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Public Comments from Advisory Council Meeting, July 2022

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.

L. Cohen 8-9-2022

Eli Lilly and Company (Lilly) believes that we are on the brink of meaningful change for people living with Alzheimer’s disease (AD). However, the potential benefits of amyloid plaque targeting monoclonal antibodies may only be realized when patients have timely and equitable access to both diagnostics and therapeutics.

A central goal of the National Alzheimer’s Project Act (NAPA) and the National Plan is to ensure that patients and their families have access to a timely and accurate diagnosis.i

We therefore applaud the Centers for Medicare and Medicaid Services (CMS)’ recent decision to open a reconsideration for the Amyloid Beta (Aβ) Positron Emission Tomography (PET) National Coverage Determination (NCD),ii which is nearly a decade old and which has not kept pace with clinical developments in AD treatment.

Currently, Medicare beneficiaries are limited to one Aβ PET scan per lifetime and must be enrolled in a clinical trial to receive access to these important diagnostics. We are encouraged that CMS’ stated basis for initiating reconsideration is to “determine if the current policy of one scan per patient per lifetime should be revised.”iii We strongly support eliminating the lifetime limit now that there are AD treatment options that are reliant on confirmatory Aβ PET scans.

While this reconsideration is timely, it will only be meaningful if CMS also reassesses the use of Coverage with Evidence Development (CED). The clinical evidence iv is clear and well-developed: Aβ PET scans have empirically and repeatedly demonstrated significant clinical utility by causing changed clinical management, changed patient diagnoses, and improved provider confidence. Accordingly, CMS should, as part of this reconsideration, remove CED so that Medicare beneficiaries are no longer forced to enroll in clinical trials as a condition for coverage.

Time is of the essence for patients living with Alzheimer’s disease. We therefore urge the Advisory Council to work with CMS to ensure that existing coverage policies allow for timely and equitable access to the diagnostic tools that are necessary to identify patients who could most benefit from these therapies or who could benefit from discontinuation from therapy.

NOTES:

  1. HHS, National Plan to Address Alzheimer’s Disease: 2021 Update. (Published 2021). Available at National Plan to Address Alzheimer's Disease: 2021 Update (hhs.gov).
  2. CMS, National Coverage Analysis (NCA), Tracking Sheet: Beta Amyloid Positron Emission Tomography in Dementia and Neurodegenerative Disease. (Published June 15, 2022). Available at https://www.cms.gov/medicarecoverage-database/view/ncacal-tracking-sheet.aspx?ncaid=308.
  3. Id.
  4. We have identified more than 30 relevant studies and summarized the relevant findings below:
    1. Association of Amyloid Positron Emission Tomography With Subsequent Change in Clinical Management Among Medicare Beneficiaries With Mild Cognitive Impairment or Dementia. The evidence development framework endorsed by CMS resulted in the Imaging Dementia–Evidence for Amyloid Scanning (IDEAS) Study and subsequent New IDEAS Study. The IDEAS study included 11,409 participants initially characterized as having mild cognitive impairment (MCI) or dementia of uncertain cause. Ninety days after Aβ PET, patient care plans changed (compared with the pre-PET plan) in 60.2% of patients initially characterized as having MCI and 63.5% of patients initially characterized as having dementia of unknown cause. Hence, Aβ PET was associated with substantial subsequent changes in the management of diagnostically challenging patient cognitive disorders. Rabinovici GD, Gatsonis C, Apgar C, et al. JAMA 2019;321:1286-94.
    2. Critical Review of the Appropriate Use Criteria for Amyloid Imaging: Effect on Diagnosis and Patient Care. “In conclusion, our case series suggests that amyloid imaging information frequently results in both diagnostic and treatment plan changes. At least in the hands of the dementia experts who took part in this study, it seems that the benefit for the early-onset group lies in confirming the presence of cortical amyloid consistent with a diagnosis of AD, which prompted the referral for the amyloid PET scan in the first place, whereas the benefit for the late-onset group lies in identifying amyloid-negative cases. In both groups, physicians made therapeutic changes in over two-thirds of the cases.” Apostolova LG, Haider JM, Goukasian N, et al. Alzheimers Dement (Amst). 2016;5:15-22. Published 2016 Dec 18. doi:10.10H2:H4616/j.dadm.2016.12.001.
    3. Clinical Utility of Amyloid PET Imaging in the Differential Diagnosis of Atypical Dementias and Its Impact on Caregivers. “Amyloid PET resulted in a diagnostic change in 9/28 cases (32.1%). There was a 44% increase in diagnostic confidence. Altered management occurred in 71.4% (20/28) of cases. Knowledge of amyloid status improved caregivers’ outcomes in all domains (anxiety, depression, disease perception, future anticipation, and quality of life).” Bensaïdane MR, Beauregard JM, Poulin S, et al. J Alzheimers Dis. 2016;52(4):1251-1262. doi:10.3233/JAD-151180.
    4. Assessment of the Incremental Diagnostic Value of Florbetapir F 18 Imaging in Patients With Cognitive Impairment: The Incremental Diagnostic Value of Amyloid PET With [18F]-Florbetapir (INDIA-FBP) Study. Concluding that “Amyloid PET in addition to routine assessment in patients with cognitive impairment has a significant effect on diagnosis, diagnostic confidence, and drug treatment” and finding that care plans (as defined by drug initiation or discontinuation) changed in 65.6% patients with positive scan results who had not previously received those drugs, and the use of the drugs was discontinued in 33.3% patients with negative scan results who were receiving those drugs (P < .001). Boccardi M, Altomare D, Ferrari C, et al. JAMA Neurol. 2016;73(12):1417-1424. doi:10.1001/jamaneurol.2016.375.
    5. Additive Value of Amyloid-PET in Routine Cases of Clinical Dementia Work-Up After FDG-PET. A study comparing diagnosis and care management between FDG PET and Aβ PET observed that when Aβ PET was used, the “most likely prior diagnosis was changed in 28% of cases. The highest impact was observed for distinguishing Alzheimer’s dementia (AD) from fronto-temporal dementia (FTLD), where [AB] PET altered the most likely diagnosis in 41% of cases.” The authors concluded the “differentiation between AD and Frontal Temporal Lobe Dementia was particularly facilitated by amyloid-PET, predicting a considerable impact on patient management, especially in the light of upcoming disease-modifying therapies.” Brendel M, Schnabel J, Schönecker S, et al. Eur J Nucl Med Mol Imaging. 2017;44(13):2239-2248. doi:10.1007/s00259-017-3832-z.
    6. Clinical Utility of Amyloid PET imaging with (18)F-florbetapir: A Retrospective Study of 100 Patients. A retrospective review of the first 100 patients who had amyloid PET imaging as part of clinical practice in a memory center in the United Kingdom. “Amyloid PET was primarily used to investigate patients with atypical clinical features (56 cases) or those that were young at onset (42 cases).” Amyloid PET “results could not reliably be predicted by pre-imaging investigations” including MRI and CSF. Amyloid PET “led to a change in diagnosis in 30 individuals” and “a change in management in 42 cases” most commonly, “the addition of memantine or an acetyl cholinesterase inhibitor (24 patients).” Carswell CJ, Win Z, Muckle K, et al. J Neurol Neurosurg Psychiatry. 2018;89(3):294-299. doi:10.1136/jnnp-2017-316194.
    7. Added Value of 18F-florbetaben Amyloid PET in the Diagnostic Workup of Most Complex Patients with Dementia in France: A Naturalistic Study. “PET results led to changed diagnosis and improved confidence in 66.8% and 81.5% of patients, respectively, and altered management in 80.0% of cases.” Ceccaldi M, Jonveaux T, Verger A, et al. Alzheimers Dement. 2018;14(3):293-305. doi:10.1016/j.jalz.2017.09.009.
    8. Atrophy, Hypometabolism and Clinical Trajectories in Patients with Amyloid-Negative Alzheimer's Disease. “After the amyloid scan, clinicians altered the diagnosis in 68% of amyloid-negative patients including 48% of amnestic versus 94% of non-amnestic and non-specific cases.” Chételat G, Ossenkoppele R, Villemagne VL, et al. Brain. 2016;139(Pt 9):2528-2539. doi:10.1093/brain/aww159.
    9. Association of Amyloid Positron Emission Tomography with Changes in Diagnosis and Patient Treatment in an Unselected Memory Clinic Cohort: The ABIDE Project. Observing that “the suspected etiology changed for 125 patients (25%) after undergoing amyloid PET” and that “in 123 patients (24%), there was a change in patient treatment post-PET, mostly related to additional investigations and therapy.” de Wilde A, van der Flier WM, Pelkmans W, et al. JAMA Neurol. 2018;75(9):1062-1070. doi:10.1001/jamaneurol.2018.1346.
    10. Re-Evaluation of Clinical Dementia Diagnoses with Pittsburgh Compound B Positron Emission Tomography. Observing in a small study that between FDG PET and a follow-up Aβ PET scan, “the initial clinical diagnoses were changed in one third of the patients (6 out of 18) during follow-up.” Degerman Gunnarsson M, Lindau M, Santillo AF, et al. Dement Geriatr Cogn Dis Extra. 2013;3(1):472-481.
    11. Added Diagnostic Value of (11)C-PiB-PET in Memory Clinic Patients with Uncertain Diagnosis. “A total of 57 patients (17 females, 30 males; age 65.7 years, range 44.2–82.6) were included in the study. Twenty-seven had a positive PiB-PET scan. At the first diagnostic evaluation, 16 patients were given a clinical Alzheimer's disease diagnosis (14 PiB positive). Of the 57 patients, 13 (23%) were diagnostically reclassified after PiB-PET ratings were disclosed. The clinicians’ overall confidence in their diagnosis increased in 28 (49%) patients.” Frederiksen KS, Hasselbalch SG, Hejl AM, Law I, Højgaard L, Waldemar G. Dement Geriatr Cogn Dis Extra. 2012;2(1):610-621. doi:10.1159/000345783.
    12. Potential Impact of Amyloid Imaging on Diagnosis and Intended Management in Patients with Progressive Cognitive Decline. “A total of 229 patients participated in the trial (113 amyloid positive, 116 amyloid negative). “After receiving the results of the florbetapir scan, diagnosis changed in 125/229, or 54.6% (95% confidence intervals (CI), 48.1%-60.9%), of cases, and diagnostic confidence increased by an average of 21.6% (95% CI, 18.3%-24.8%). A total of 199/229 or 86.9% (95% CI, 81.9%-90.7%) of cases had at least 1 change in their management plan.” Grundman M, Pontecorvo MJ, Salloway SP, et al. Alzheimer Dis Assoc Disord. 2013;27(1):4-15. doi:10.1097/WAD.0b013e318279d02a.
    13. Initial Physician Experience with [18F]Flutemetamol Amyloid PET Imaging Following Availability for Routine Clinical Use in Japan. “As part of a Japanese post-approval study to measure the safety of [18F]flutemetamol PET, the association of amyloid PET results with changes in diagnosis and diagnostic confidence was assessed.” “Amyloid PET imaging led to change in diagnosis in 15/44 clinical subjects (34%). Mean diagnostic confidence increased by approximately 20%, from 73% pre-scan to 93% post-scan.” Hattori N, et al. J Alzheimers Dis Rep. 2020.
    14. Amyloid Imaging for Differential Diagnosis of Dementia: Incremental Value Compared to Clinical Diagnosis and [18F]FDG PET. “After disclosure of the amyloid PET results, clinical and [18F]FDG PET diagnoses changed in 23% and 18% of patients, respectively, and agreement between both ratings increased from 62% to 86% (p < 0.001). The accuracy of clinical and [18F]FDG PET diagnoses improved from 71% to 89% (p < 0.01) and from 76% to 94% (p < 0.001), respectively.” Hellwig S, Frings L, Bormann T, Vach W, Buchert R, Meyer PT. Eur J Nucl Med Mol Imaging. 2019;46(2):312-323. doi:10.1007/s00259-018-4111-3.
    15. Utility of Amyloid and FDG-PET in Clinical Practice: Differences Between Secondary and Tertiary Care Memory Units. In a study comparing FDG PET and Aβ PET diagnoses, researchers observed that “the primary diagnosis changed after [AB] PET in 17.2% of cases.” Lage C, Suarez AG, Pozueta A, et al. J Alzheimers Dis. 2018;63(3):1025-1033. doi:10.3233/JAD-170985.
    16. Clinical Impact of [18F]flutemetamol PET Among Memory Clinic Patients with an Unclear Diagnosis. “[AB] PET led, overall, to a change in diagnosis in 92 of the 207 patients (44%). A high percentage of patients with a change in diagnosis was observed in the MCI group (n = 67, 51%) and in the dementia NOS group (n = 11; 55%), followed by the non-AD and AD (30% and 20%, respectively). A significant increase in cholinesterase inhibitor treatment was observed after [AB] PET (+218%, 34 patients before and 108 patients after).” Leuzy A, Savitcheva I, Chiotis K, et al. Eur J Nucl Med Mol Imaging. 2019;46(6):1276-1286. doi:10.1007/s00259-019-04297-5.
    17. A Consecutive Case Series Experience with [18 F] florbetapir PET Imaging in an Urban Dementia Center: Impact on Quality of Life, Decision Making, and Disposition. Concluding that “Amyloid imaging provided novel and essential data that: (1) caused diagnosis to be revised; and/or (2) prevented the initiation of incorrect or suboptimal treatment; and/or (3) avoided inappropriate referral to an anti-amyloid clinical trial.” Mitsis EM, Bender HA, Kostakoglu L, et al. Mol Neurodegener. 2014;9:10. Published 2014 Feb 3. doi:10.1186/1750-1326-9-10.
    18. Impact of Molecular Imaging on the Diagnostic Process in a Memory Clinic. “PET results led to a change in diagnosis in 35 (23%) patients. This only occurred when prior diagnostic certainty was <90%. Diagnostic confidence increased from 71 ± 17% before to 87 ± 16% after PET (p < 0.001).” Ossenkoppele R, Prins ND, Pijnenburg YA, et al. 2013;9(4):414-421. Alzheimers Dement. doi:10.1016/j.jalz.2012.07.003.
    19. Effectiveness of Florbetapir PET Imaging in Changing Patient Management. When Aβ PET scans provided “immediate feedback,” researchers found that for a “total of 618 subjects were randomized (1:1) to immediate or delayed feedback arms, and 602 subjects completed the 3-month primary endpoint visit. A higher proportion of patients in the immediate feedback arm showed a change in diagnosis compared to the controls (32.6 vs. 6.4%; p = 0.0001). Similarly, a higher proportion of patients receiving immediate feedback had a change in management plan (68 vs. 55.5%; p < 0.002), mainly driven by changes in AD medication. Specifically, acetylcholinesterase inhibitors were prescribed to 67% of the amyloid-positive and 27% of the amyloid-negative subjects in the information group compared with 56 and 43%, respectively, in the control group (p < 0.0001). Pontecorvo MJ, Siderowf A, Dubois B, et al. Dement Geriatr Cogn Disord. 2017;44(3-4):129-143. doi:10.1159/000478007.
    20. Incremental Value of Amyloid-PET Versus CSF in the Diagnosis of Alzheimer's Disease. “Among patients with a pre-biomarker diagnosis of AD, negative PET induced significantly more diagnostic changes than amyloid-negative CSF at both rounds 2 (CSF 67%, PET 100%, P = 0.028) and 3 (CSF 0%; PET 78%, P < 0.001); PET induced a diagnostic confidence increase significantly higher than CSF on both rounds 2 and 3.” Ramusino MC, Garibotto V, Bacchin R, et al. Eur J Nucl Med Mol Imaging. 2020;47(2):270-280. doi:10.1007/s00259-019-04466-6.
    21. Practical Utility of Amyloid and FDG-PET in an Academic Dementia Center. “The primary diagnosis changed after PET in 13/140 patients (9%) overall but in 5/13 (38%) patients considered pre-PET diagnostic dilemmas.” Sánchez-Juan P, Ghosh PM, Hagen J, et al. Neurology. 2014;82(3):230-238. doi:10.1212/WNL.0000000000000032.
    22. Impact of Beta-Amyloid-Specific florbetaben PET Imaging on Confidence in Early Diagnosis of Alzheimer’s Disease. “In 18% of patients who had initially received the diagnosis of probable AD, PET scans were rated negative, whereas in controls 18% of scans were positive. An increase in confidence in the initial diagnosis was frequently reported (80%). Imaging results had a significant impact on the intended patient care, as judged by the referring physicians; this was most prominent in those patients with a contradicting scan and/or a low confidence in the initial diagnosis.” Schipke CG, Peters O, Heuser I, et al. Published correction appears in Dement Geriatr Cogn Disord. 2012;34(3-4):262]. Dement Geriatr Cogn Disord. 2012;33(6):416-422. doi:10.1159/000339367.
    23. Amyloid-Positronenemissionstomographie mit [18 F]-Florbetaben in der Demenzdiagnostik [Amyloid Positron-Emission-Tomography with [18 F]-florbetaben in the Diagnostic Workup of Dementia Patients]. “Overall, in 7 out of 33 examined patients the initial diagnosis had to be changed because of the findings of the FBB-PET scan.” Schönecker S, Prix C, Raiser T, et al. Nervenarzt. 2017;88(2):156-161.
    24. Impact of (18)FDG PET and (11)C-PIB PET Brain Imaging on the Diagnosis of Alzheimer's Disease and Other Dementias in a Regional Memory Clinic in Hong Kong. Researchers found that “diagnosis was subsequently changed in 36.3% of subjects following PET.” Shea YF, Ha J, Lee SC, Chu LW. Hong Kong Med J. 2016;22(4):327-333. doi:10.12809/hkmj154707.
    25. Utility of Amyloid PET Scans in the Evaluation of Patients Presenting with Diverse Cognitive Complaints. The impact of amyloid PET imaging was studied in 102 patiets presenting at a memory clinic in Florida. Following Aβ-PET, changes were made in diagnosis (37.3%), in specific treatments for Alzheimer’s disease (26.5%) and in psychiatric treatments (25.5%). The agreement between diagnosis pre-Aβ-PET versus post-A_-PET diagnosis was only fair, with a Cohen’s kappa of 0.23 (95% CI 0-0.42). Shea YF, et al. J Alzheimers Dis. 2018.
    26. The Incremental Diagnostic Value of [18F] Florbetaben PET and the Pivotal Role of the Neuropsychological Assessment in Clinical Practice. “There were 69/104 (66%) [18F] Florbetaben positive scans, 51/62 (82%) patients were suspected as having AD before the PET scan and 18/42 (43%) were not. Overall, the data obtained at PET changed 18/104 diagnoses (17%) and increased diagnostic confidence from 69.1±8.1% to 83.5±9.1 (p < 0.001), with the greatest impact on diagnosis and confidence in PET negative patients with an initial diagnosis of AD (p < 0.01) and in early-onset patients (p = 0.01). Spallazzi M, Barocco F, Michelini G, et al. J Alzheimers Dis. 2019;67(4):1235-1244. doi:10.3233/JAD-180646.
    27. Impact of Amyloid-PET in Daily Clinical Management of Patients with Cognitive Impairment Fulfilling Appropriate Use Criteria. In a study designed to “evaluate the use of amyloid-positron emission tomography (PET) in routine clinical practice” researchers found “the therapeutic intention was modified in 93 patients (44.1%) [after using Aβ PET]” and found that provider confidence pre-scan and post-scan varied significantly. Triviño-Ibáñez EM, Sánchez-Vañó R, Sopena-Novales P, et al. Medicine (Baltimore). 2019;98(29).
    28. Added Value and Limitations of Amyloid-PET Imaging: Review and Analysis of Selected Cases of Mild Cognitive Impairment and Dementia. In a retrospetive review of 16 cases, this study reported a change in diagnosis in 11 cases and a change in AD treatment in 10. Weidman DA, Zamrini E, Sabbagh MN, et al. Neurocase. 2017;23(1):41-51. doi:10.1080/13554794.2017.1290806.
    29. Diagnosing Dementia in the Clinical Setting: Can Amyloid PET Provide Additional Value Over Cerebrospinal Fluid? “Twenty patients from a cognitive clinic, who had undergone detailed assessment including CSF measures, went on to have amyloid PET. The treating neurologist's working diagnosis, and degree of diagnostic certainty, was assessed both before and after the PET. Amyloid PET changed the diagnosis in 7/20 cases. Amyloid PET can provide added diagnostic value, particularly in young-onset, atypical dementias, where CSF results are borderline and diagnostic uncertainty remains.” Weston PS, Paterson RW, Dickson J, et al. J Alzheimers Dis. 2016;54(4):1297-1302. doi:10.3233/JAD-160302.
    30. Impact of 18F-florbetapir PET Imaging of β-amyloid Neuritic Plaque Density on Clinical Decision-Making. “We present 11 cases (age range 67-84) of cognitively impaired subjects in whom clinician surveys were done before and after PET scanning to document the theoretical impact of amyloid imaging on the diagnosis and treatment plan of cognitively impaired subjects. Subjects have been clinically followed for about 5 months after the PET scan. Negative scans occurred in five cases, leading to a change in diagnosis for four [of 11] patients and a change in treatment plan for two [of 11] of these cases. Positive scans occurred in six cases, leading to a change in diagnosis for four [of 11] patients and a change in treatment plan for three [of 11] of these cases.” Zannas AS, Doraiswamy PM, Shpanskaya KS, et al. Neurocase. 2014;20(4):466-473. doi:10.1080/13554794.2013.791867.
    31. Diagnostic Value of Amyloid Imaging in Early Onset Dementia. Amyloid PET scans resulted in diagnostic change in 20% of the amyloid-positive cases and physicians’ confidence in their clinical diagnosis increased from 76% to 90%. M.D. Zwan, F.H. Bouwman, W. VdF, A. Lammertsma, B. van Berckel, P. Scheltens. Alzheimers Dement. 10: 2014; 14.

B. Grems | 8-3-2022

Today I am speaking on behalf of the ALLFTD Participant and Family Engagement Board. ALLFTD is a comprehensive study targeting most varieties of frontotemporal lobar degeneration, also known as FTLD or FTD. I am a participant in the ALLFTD study, and my family has lost several loved ones too early from FTD including my amazing father.”

In 2019, ALLFTD was funded with a five-year grant through the NIH’s National Institute on Aging and National Institute of Neurological Disorders and Stroke to prepare the FTLD community for treatment trials in FTLD. At the time of funding, NIA Director, Dr. Richard Hodes, noted that “The discoveries made in FTLD could also help with finding treatments for other dementias such as Alzheimer’s disease.”

Our Engagement Board is made up of enrolled study participants and their caregivers. We are individuals whose lives have been touched by FTLD. As Board members, we can provide feedback on the ALLFTD research experience and advise on participant and family priorities. It is important that these priorities are known to ALLFTD study staff as well as the larger community of scientists, clinicians, funders, and policy makers because this is a young-onset dementia, robbing individuals and families of a future together while also bestowing a devastating financial burden to shoulder the cost of care.

Today we ask that NIH funding continue, not only for the ALLFTD study, but for FTLD and related dementia research in general. We also ask that expanded education is offered to healthcare professionals in many different settings about how to accurately diagnose FTLD. Many individuals living with FTLD experience one or more misdiagnoses because too often clinicians do not understand FTLD and related dementias well enough. This steals precious time during the early stage of the disease when individuals and families can connect with a community of support, participate in research and discuss values and wishes for future healthcare.

I would like to thank the NAPA Advisory Council for their continued advocacy for research, care and services for all dementias, building hope that the cure of tomorrow is not so far from the care of today. Our call to action is for continued funding from the NIH for the ALLFTD study beyond 2024 and for expanded research funding for young-onset, rare, atypical and related dementias.

C. Woodward | 7-27-2022

I am an adult White woman with brown hair sitting in front of a white wall. I work at the National Down Syndrome Society as the Community Outreach Associate. NDSS is the leading human rights organization for all individuals with Down syndrome.

At this Council’s meetings over the past year, you’ve heard from my colleagues at NDSS and others in the Down syndrome community about the genetic link between Down syndrome and Alzheimer’s disease. You’ve heard that, at the population level, people with Down syndrome are more likely to develop Alzheimer’s disease than others who have two copies of chromosome 21 instead of three. You’ve heard that no one fully understands why. You’ve heard that more research is needed and have been asked to form a subcommittee focused on improving supports for people with intellectual and developmental disabilities.

What you haven’t heard yet is just how much adults with Down syndrome are capable of. As an adult with Down syndrome myself, I believe very deeply in breaking down myths and misconceptions about people who have Down syndrome.

I recently graduated from George Mason University, summa cum laude, with a Bachelor of Arts in Sociology with a concentration in Inequality and Social Change. My studies and my work perfectly complement each other. As a budding sociologist, I examine the structural and systemic inequalities in society that affect the lives of people with disabilities, and as an advocate, I use this knowledge to raise awareness about them and to affect positive change.

As part of my job at NDSS, I lobby Congress and federal agencies on behalf of the Down syndrome community. I have a bill named after me–the Charlotte Woodward Organ Transplant Discrimination Prevention Act–which would prohibit discrimination against all people with disabilities in the organ transplant process and make it easier for health care providers to understand what they can and cannot do. My bill has bipartisan support in both chambers of Congress.

I am here to urge you, once again, to establish a subcommittee on the connection between Down syndrome and Alzheimer’s disease. I am doing my very, very best to keep my own body active and healthy, and to keep my brain intellectually stimulated, to hopefully avoid Alzheimer’s disease in the future, but I need you to do your very, very best to investigate the association between the two conditions so that people with Down syndrome can live their lives free from Alzheimer’s disease and to help make sure we get the best care if we do develop symptoms.

Thank you so very much for your time and your consideration of this pressing need.

S. Rasmussen | 7-26-2022

Thank you for the opportunity to provide public comment. I am a pediatrician, clinical geneticist, and epidemiologist and currently a Professor of Genetic Medicine at Johns Hopkins University in Baltimore, Maryland. Previously I was employed by the Centers for Disease Control and Prevention in Atlanta.

However, I come before you today as a sister–my younger brother Mark who had Down syndrome recently died at the age of 60 of Alzheimer disease. Mark was born in 1960 when the outlook for children with Down syndrome was not bright. His pediatrician advised my parents to put him in an institution, but they ignored that advice. He attended public schools in our small town in Minnesota and was able to work and live completely independently for more than 30 years. Unfortunately, his successful journey came to an end--at the age of 56, Mark began to show signs of dementia. Shortly thereafter, an Alzheimer disease diagnosis was made, and he had a tragic and rapid downhill path to his death 4 years later.

In my previous position at the CDC, I co-authored a paper, published in the Lancet in 2002, that showed that life expectancy for persons with Down syndrome had increased substantially in the United States from 25 years in 1983 to 49 years in 1997. In the 20 years since that paper was published, even more improvements in the life expectancy of persons with Down syndrome have occurred. Unfortunately, as I saw personally, that progress is being halted by Alzheimer disease. Earlier this year I coauthored a paper published in JAMA Network Open that showed that Alzheimer disease in Down syndrome is similar to a fully penetrant form of autosomal dominant Alzheimer disease with an early age of onset–on average, about 54 years–and disease duration of about 4-5 years. Although our data confirmed the continued increase in life expectancy, we found a clear ceiling effect because of Alzheimer disease. We concluded that lifespan in persons with Down syndrome will not increase further until we better understand how to prevent and treat Alzheimer disease in persons with Down syndrome.

Alzheimer disease is devastating for all and that includes persons with Down syndrome. It is essential that efforts to identify better ways to prevent, diagnose, and treat Alzheimer disease include persons with Down syndrome. I urge the Council to give this condition special attention and to advocate so that adults with Down syndrome, and other similar genetic conditions, be included in any upcoming clinical trials of potentially beneficial medications. Your voice will have an impact and will help those of us who are family members fight for the equity in access to which adults with Down syndrome deserve. Thank you.

Attachment: Iulita et al., Association of Alzheimer Disease with Life Expectancy in People With Down Syndrome. JAMA Network Open. 2022;5(5):e2212910. doi:10.1001/jamanetworkopen.2022.12910