of us will experience Alzheimer’s disease. 

In 2021, Down syndrome cannot be ignored, and our human rights must be included in NAPA planning and actions, just like everyone else in the population.  

In fact, the Trisomy 21 gene may be the secret to understanding Alzheimer’s. So focusing on our condition, and taking care of us, is also taking care of All of us with and without Down syndrome.  

Please include us in your plans. We do matter, and we could be the ones contributing to earth shattering discoveries.  

Thank you for giving me the opportunity to share my perspective as an individual with Down syndrome.

S. Lock | 10-28-2021

I am Sarah Lenz Lock, Senior Vice President for Policy and Brain Health at AARP.  I appreciate the opportunity to provide public comments at the Advisory Council on Alzheimer’s Research, Care and Services Meeting on October 25, 2021.  

Thank you to the NAPA Advisory Council for recommending the National Plan be updated to include a 6th goal to reduce the burden of risk factors for Alzheimer’s Disease and other related dementias.  AARP urges that this goal be adopted and that each of the members of the Council support it.  We hope that the Secretary of Health and Human Services includes this important goal in the plan update this year so that all our federal agencies can collaborate on implementing the strategies likely to reduce risks for dementia for all Americans.  I share my written comments more fully below.  

One of society’s greatest achievements has been growing global life expectancies.  Over the last 100 years, the average global life expectancy has more than doubled, with a 25 year gain in longevity in the United States.1  Our global longevity is a triumph of public health and medical advances.  But longevity has also caused concerns.  Increasing age is the single greatest non-modifiable risk factor for dementia.  Dementia is set to sky rocket as our population ages, going from about 6 million people in the U.S. 2020 living with dementia to 14 million in 2050. 2  While the prevalence, and attendant challenges and costs of caring for loved ones with dementia are going up, the number of potential caregivers and resources available to help are going down due to declining birth rates.  

In AARP’s 2015 nationally representative survey of adults 40+, 98% of adults said that maintaining and improving brain health was important, but only about half were participating in activities known to protect cognitive health.3  People reported they rarely engaged in sustained brain-healthy behaviors, the biggest barrier being not knowing what would actually benefit their brain.  Consequently, AARP launched the Global Council on Brain Health (GCBH)4 to identify whether there were modifiable lifestyle factors that might reduce risks of cognitive decline and dementia as adults aged.  Six years later, we can confidently say cognitive decline is NOT inevitable as we age and that we can reduce risks to brain health through modifiable lifestyle interventions. 

In the last 10 years, neuroscience has made giant leaps forward in understanding what can help people build cognitive reserve/resilience.  During that same period, we have come to better understand that the social determinants of health control the likelihood of healthy aging and maintaining brain health as much--if not more than--your genetics do.  The science shows us that there are modifiable lifestyle factors that can reduce risks for cognitive decline at the population level by up to 40%,5 and there are strategies to help people reduce their risks to their brain health at any age. 

The GCBH has now issued 10 reports on modifiable lifestyle factors providing scores of recommendations and practical tips on how individuals can reduce risks to their brain health across their lifespans.  But maintaining brain health is not simply a matter of personal choice.  The GCBH’s eleventh and latest report on COVID-19 vividly demonstrates how society influences our personal states of health.  The social determinants of health can often limit people’s individual abilities to adopt and maintain healthy habits.  The geographic, economic and cultural environments that we live in can make healthy lifestyle choices difficult to make or sometimes even impossible. These same social determinants of health are responsible for the health disparities in dementia rates we see in the U.S where Black Americans have dementia at 2 times and Latino Americans have dementia at 1.5 times the rate as White Americans.

We have seen that we have been able to achieve declines in the rates of dementia for some groups of people in Europe and North America.6  We should seize opportunities to support policies such as expanded educational attainment, and reduction in cardiovascular disease burdens due to greater exercise, healthy eating, and statin use that can reduce the incidence of cognitive decline and/or delay onset of dementia for all groups.7  Delaying dementia onset by 5 years can cut the expected incidence rate in half.8  The National Advisory Committee’s Risk Reduction Subcommittee’s recommendations to reduce the prevalence of unhealthy alcohol use, depression, diabetes, hearing loss, mid-life hypertension, physical inactivity, poor diet quality and obesity, poor sleep quality and sleep disorders, tobacco use, and traumatic brain injury will not only help reduce risks for the incidence of dementia at the population level, but will also help to build health care equity among groups disproportionately impacted by cognitive decline such as women, African Americans and Latino Americans. 

Knowing and sharing that cognitive decline is not an inevitable part of aging are our first steps towards achieving healthier brains.  Implementing these risk reduction strategies could help millions of Americans avoid or delay onset of dementia improving their quality of life and benefitting their families, communities and society as a whole.9  AARP is doing its part of trying to inspire individuals to improve their brain health across their lifespan through our initiatives like the Global Council on Brain Health and Staying Sharp, a digital platform providing information and inspiration to help people take charge of their brain health. But there is no substitute for concerted federal action. Adopting this federal goal will support public health enabling communities, health care systems, state and local governments and the private sector to create environments in which people can maximize their opportunities for better brain health. 

That is why AARP urges the Secretary to accept the unanimous recommendation of the National Advisory Council.  Adding a risk reduction goal to our National Plan to address Alzheimer’s Disease and Related Dementias will galvanize our federal agencies to help us implement strategies to support healthy aging and better brain health likely to result in fewer cases of dementia and improved quality of life for older Americans and their families.

Thank you, and I look forward to continuing to work with the members of NAPA Advisory Council as AARP strives to spark a lifetime of healthier brains and to disrupt dementia.

References:

  1. 1.Max Roser, Esteban Ortiz-Ospina and Hannah Ritchie (2013) "Life Expectancy". Published online at OurWorldInData.org. Retrieved from: https://ourworldindata.org/life-expectancy [Online Resource]. Schanzenbach, D.W, et al. The Changing Landscape of American Life Expectancy (June 2016) available at https://www.hamiltonproject.org/assets/files/changing_landscape_american_life_expectancy.pdf. One of tragedies of the ongoing pandemic has been to reduce life expectancy.  Estimates in the U.S. of a loss of 1 to 2 years of life expectancy in 2020 reverse a decade of gains, with a disproportionate impact on the Black and Latino populations. https://www.pnas.org/content/118/5/e2014746118. This loss has been attributed to both the direct and indirect effects of COVID-19 in 2020. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0256835. However, most demographers assume that we will eventually get COVID under control, and that life expectancy across the world will rebound and even increase in the future. https://www.uclahealth.org/news/tracking-how-covid19-is-changing-life-expectancy.
  2. US Census Bureau data, published online by Statista: https://www.statista.com/statistics/216624/projected-numbers-of-alzheimers-sufferers-aged-65-and-over-in-the-us/.
  3. Skufca, Laura. 2015 Survey on Brain Health. Washington, DC: AARP Research, October 2015. doi.org/10.26419/res.00114.001.
  4. See https://www.globalcouncilonbrainhealth.org/.
  5. The Centers for Disease Control cites the Lancet Commission on dementia prevention, intervention and care 2020 study that suggests that addressing modifiable risk factors may prevent or delay up to 40% of dementia cases. https://www.cdc.gov/aging/publications/features/dementia-not-normal-aging.html. See https://www.sciencedirect.com/science/article/abs/pii/S0140673620303676?via%3Dihub.
  6. See Walters, F.J et al., Twenty-seven-year time trends in dementia incidence in Europe and the United States, Neurology Aug. 4, 2020 finding a 13% decline in incidence rate of dementia per decade over the past 25 years between 1988 and 2015 consistent across studies.  https://n.neurology.org/content/95/5/e519.
  7. EClipsSE Collaborative Members, Brayne C, Ince PG, et al. Education, the brain and dementia: neuroprotection or compensation? Brain 2010;133:2210-2216.  doi:10.1093/brain/awq185. Available https://academic.oup.com/brain/article/133/8/2210/395786.
  8. Wilson, D. et al. (2011). Latest Advances on Interventions that May Prevent, Delay or Ameliorate Dementia. Therapeutic advances in chronic disease, 2(3), 161-173. doi:10.1177/2040622310397636. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513883/.
  9. Along with AARP and others, the World Economic Forum has recognized that if the additional years to life are healthy ones, expanded longevity offers significant economic benefits.  An increased longevity enables society to benefit from the unique skills, social capital knowledge and experience of older people.  At the same time, we can expand participation of the older working population in the economy, increase productivity and reduce health care burdens.

W. Mobley | 10-26-2021

I am a Neurologist and Associate Dean for Neuroscience Initiatives at the University of California, San Diego’s School of Medicine and the Director of the Down Syndrome Center for Research and Treatment at the University. I am also the Chair of the National Down Syndrome Society’s Scientific and Clinical Advisory Board. 

My expertise is in diagnosing and guiding care for adults who have Down syndrome and who show signs of Alzheimer's disease or other neuro-developmental conditions.  My comments related to several primary issues within the field of study of Down syndrome and Alzheimer’s disease, the need to include them in clinical trials for treatment of the disease, and the need for adults with down syndrome to achieve healthcare equity.

What do we know?

  • We know that adults with Down syndrome are at markedly increased risk for Alzheimer disease (AD). We also know that the brain pathology of AD is present in virtually all adults with Down syndrome by age 40, and that the average age at dementia diagnosis is 56.

How do we explain this?  

  • In people with Down syndrome, there is an extra copy of the gene for the amyloid precursor protein (APP) that is the basis for Alzheimer’s disease to occur. This APP gene is present on chromosome 21. Because people with DS have three copies of chromosome 21, they have three copies of the APP gene compared to the normal 2 copies that everyone else has.  

Why is this relevant to research in Alzheimer’s disease?

  • Research studies point to many shared clinical features between adults with Down syndrome who are living with Alzheimer’s disease and adults with Alzheimer’s in the general population. 
  • Additional studies are important to tell us exactly how an extra copy of the APP causes Alzheimer’s. We know that research evidence supports what we call the “amyloid hypothesis for Alzheimer’s”, and that the Aβ peptide product of APP is present in the brain and almost certainly contributes to the disease. 
  • However, it is not clear that Aβ is the only APP product involved as in DS, Alzheimer’s disease emerges in the context of other overexpressed chromosome 21 genes. Accordingly, we need a clearer picture as to whether and how those genes contribute. 

What are we learning?

  • Research, much of it funded by NIA/NIH, is providing us with three insights regarding a role for adults with Down syndrome and our understanding and treating to prevent Alzheimer’s disease. 
    • The first is given that an increase in the number of APP genes is necessary for AD in DS, a rational approach to preventing AD-DS would target reducing to normal the levels of the products of APP (i.e., to decrease the effective level of APP to normal). Targeting translation of the messenger RNA for APP, the levels of its products, the levels of toxic Aβ peptides, or an immune based approach are all possible. 
    • The second is that people with Down syndrome constitute a segment of our population who could benefit greatly from and contribute to disease-modifying treatment trials. Given their increased risk for Alzheimer’s and relative homogeneity with respect to the general population, the numbers of potential volunteers who could participate, and the realization that they often can readily participate in clinical trials, would be immensely helpful to finding beneficial treatments. 
    • The third is that as we learn more about efficacious pharmacological treatments, adults with Down syndrome need equity in accessing such medications, including their affordability and provision in settings consistent with their possible intolerance of infusion and MRI sites.

Why are we concerned about this?

  • We are concerned about the general wellbeing of adults with Down syndrome and improving the chances of mitigating their developing Alzheimer’s disease.  
  • We are also encouraged that their participation in research can play an important role in discovering treatments for Alzheimer’s.
  • We are also concerned that their access to medical care delivered by practitioners equipped with knowledge of Down syndrome is sorely lacking. 
    • A survey we recently undertook found that only about 3% of adults with Down syndrome receive care by expert clinicians. Adults with Down syndrome deserve the same level of care as all Americans.

In closing… 

I urge the Council to appreciate the current need for continued research--which hopefully will lead to the discovery of ways to prevent the onset of Alzheimer’s disease in adults with Down syndrome, promote equity in access to current and pending treatments, and promote care policies that will enhance access to general medical and health care as adults grow older in better health and which will mitigate ensuing neuropathologies.

K. Pickard | 10-26-2021

Hello. I am the President & CEO of the National Down Syndrome Society--the leading human rights organization for all individuals with Down syndrome--and the mother of a nine-year-old child with Down syndrome. 

On behalf of NDSS, I want to thank you for the opportunity to speak to you today about why it’s critical for this council to address the needs of the Down syndrome community and to recommend actions you can take.

Together with LuMind IDSC and the National Task Group on Intellectual Disabilities and Dementia Practices, NDSS has submitted a letter to this body outlining these issues in greater detail. This letter can be viewed by the public in the Newsroom section of our website at ndss.org.

In short, I’m here today because the vast majority of individuals with Down syndrome will eventually develop Alzheimer’s disease. The estimated lifetime risk of Alzheimer’s disease for people with Down syndrome exceeds 90% and is the leading cause of death for those adults. People with Down syndrome represent the single largest group with early onset dementia due to Alzheimer’s disease. 

We urge the Advisory Council to establish a special subcommittee to focus on how HHS can improve the diagnostic and clinical supports available to individuals with Intellectual and Developmental Disabilities, including Down syndrome.

While our community stands apart in its urgent need for your support, it is our belief that the subcommittee’s efforts would benefit the entire intellectual and developmental disability community. 

In our letter, we also highlight five critical areas where the Advisory Council must provide support:

  • Access to Adequate Clinical Care,
  • Increased Support for Research for Down Syndrome-Associated Alzheimer’s Disease,
  • Access to New Treatments,
  • Inclusion of Individuals with Down Syndrome in Clinical Trials, and
  • Access to Long-Term Services and Supports.

I want to thank the Advisory Council again for the opportunity to comment on the critical intersection of Down syndrome and Alzheimer’s disease today and how the special subcommittee could make a real difference for our community. We are eager to work with you to promote positive outcomes for our loved ones and stand ready to provide support however we can. 

E. Kane | 10-26-2021

Good afternoon. I am the Director of Support and Education with the Association for Frontotemporal Degeneration. Thank you for this opportunity to offer input from the perspective of FTD one of the "related dementias".

AFTD strongly supports recommendations to strengthen the long-term services and supports for the direct care workforce and suggest the needs of those with young onset dementias such as FTD require consideration in planning for the strengthening of the dementia care workforce. As a registered nurse who has spent a majority of my career in long term care I commend the council for making this a priority. The current staffing shortage has a negative effect on providing person centered care this is especially evident in the needs of those with FTD. Most individuals living with FTD who are moving to long-term care are in the moderate or advanced stages of their illness. Typically, they have symptoms of both behavior- and language-variant FTD. These symptoms are often more challenging for staff to understand than those of Alzheimer’s disease (AD). Comprehensive dementia training for direct care workers should focus on all “related dementias” to strengthen their ability to offer person centered care. 

In addition, families of those diagnosed with FTD often struggle with finding adequate placement for their loved ones diagnosed with FTD. In the paper on the social and economic burden of frontotemporal degeneration it was found that most care options are not designed with the needs of those with young onset dementias leading to gaps in services offered. FTD is associated with substantial direct and indirect costs, diminished quality of life, and increased caregiver burden. Most patients with FTD are working age, and most patients have to leave the labor force during their peak earning years. Caregivers of patients with FTD may also need to alter their careers to provide care. Combined, these factors contribute to a substantial decrease in household income and an increased need for care services. AFTD strongly suggest that consideration be given to young onset dementias in strengthening the dementia workforce.

Thank you for allowing me to comment today.

Notes:

  1. Galvin, J. E., Howard, D. H., Denny, S. S., Dickinson, S., & Tatton, N. (2017). The social and economic burden of frontotemporal degeneration. Neurology, 89(20), 2049-2056.

M. Sharp | 10-26-2021

I am the Advocacy Manager for the Association for Frontotemporal Degeneration, or FTD one of the “related dementias”.

I appreciate Dr. Sperling’s acknowledgement of the focus on Alzheimer’s Disease in the NASEM workshop, “Behavioral and Social Research and Clinical Practice Implications of Biomarkers and Other Preclinical Diagnostics of Alzheimer's Disease (AD) and AD-Related Dementias” (AD/ADRD). The is often the case, but too often goes unacknowledged. I would also like to describe some of the unique aspects of FTD that contribute to the impact of FTD in pre-clinical diagnosis in FTD. Understanding the implications of pre-clinical diagnosis is FTD is challenging but critically important to the FTD community. Pre-clinical diagnosis has the potential to fundamentally transform access to quality care and research.

Pre-clinical diagnosis will allow individuals to more actively participate in planning for the future and allow families to make informed choices about care and participating in research. Currently there are few clinical research opportunities available in FTD and families often will need to travel and spend days away from home in order to participate. Clinical research may also require people with FTD to undergo invasive and uncomfortable procedures that provide them with no immediate benefit. Both these challenges are made worse by the behavioral and cognitive symptoms of FTD.

There are also more opportunities to participate in clinical research on genetic treatments and therapies for FTD. Access to these trials requires genetic testing which has huge, multi-generational implications for individuals and families. Because of the increased interest from pharmaceutical companies in the potential of genetic therapies and treatments there is now more access to genetic testing for FTD than ever before. This testing was previous only available through medical research where careful consideration to the implications of knowing one’s genetic status could be paid. Accessing genetic information as a ticket to clinical research has a host of potential consequences that need careful consideration.

The early age of onset in FTD presents a variety of challenges related to employment, health and life insurance, financial planning and raising children, that are much less common in other neurodegenerative diseases like Alzheimer’s. It also presents different obstacles to accessing benefits and services than those faced by people with dementia who are older than 65. Receiving a neurodegenerative diagnosis prior to reaching retirement age also carries a stigma that is very different than the stigma associated with cognitive changes and dementia in an older demographic. How a pre-clinical diagnosis may affect families ability to plan for these obstacles and anticipate the stigma that may come with the cognitive changes of FTD is unclear--though it is hard to see how it would make the experience much worse than it currently is for many people with FTD and their families. We know that these factors have a huge effect on the impact of FTD on individuals, families, and communities but we still know too little about what the social and behavioral implication of a pre-clinical FTD diagnosis may be. AFTD encourages more work be done on the implications of pre-clinical diagnosis that includes FTD and other non-Alzheimer’s dementia.

C. Krebs | 10-25-2021

On behalf of the Physicians Committee for Responsible Medicine, a nonprofit health advocacy organization based in Washington, D.C. representing over 17,000 physician members, thank you for the opportunity to comment during today’s meeting. We were encouraged to see, during the July 2021 NAPA meeting, the Council adopt recommendations from the Research Subcommittee1 related to diversity and inclusiveness and strategy and infrastructure for research data and samples (recommendations 4 and 5, respectively).

We agree that strategy and infrastructure related to research data and samples will be critical in advancing our understanding of Alzheimer’s Disease and Alzheimer’s Disease Related Dementias (AD/ADRD) and in developing improved technologies for early detection, drug discovery, and safety and efficacy testing. However, agencies must recognize that the massive failure of Alzheimer’s drugs in clinical trials is in part due to insufficient resources put toward nonanimal, human-specific preclinical approaches, which include tissue chips and organoids derived from human cells and approaches utilizing human data. These approaches can better replicate human physiology and disease characteristics, overcoming species differences that make the use of animals for preclinical testing unreliable (e.g.2). Furthermore, the use of diverse, representative samples in such human-specific approaches improves the generalizability of results to all populations in a way that is impossible with animals.3,4 Therefore, to overcome the translational barriers plaguing AD/ADRD research, agencies must continue to shift resources from animal experimental systems toward approaches that utilize representative and diverse human cells, tissues, and data.

As a part of the shift toward human-specific preclinical research, there must be an accompanied investment in filling gaps in the availability of data and samples from more representative and diverse populations. As the council is aware, research that is not diverse and inclusive risks informing medical interventions that at best ignore health disparities and at worst exacerbate them.4-6 However, community engagement must not be pushed aside in the name of inclusivity but rather must form the foundation for building trust and fostering collaborative, reciprocal, and culturally competent partnerships among researchers and community members.7,8

For these reasons, we emphatically agree with the recommendations from the Research Subcommittee to enhance diversity and inclusiveness and to develop strategy and infrastructure to increase access to and utilization of research data and samples, but present the following updates to these recommendations to strengthen the path forward:

  1. Federal agencies should develop a strategy and infrastructure to increase the ethical and open sharing of, access to, and utilization of human research data and samples specifically derived from patients, human subjects, and post-mortem human donors.
  2. The NIH should immediately identify gaps in tissue availability for research, with a priority focus on gaps related to representation from diverse donors. These gaps should be reviewed and accordingly, a draft proposal to fill these gaps by improving, reworking, or building new infrastructure at NIH-supported tissue repositories should be presented at the next NIH AD/ADRD Research Summit.
  3. Federal and non-governmental agencies, academia, service providers, and community partners should prioritize efforts to scale up reciprocal community engagement in order to enhance diversity and inclusiveness in infrastructure for human research data and samples. These efforts should be explicitly laid out in strategic plans and should be included in the next annual Professional Judgement Budget.

To improve health outcomes for the entire dementia community and in particular for communities that are disproportionately impacted by AD/ADRD, we urge Health and Human Services and the National Institutes of Health to begin implementing programs, funding opportunities, and policies in support of these recommendations immediately.

References

  1. Advisory Council on Alzheimer’s Research, Care, and Services. July 2021 NAPA Advisory Council Meeting Subcommittee Recommendations. Published online July 2021. Accessed October 19, 2021. https://aspe.hhs.gov/sites/default/files/2021-07/Mtg41-Slides7-Comm-Recom.pdf. 
  2. Chen X, Sun G, Tian E, et al. Modeling Sporadic Alzheimer’s Disease in Human Brain Organoids under Serum Exposure. Adv Sci. 2021;8(18):2101462. doi:10.1002/advs.202101462.
  3. Thomas PL, Madubata CJ, Aldrich MC, et al. A Call to Action: Dismantling Racial Injustices in Preclinical Research and Clinical Care of Black Patients Living with Small Cell Lung Cancer. Cancer Discov. 2021;11(2):240-244. doi:10.1158/2159-8290.CD-20-1592.
  4. Zaaijer S, Capes-Davis A. Ancestry matters: Building inclusivity into preclinical study design. Cell. 2021;184(10):2525-2531. doi:10.1016/j.cell.2021.03.041.
  5. Alvidrez J, Castille D, Laude-Sharp M, Rosario A, Tabor D. The National Institute on Minority Health and Health Disparities Research Framework. Am J Public Health. 2019;109(S1):S16-S20. doi:10.2105/AJPH.2018.304883.
  6. Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019;51(4):584-591. doi:10.1038/s41588-019-0379-x.
  7. Gilmore-Bykovskyi A, Croff R, Glover CM, et al. Traversing the Aging Research and Health Equity Divide: Toward Intersectional Frameworks of Research Justice and Participation. Gerontologist. 2021;(gnab107). doi:10.1093/geront/gnab107.
  8. Claw KG, Anderson MZ, Begay RL, Tsosie KS, Fox K, Garrison NA. A framework for enhancing ethical genomic research with Indigenous communities. Nat Commun. 2018;9(1):2957. doi:10.1038/s41467-018-05188-3.

NDSS | 10-19-2021

The National Down Syndrome Society (NDSS), in partnership with the LuMind IDSC Foundation and the National Task Group on Intellectual Disabilities and Dementia Practices (NTG), is submitting this letter to the Advisory Council on Alzheimer’s Research, Care, and Services (the Advisory Council), urging the Advisory Council to take action to address the needs the Down syndrome community, consistent with its charge under the National Alzheimer’s Project Act (P.L. 111-375). NDSS is the leading human rights organization for all individuals with Down syndrome. NDSS envisions a world in which all people with Down syndrome have the opportunity to enhance their quality of life, realize their life aspirations, and become valued members of welcoming communities.

The estimated lifetime risk of Alzheimer’s disease for people with Down syndrome exceeds 90%1 and is the leading cause of death for those adults.2  People with Down syndrome represent the single largest group with early onset dementia due to Alzheimer’s disease; the median age for a diagnosis of Alzheimer’s related dementia in this group is approximately 55 years of age.3  It is imperative, therefore, that all causal research and treatment studies for Alzheimer’s disease include people with Down syndrome.

To advance this effort, we have joined together to thank the Advisory Council for including Down syndrome in its annual plan recommendations issued per the National Alzheimer’s Project Act and to recommend further action: we urge the Advisory Council to establish a special subcommittee to focus on how HHS can improve the diagnostic and clinical supports available to adults with Down syndrome and other intellectual and developmental disabilities. While the Down syndrome community stands apart in its urgent need for this work, it is our belief that the subcommittee’s efforts would benefit the entire intellectual and developmental disability community.

We wish to highlight five specific areas where the intellectual and developmental disability community--and specifically the Down syndrome community--needs the support of the Advisory Council. We ask the Advisory Council to recommend that HHS take the following actions:

Access to Adequate Clinical Care
Fund opportunities for the education of clinicians, inclusive of both students and practitioners, make substantive recommendations for training curricula, and create resources for technical assistance. Correctly diagnosing Alzheimer’s disease in an individual with Down syndrome requires a specialized knowledge of this population, and there is a dearth of clinicians who have the requisite skills, knowledge, and experience. It is estimated that specialty Down syndrome clinics currently meet the needs of only 5% of the population.4  Even when a person with Down syndrome is properly diagnosed with Alzheimer’s disease, there is a systemic lack of inclusive treatment options and care protocols for managing dementia. To address these needs, we also ask that HHS support the identification and enhancement of existing and potential clinics and diagnostic resources that serve our community.

Increased Support for Research for Down Syndrome Associated Alzheimer’s Disease:
Improve the body of research focused on the intersection of and relationship between Down syndrome and Alzheimer’s disease. In order to effectuate this change, we recommend increased coordination between the Advisory Council’s annual plan and the NIH Down Syndrome Research Plan. While there have been notable increases in NIH biomarker and biomedical research, there are not enough funded studies focused on health outcomes, diagnostics, or social research, including caregiver impact. Better coordination between the NIH Down Syndrome Research Plan and the NAPA Advisory Council Plan’s annual plan, with more attention directed towards areas of research currently un or under-realized, will dramatically improve the likelihood that individuals with Down syndrome and their families can reach the best possible outcome after an Alzheimer’s diagnosis.

Access to New Alzheimer’s Treatments
Collaborate with CMS to promote the affordability of new Alzheimer’s therapies for individuals with Down syndrome. Insurance coverage of treatments is a key lever in helping individuals with Down syndrome receive adequate care. In its administration of Medicare and Medicaid, CMS sets a market standard that other insurers follow, so as new treatments for Alzheimer’s disease continue to be developed, it is critical that CMS ensure that its policies do not limit physicians’ capacity to make individualized assessment, diagnosis, and treatment plans that take persons with intellectual and developmental disabilities into account. Because of the Advisory Council’s ability to highlight the needs of this community--and especially those with Down syndrome--and because of its constituent membership, the Advisory Council is uniquely positioned to ensure that inability to pay should not be an impediment to treatment.

Inclusion of Individuals with Down Syndrome in Clinical Trials
Work to ensure that individuals with Down syndrome are included in current and future clinical trials, either through regulation or subregulatory guidance, as appropriate. Clinical trials lead to new treatments. By excluding people with Down syndrome from trials, investigators are systematically excluding them from clinical care that can markedly improve their quality of life. At the same time, the Down syndrome community is put at risk for adverse reactions to treatments for Alzheimer’s that are developed in their absence and may prove inappropriate. A recent example of this problematic practice is Biogen’s ongoing trials for aducanumab, a new treatment of early-stage Alzheimer’s related dementia. Despite the treatment’s promise for adults with Alzheimer’s dementia in the general population, because atypical adults were (and remain) omitted from the trials, even Biogen itself has advised against the off-label use of the medication for adults with Down syndrome. Furthermore, an expert panel has concluded that the use of aducanumab in adults with Down syndrome is inappropriate.5

Access to Long-Term Services and Supports
Promote processes to ensure that health care providers in congregate care settings serving individuals with Down syndrome are trained in memory care; likewise, work to ensure that providers in dedicated memory care settings are trained in the care of individuals with Down syndrome and other intellectual and developmental disabilities. The need for alternatives to long-term family-based care has become more acute because the life expectancy of individuals with Down syndrome has increased dramatically over the past few decades, spotlighting the diminishing capacity of family members who themselves are aging. Individuals with Down syndrome transitioning into congregate settings must have access to professionals who possess specialized expertise. Most memory care clinicians lack the specific training needed to care for individuals with Down syndrome adequately, and most clinicians who care for individuals with Down syndrome are unfamiliar with how to provide memory care. Without alternatives, such as small dementia care group homes, supported apartments, or in-home supports, families will continue to bear the responsibility of providing life-long direct care for their loved ones with Down syndrome living with Alzheimer’s disease--all while they themselves face the difficulties of aging.

We thank the Advisory Council for the opportunity to comment on the critical intersection between Down syndrome and Alzheimer’s disease and to share our recommendations for addressing the needs of the community. The National Down Syndrome Society and its partners are eager to work with the Advisory Council to promote positive outcomes for all individuals with intellectual and developmental disabilities.

References

  1. McCarron, M.; McCallion, P.; Reilly, E.; Dunne, P.; Carroll, R.; Mulryan, N. A prospective 20-year longitudinal follow-up of dementia in persons with Down syndrome. J Intellect Disabil Res. 2017, 61(9), 843-852.
  2. Hithersay, R.; Startin, C.M.; Hamburg, S.; Mok, K.Y.; Hardy, J.; Fisher, E.M.C.; Tybulewicz, V.L.J.; Nizetic, D.; Strydom, A. Association of dementia with mortality among adults with Down syndrome older than 35 years. JAMA Neurol. 2019, 76(2), 152-160.
  3. Sinai, A.; Mokrysz, C.; Bernal, J.; Bohnen, I.; Bonell, S.; Courtenay, K.; Dodd, K.; Gazizova, D.; Hassiotis, A.; Hillier, R.; McBrien, J.; McCarthy, J.; Mukherji, K.; Naeem, A.; Perez-Achiaga, N.; Rantell, K.; Sharma, V.; Thomas, D.; Walker, Z.; Whitham, S.; Strydom, A. Predictors of age of diagnosis and survival of  Alzheimer's disease in Down syndrome. J Alzheimers Dis. 2018, 61(2), 717-728
  4. Santoro SL, Campbell A, Balasubramanian A, Haugen K, Schafer K, Mobley W. Specialty clinics for adults with Down syndrome: A clinic survey. Am J Med Genet A. 2021 Jun;185(6):1767-1775. doi: 10.1002/ajmg.a.62169. Epub 2021 Mar 17. PMID: 33729670.
  5. Cummings J, Aisen P, Apostolova LG, Atri A, Salloway S, Weiner M. Aducanumab: Appropriate use recommendations. J Prev Alzheimers Dis. 2021;8(4):398-410. doi: 10.14283/jpad.2021.41. PMID: 34585212.

About the National Down Syndrome Society:
The National Down Syndrome Society (NDSS) is the leading human rights organization for all individuals with Down syndrome. NDSS envisions a world in which all people with Down syndrome have the opportunity to enhance their quality of life, realize their life aspirations and become valued members of welcoming communities. Founded in 1979, NDSS supports and advocates for the Down syndrome community by focusing on three key areas of programming: Resources & Support, Policy & Advocacy and Community Engagement. Within these focus areas NDSS engages in various activities, events and programs to support individuals with Down syndrome, their families and caregivers across the lifespan. Visit www.ndss.org for more information about NDSS.

About the LuMind IDSC Foundation:
The LuMind IDSC Foundation (LuMind IDSC) envisions a world where every person with Down syndrome thrives with improved health, independence, and opportunities to reach his or her fullest potential. By facilitating translational research, LuMind IDSC accelerates the availability of therapeutic, diagnostic, and medical care options for people with Down syndrome while also providing responsive and reliable resources to a vibrant online community of 200,000 people with Down syndrome, their families, and caregivers. www.lumindidsc.org. 

About the NTG:
The ‘NTG’ is a not-for-profit organization charged with ensuring that the interests of adults with intellectual and developmental disabilities who are affected by Alzheimer’s disease and other causes of dementia--as well as their families and friends--are considered in research, public policy, and services development. The NTG's overall mission is to advocate for services and supports for people with intellectual disability and their families who are affected by Alzheimer's disease and dementias. https://www.the-ntg.org