Annie Kennedy

Fischer R, Furlong P, Kennedy A, Maynard K, Penrod M, Miller D, Laverty CG, Lowes LP, Kuntz NL, Shieh PB, Kondejewski J, Neumann PJ, Shafrin J, Willke RJ. . 2024;17:4199-4212
https://doi.org/10.2147/JMDH.S458181

This report summarizes the key discussions from the "Early Care (0-3 years) in Duchenne Muscular Dystrophy" meeting, which aimed to address the challenges and opportunities in the diagnosis and care of Duchenne muscular dystrophy (DMD) and female carriers within the 0-3-year age group.

Patient Centered-Core Impacts Sets are developed to offer value assessors concrete health measurements.

The goal is to inform research by providing a starting point for setting objectives and selecting endpoints.

In this paper, we encourage expanding current thinking to all “impacts,” not only health outcomes, but also the other equally (and sometimes more important) concerns patients report as important to them. We propose that a patient-centered core impact set be developed for each disease or condition of interest, and/or subpopulation of patients. A patient-centered core impact set begins with gathering from patients and caregivers an inventory of all impacts disease and treatments have on a… Show more

In this paper, we encourage expanding current thinking to all “impacts,” not only health outcomes, but also the other equally (and sometimes more important) concerns patients report as important to them. We propose that a patient-centered core impact set be developed for each disease or condition of interest, and/or subpopulation of patients. A patient-centered core impact set begins with gathering from patients and caregivers an inventory of all impacts disease and treatments have on a patient’s (and carers’ and families’) life. Then, through a formal prioritization process, a core set of impacts is derived, inclusive of but extending beyond relevant health outcomes. Show less

To provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the United States (U.S.) in 2019. We followed a prevalence-based approach that combined the prevalence of 379 RDs with the per-person direct medical and indirect costs, to derive the national economic burden by patient age and type of RD. To estimate the prevalence and the direct medical cost of RD, we used claims data from three sources: Medicare 5% Standard Analytical File, Transformed Medicaid… Show more

To provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the United States (U.S.) in 2019. We followed a prevalence-based approach that combined the prevalence of 379 RDs with the per-person direct medical and indirect costs, to derive the national economic burden by patient age and type of RD. To estimate the prevalence and the direct medical cost of RD, we used claims data from three sources: Medicare 5% Standard Analytical File, Transformed Medicaid Statistical Information System, and Optum claims data for the pri- vately insured. To estimate indirect and non-medical cost components, we worked with the rare disease community to design and implement a primary survey Show less

EveryLife & the rare disease community are excited to be featured in the Media Planet USA #RareDiseases campaign that shines a light on rare disease policy issues, therapy development, and advocacy efforts. The article by Annie Kennedy focuses on the collective economic impact of rare diseases, the growing data set resulting from the engagement of the rare disease community, and what you can do to help change the landscape of rare disease.

A quartet of recent studies and reports from a variety of authors are shedding new light on the collective cost burdens posed by rare diseases, disorders, and conditions that combined affect between 25 and 30 million people in the United States.

The four studies being analyzed are: the National Economic Burden of Rare Diseases Study, published in February 2021 and prepared for the EveryLife Foundation by the Lewin Group; The IDeaS Initiative: pilot study to assess the impact of rare… Show more

A quartet of recent studies and reports from a variety of authors are shedding new light on the collective cost burdens posed by rare diseases, disorders, and conditions that combined affect between 25 and 30 million people in the United States.

The four studies being analyzed are: the National Economic Burden of Rare Diseases Study, published in February 2021 and prepared for the EveryLife Foundation by the Lewin Group; The IDeaS Initiative: pilot study to assess the impact of rare diseases on patient and healthcare systems, published in October 2021 in Orphanet Journal of Rare Diseases; Can you hear us now? The impact of health-care utilization by rare disease patients in the United States, published in June 2021 in Genetics in Medicine; and Rare Diseases: Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial, published in October 2021 by the GAO upon the direction of Congress. Show less

During the COVID-19 pandemic, state newborn screening programs faced challenges to ensure this essential public health program continued to function at a high level. In December 2020, the EveryLife Foundation for Rare Diseases held a workshop to discuss these common challenges and solutions. Newborn screening officials described challenges including short staffing across the entire program, collection and transport of specimens, interrupted follow-up activities, and pilot study recruitment. To… Show more

During the COVID-19 pandemic, state newborn screening programs faced challenges to ensure this essential public health program continued to function at a high level. In December 2020, the EveryLife Foundation for Rare Diseases held a workshop to discuss these common challenges and solutions. Newborn screening officials described challenges including short staffing across the entire program, collection and transport of specimens, interrupted follow-up activities, and pilot study recruitment. To address these challenges, state programs implemented a wide variety of solutions to maintain the high standards of newborn screening. To address staffing issues, newborn screening programs, public health laboratories, and hospitals all cross-trained personnel, worked to manage staff stress, and established essential functions. Other solutions included working with courier companies to ensure the timely pick-up of specimen, creating educational materials for hospital staff, and the creation of hybrid recruitment models for pilot studies. Implementing the lessons discussed throughout this paper can help to prepare for the next public health emergencies to ensure that a program that interacts with millions of families every year and saves the lives of thousands of children every year is minimally impacted Show less

This book provides a broad overview of rare disease drug development. It offers unique insights from various perspectives, including third-party capital providers, caregivers, patient advocacy groups, drug development professionals, marketing and commercial experts, and patients.
A unique reference, the book begins with narratives on the many challenges faced by rare disease patient and their caregivers. Subsequent chapters underscore the critical, multidimensional role of patient advocacy… Show more

This book provides a broad overview of rare disease drug development. It offers unique insights from various perspectives, including third-party capital providers, caregivers, patient advocacy groups, drug development professionals, marketing and commercial experts, and patients.
A unique reference, the book begins with narratives on the many challenges faced by rare disease patient and their caregivers. Subsequent chapters underscore the critical, multidimensional role of patient advocacy groups and the novel approaches to related clinical trials, investment decisions, and the optimization of rare disease registries. The book addresses various rare disease drug development processes by disciplines such as oncology, hematology, pediatrics, and gene therapy. Chapters then address the operational aspects of drug development, including approval processes, development accelerations, and market access strategies. The book concludes with reflections on the authors' case for real-world data and evidence generation in orphan medicinal drug development.

Rare Disease Drug Development is an expertly written text optimized for biopharmaceutical R&D experts, commercial experts, third-party capital providers, patient advocacy groups, patients, and caregivers Show less

“The attacks on accelerated approval may be cresting after the Alzheimer’s treatment approval, but they were already underway. The attacks are misguided and demonstrate dangerous ignorance of the pathway and its purpose. If these criticisms negatively affect policy, they will hurt people with severe health challenges and further complicate their care.”

Don’t miss today’s op-ed in the Morning Consult by Pat Furlong, Founding President and CEO of Parent Project Muscular Dystrophy (PPMD)… Show more

“The attacks on accelerated approval may be cresting after the Alzheimer’s treatment approval, but they were already underway. The attacks are misguided and demonstrate dangerous ignorance of the pathway and its purpose. If these criticisms negatively affect policy, they will hurt people with severe health challenges and further complicate their care.”

Don’t miss today’s op-ed in the Morning Consult by Pat Furlong, Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), Annie Kennedy, Chief of Policy & Advocacy for the EveryLife Foundation for Rare Diseases, and Ken Thorpe, Ph.D., chairman of the Partnership to Fight Chronic Disease (PFCD). The authors give the FACTS about accelerated approval and why it is so important to protect this treatment pathway. Show less

Over the past decade, Congress has enacted several laws to infuse the voice and perspective of the patient into the therapy development and regulatory review process. Known as patient engagement or patient-focused drug development, these laws and their related Food and Drug Administration (FDA) regulations, guidance documents, and other regulatory activities have had a marked impact in informing agency actions, including by those tasked with reviewing and approving product… Show more

Over the past decade, Congress has enacted several laws to infuse the voice and perspective of the patient into the therapy development and regulatory review process. Known as patient engagement or patient-focused drug development, these laws and their related Food and Drug Administration (FDA) regulations, guidance documents, and other regulatory activities have had a marked impact in informing agency actions, including by those tasked with reviewing and approving product applications.

The arc of patient engagement stretches back to the FDA Safety and Innovation Act (FDASIA, PL 112-144), which was enacted in 2012, and to metrics contained in the corresponding Prescription Drug User Fee Act (PDUFA V) agreement.[1] This arc has subsequently extended into the 21st Century Cures Act (PL 114-255),[2] enacted in late 2016, and on into the FDA Reauthorization Act (PL 115-52), enacted in August 2017.[3] As we write, interest in patient engagement policy continues to expand as legislators, regulators, industry, and patient stakeholders turn their attention to PDUFA VII, which must be enacted by September 2022.

While patient engagement is a broad, growing category, this article will review two provisions of the 21st Century Cures Act: Sections 3001 (Patient Experience Data) and 3002 (Patient-Focused Drug Development Guidance), which sought to achieve two fundamental goals regarding patient engagement policies:

1.Creating more transparency as to how patient information is being considered as part of medical product review processes; and

2. Providing clearer direction and guidance to stakeholders interested in developing patient engagement tools, including direction and guidance on processes and standards for producing instruments appropriate for regulatory review.

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PFDDworks is a collaborative forum for patient advocacy leaders to share learnings and advance understanding of how patient-focused drug development can be most effective and best deployed while ensuring that patient organizations remain at the forefront. PFDDworks is convened by Faegre Drinker Consulting and the Kith Collective.

When the Food and Drug Administration Safety and Innovation Act (FDASIA) was signed into law on July 9, 2012, expectations for one of its high-profile… Show more

PFDDworks is a collaborative forum for patient advocacy leaders to share learnings and advance understanding of how patient-focused drug development can be most effective and best deployed while ensuring that patient organizations remain at the forefront. PFDDworks is convened by Faegre Drinker Consulting and the Kith Collective.

When the Food and Drug Administration Safety and Innovation Act (FDASIA) was signed into law on July 9, 2012, expectations for one of its high-profile provisions—the Patient Focused Drug Development (PFDD) initiative—were modest. A commitment by the U.S. Food and Drug Administration (FDA) to host twenty meetings designed to “more systematically obtain the patient perspective on specific diseases and their treatments” could not have been predicted to catalyze such profound change—within the agency itself, among the patient communities that have led and embraced the movement it fueled, and ultimately in how all medical products are developed and reviewed in the U.S. and potentially beyond.

Some may wait for solid “proof” of PFDD’s merits—a particular product approval, a label indication, or a coverage decision based on patient experience data—but those at the forefront see evidence of its deep and wide impact throughout the biomedical ecosystem. In the first half of this article, we examine these impacts.

This is a pivotal time for PFDD. Its full-scale adoption includes ways that truly improve individual and public health and its very future depends on keeping patients and their caregivers at the center of PFDD. Our recommendations for making PFDD matter more and maintaining its authenticity follow in the second half of the article. Show less

Care Considerations Pediatrics Supplement

The Pediatrics supplement, also funded by the CDC, is a set of 13 articles that expands on the clinical care for each subspecialty outlined in the Lancet Neurology articles. The supplement provides new resources, including a toolkit to help individuals with DMD transition into adult medical care. These articles and resources can help families and providers manage DMD care. Also included is an article on evaluation of the care considerations, with… Show more

Care Considerations Pediatrics Supplement

The Pediatrics supplement, also funded by the CDC, is a set of 13 articles that expands on the clinical care for each subspecialty outlined in the Lancet Neurology articles. The supplement provides new resources, including a toolkit to help individuals with DMD transition into adult medical care. These articles and resources can help families and providers manage DMD care. Also included is an article on evaluation of the care considerations, with key elements of care that clinics can measure. Show less

Abstract

Introduction: As the proportion of males with Duchenne muscular dystrophy (DMD) surviving into adulthood increases, more information is needed regarding their health care transition planning, an essential process for adolescents and young adults with DMD. The objective of this study was to describe the health care transition experiences of a population of males living with Duchenne or Becker muscular dystrophy (DBMD).

The Duchenne Patient-Focused Compass Meeting was held as part of FDA’s Patient-Focused Drug Development (PFDD) initiative. As an externally led meeting, it was hosted and planned by Parent Project Muscular Dystrophy (PPMD) in collaboration with FDA and a Community Advisory Board com- prised of leaders of 14 independent Duchenne patient advocacy organizations (listed in Acknowledge- ments on page 49).
Federal partners from the National Institutes of Health (NIH), Centers for Disease Control… Show more

The Duchenne Patient-Focused Compass Meeting was held as part of FDA’s Patient-Focused Drug Development (PFDD) initiative. As an externally led meeting, it was hosted and planned by Parent Project Muscular Dystrophy (PPMD) in collaboration with FDA and a Community Advisory Board com- prised of leaders of 14 independent Duchenne patient advocacy organizations (listed in Acknowledge- ments on page 49).
Federal partners from the National Institutes of Health (NIH), Centers for Disease Control and Prevention (CDC), Centers for Medicare and Medicaid (CMS), Social Security Administration (SSA), Department of Education, Department of Labor, and Department of Defense also attended. Representatives from industry, including members of PPMD’s Duchenne Drug Discovery Roundtable, health insurance plans, and other stakeholders were present on-site and via the live webcast. Show less

Abstract

Improvements in the function, quality of life, and longevity of patients with Duchenne muscular dystrophy (DMD) have been achieved through a multidisciplinary approach to management across a range of health-care specialties. In part 3 of this update of the DMD care considerations, we focus on primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Many primary care and emergency medicine clinicians are inexperienced at managing the… Show more

Abstract

Improvements in the function, quality of life, and longevity of patients with Duchenne muscular dystrophy (DMD) have been achieved through a multidisciplinary approach to management across a range of health-care specialties. In part 3 of this update of the DMD care considerations, we focus on primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Many primary care and emergency medicine clinicians are inexperienced at managing the complications of DMD. We provide a guide to the acute and chronic medical conditions that these first-line providers are likely to encounter. With prolonged survival, individuals with DMD face a unique set of challenges related to psychosocial issues and transitions of care. We discuss assessments and interventions that are designed to improve mental health and independence, functionality, and quality of life in critical domains of living, including health care, education, employment, interpersonal relationships, and intimacy. Show less

Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne is a 100% fatal disease, the clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual’s life span. In anticipation of the changing therapeutic landscape for the Duchenne community, Parent Project Muscular Dystrophy established a… Show more

Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne is a 100% fatal disease, the clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual’s life span. In anticipation of the changing therapeutic landscape for the Duchenne community, Parent Project Muscular Dystrophy established a newborn screening (NBS) initiative. This initiative included a Bioethics and Legal Issues Workgroup to consider the bioethics and legal issues of NBS for Duchenne. The workgroup’s discussion focused only on Duchenne NBS and met through conference calls over a one-year period of time seeking consensus on various identified issues. This article reports on the findings and recommendations from that workgroup. Show less

Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately loss of ambulation and respiratory insufficiency. Glucocorticoids are the only pharmacological agents known to alter the natural progression of the disease by prolonging ambulation, reducing scoliosis, and assisted ventilation. Introduction of… Show more

Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately loss of ambulation and respiratory insufficiency. Glucocorticoids are the only pharmacological agents known to alter the natural progression of the disease by prolonging ambulation, reducing scoliosis, and assisted ventilation. Introduction of therapy at an early age may halt the muscle pathology in DMD. In anticipation of the potentially disease-modifying products that are reaching regulatory review, Parent Project Muscular Dystrophy (PPMD) formally initiated a national Duchenne Newborn Screening (DNBS) effort in December 2014 to build public health infrastructure for newborn screening (NBS) for Duchenne in the United States. The effort includes a formalized national Duchenne Newborn Screening Steering Committee, six related Working Groups, a Duchenne Screening Test Development Project led by PerkinElmer, a program with the American College of Medical Genetic and Genomics’ Newborn Screening Translation Research Network (NBSTRN), and collaborations with other Duchenne partners and federal agencies involved in NBS. We herein review the organization and effort of the U.S. DNBS program to develop the evidence supporting the implementation of NBS for DMD. Show less

Abstract
INTRODUCTION:
We conducted a comprehensive study of the costs associated with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD). and myotonic dystrophy (DM) in the U.S.
METHODS:
We determined the total impact on the U.S. economy, including direct medical costs, nonmedical costs, and loss of income. Medical costs were calculated using a commercial insurance database and Medicare claims data. Nonmedical and indirect costs were determined through a survey… Show more

Abstract
INTRODUCTION:
We conducted a comprehensive study of the costs associated with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD). and myotonic dystrophy (DM) in the U.S.
METHODS:
We determined the total impact on the U.S. economy, including direct medical costs, nonmedical costs, and loss of income. Medical costs were calculated using a commercial insurance database and Medicare claims data. Nonmedical and indirect costs were determined through a survey of families registered with the Muscular Dystrophy Association.
RESULTS:
Medical costs were driven by outpatient care. Nonmedical costs were driven by the necessity to move or adapt housing for the patient and paid caregiving. Loss of income correlated significantly with the amount of care needed by the patient.
CONCLUSIONS:
We calculated the annual per-patient costs to be $63,693 for ALS, $50,952 for DMD, and $32,236 for DM. Population-wide national costs were $1,023 million (ALS), $787 million (DMD), and $448 million (DM).
Copyright © 2013 Wiley Periodicals, Inc. Show less

Abstract
New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up… Show more

Abstract
New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Show less

The National Alliance for Caregiving, in partnership with the LEAD Coalition, has released Paving the Path for Family-Centered Design: A National Report on Family Caregiver Roles in Medical Product Development, which explores the vital roles that family caregivers can play in shaping biomedical research and development, regulatory decision-making and healthcare delivery. This first-of-its-kind report begins a dialogue on how to incorporate the critical knowledge of caregivers in developing… Show more

The National Alliance for Caregiving, in partnership with the LEAD Coalition, has released Paving the Path for Family-Centered Design: A National Report on Family Caregiver Roles in Medical Product Development, which explores the vital roles that family caregivers can play in shaping biomedical research and development, regulatory decision-making and healthcare delivery. This first-of-its-kind report begins a dialogue on how to incorporate the critical knowledge of caregivers in developing pharmaceutical products, biologic therapies, diagnostics, and medical devices. The report also provides recommendations for leveraging caregivers' enormous reservoir of information and observations about the conditions their care recipients experience and associated health outcomes. The report was developed with the clear recognition that people living with various health conditions along with their friends and family members are essential partners in the delivery of health care. Show less