Moving policy toward equity for Down syndrome

LuMind IDSC and the National Task Group on Intellectual Disabilities and Dementia Practices (NTG) are collaborating again to co-lead and launch a key project, The Early Down syndrome-associated Alzheimer’s Disease (DS-AD) Staging Project. This new project is the result of last summer’s Congressional Committee meeting with the federal Centers for Medicare and Medicaid Services (CMS) to discuss their decision around rules for reimbursing recently FDA approved Alzheimer’s drugs. This meeting, aside from the groundbreaking confirmation from CMS that people with Down syndrome would not be excluded from Medicare insurance coverage for this class of drugs, identified the need to create definitions and diagnosis of the stages of DS-AD. In addition, the FDA, pharmaceutical companies, practicing clinicians and care providers are equally interested in these stages of DS-AD.

Why? Because in the neurotypical population, the stages of Alzheimer’s are well defined and guide treatment as the disease progresses. Because there are well established expected levels of cognitive function in the neurotypical population, individuals presenting with symptoms of cognitive impairment or dementia can be readily placed on a continuum of Alzheimer’s stages. The ability to place an individual on this continuum of Alzheimer’s stages also informs how they are cared for by clinicians and which therapeutics they are eligible for. Unfortunately, this staging process is much more complicated for people with Down syndrome because of highly variable levels of baseline cognitive function due to intellectual disability. Despite being recognized as a genetically determined form of Alzheimer’s, there is not established consensus about how to define the stages and monitor the clinical progression of DS-AD, which is a significant barrier to clinical trial enrollment, effective treatment, and equitable access to the latest approved therapeutics for the DS community.

LuMind IDSC and NTG are leading the DS-AD Staging Project to remove this barrier. A 14-member panel of international experts has been convened to develop consensus on the staging of DS-AD, focusing on defining the biological stages of the disease, understanding impairments across different domains at each stage, and establishing diagnostic criteria. This project will serve as a guidepost for the future treatment of DS-AD. In addition to the experts panel, a survey will be sent out to a broad set of experts and constituents as input to this consensus project.

Other important additional progress towards our important goal of adults with Down syndrome having equal access to the emerging Alzheimer’s treatments with (or near) FDA approval:  Acknowledgement of DS as stage 0 of Alzheimer’s disease in the latest AA Revised Criteria for Diagnosis and Staging of Alzheimer’s Disease. This acknowledgement represents an important designation that DS-AD is a genetic condition that could benefit from treatment.

LuMind IDSC is working to ensure that people with Down syndrome have equal access to the emerging Alzheimer’s treatments with (or near) FDA approval.

In 2022 and 2023, LuMind IDSC partnered with the National Task Group on Intellectual Disabilities and Dementia Practices (NTG) to lead a consensus panel of 20 specialists with expertise in intellectual disabilities, Down syndrome, and Alzheimer’s to call for drug formulary committees to modify prescriptions criteria to account for the younger onset age of dementia among people with Down syndrome, the use of alternative language in the criteria, and the need for adaptation of assessment instruments validated for cognitive decline in the Down syndrome population.

The completed work, Adapting prescribing criteria for amyloid‐targeted antibodies for adults with Down syndrome, was recently published in the journal of the Alzheimer’s Association to illustrate why and how healthcare insurers’ prescribing criteria should be adapted to include people with Down syndrome.

In 2023, LuMind IDSC made a series of key recommendations submitted to the federal Centers for Medicare and Medicaid (CMS) related to their proposed registry of users of Aduhelm and Leqembi. If/when anti-amyloid drugs are deemed safe for people with Down syndrome, doctors will be required to register patient information with the CMS registry when prescribing one of the new drugs. But the registry was not designed with the ID/D community in mind, and the criteria fields of the registry form would be impossible for a doctor to complete for a patient with Down syndrome. LuMind IDSC, together with our partners at NTG and 14 Alzheimer’s and Down syndrome experts, led the call for adaptations to the registry that are currently being considered by CMS.

LuMind IDSC is committed to ensuring the Down syndrome community is keenly aware of the inequity of access to life-changing therapies, and works to educate caregivers and self-advocates on the steps they can take to help rectify the injustice. In 2023, a digital petition was launched to demand policy change and national attention to the systemic barriers that face people with Down syndrome and Alzheimer’s. Everyone is invited to sign and share: Med Equity 4 DS.

Mainstream and biotech publications have been devoting space to this important conversation:

• Reuters article: “Down syndrome families fight for access to Alzheimer’s trials treatments“
• Boston Globe editorial: “People with Down syndrome deserve access to Alzheimer’s treatments“
• Fierce Biotech article: “Alzheimer’s meds are here. But for the Down syndrome community, it’s still the 1980s”
• Washington Post article: “For people with Down syndrome, a longer life, but under a cloud“

LuMind has also published several pieces explaining policy and advocacy efforts to the community:

• Down syndrome community will see a clinical trial of anti-amyloid therapy
• Key updates on Down syndrome access to new Alzheimer’s drugs
• LuMind IDSC statement on donanemab data

More information can be found on our news and info page, here.

In June 2024, LuMind IDSC submitted comments to the U.S. Food & Drug Administration in response to the FDA’s efforts to increase clarity for pharmaceutical companies conducting clinical trials in Early Alzheimer’s disease. The comments are published here.

In March 2021, LuMind IDSC led a Critical Path Innovation Meeting on Down Syndrome Associated Alzheimer’s Disease (DS-AD) to engage the FDA in a discussion around identifying and removing existing regulatory barriers to running clinical trials in DS-AD. The meeting served as a dialogue toward charting a clearer regulatory path for future DS-AD drug development in both prevention and treatment settings. The discussion was guided by two case studies: 1) the development of a product for prevention of DS-AD using the accelerated approval regulations, and 2) development of supplemental efficacy for product approved for late onset Alzheimer’s disease (LOAD). The goal was to get the FDA’s feedback on future Alzheimer’s prevention trials in the Down syndrome population. In addition, we hoped to gain clarity on the FDA’s thinking about safety trials in the Down syndrome population for treatments approved for use in the general population.

Immediately following the CPIM meeting, the LuMind IDSC team hit the ground running by leading two key stakeholder follow up meetings; one geared for scientific and industry stakeholders and one for Down syndrome affiliates and peer organizations. Those meetings, in turn, sparked a series of projects like the Prior Use Authorization Criteria consensus and later the early DS-AD staging project, as well as an ongoing community education program and toolkit for Down syndrome organizations to raise awareness of research in the Down syndrome community.

In July 2020, LuMind IDSC submitted to the NIH a comprehensive plan and strategy for advancing medical research that will dramatically improve the health and well-being of individuals with Down syndrome by 2030. This was the result of a wide collaboration led by Dr. Jim Hendrix, former Chief Scientific Officer at LuMind IDSC and colleagues at the National Down Syndrome Society (NDSS). More than 50 clinicians, researchers and community members joined this effort to first work in 12 separate work groups to review progress and identify gaps in their respective area of DS research since 2014. A joint virtual meeting was held in April, 2020 with each workgroup presenting their findings followed by a process resulting in an agreed upon comprehensive plan and strategy. The plan outlines priorities in five major areas for understanding the basic biology of Down syndrome; screening, diagnosis and functional measures; treatment and management; aging; and research infrastructure. It also includes detailed priorities for addressing associated medical conditions related to DS, including Alzheimer’s and aging; behavior and autism; cancer; cognitive development and independence; dental and oral health; heart and vascular; immunity; musculoskeletal, metabolic and obesity; sleep and respiratory; and speech, language, hearing and vision. We are very proud that it includes community engagement feedback and recommendations from individuals with Down syndrome, caregivers and leaders from local and national DS organizations. The goal of this effort is to help direct NIH funding and advance advocacy efforts.