Press Releases

Patient Groups Issue Guidelines for Ensuring Access to Care and Treatment for Rare Disease Patients

September 1, 2020

Patient Groups Issue Guidelines for Ensuring Access to Care and Treatment for Rare Disease Patients, Citing Critical Needs and Gaps Further Exposed and Stretched During COVID-19

ALISO VIEJO, CALIF. – Sept. 3, 2020 – Global Genes and the Child Neurology Foundation, as part of the Rare Access to Critical Therapies (ACT) collaboration, announced today the joint release of a report highlighting and supporting guiding principles of rare disease care and access — which the groups assert are universally relevant to all patients with rare diseases. This report is based on multi-stakeholder workshops and rare disease landscape and literature evaluations led by ACT, which involves leading patient, provider, research, and industry organizations. 

ACT was founded in late 2018 based on evidence of significant unmet need and care variability in patients with rare diseases, to ensure the rare disease patient perspective was fully considered as part of broader public discussions and policy formation that could impact and improve patient access to needed therapies, immediately and in the future. 

Certain gaps in access to rare disease care, trials and treatment have widened, and others have been exposed during COVID-19. At the same time, we’ve seen an advancement in the pace and productivity of treatment discovery and drug development in response to a public health crisis, which offers hope, and perhaps a model for rare diseases. These developments and others on the policy front make the release of the report all the more timely. 

The report, entitled “Guiding Principles of Rare Disease Care and Patient Access,” characterizes five fundamental expectations for rare disease patient care that all health stakeholders should acknowledge and act upon. Key areas where progress has and has not been made toward achieving these Guiding Principles are highlighted, as are areas where challenges and/or additional work remains to achieve the intention of each Guiding Principle. 

“The aggregate impact of rare diseases is as significant as diseases considered national priorities, though individual patient impact is often more profound. As such, our approaches to achieving each Guiding Principle must consider the efficiencies of broader solutions, while not missing the variability of individual patient needs. This report shows that there remains much work to do to strike the right balance for rare disease patients, despite breakthrough areas of progress,” said Eric Faulkner, vice president, precision and transformative medicine at Evidera and executive director of the Genomics, Biotech and Emerging Technology Institute of the National Association of Managed Care Physicians, who served as the lead author for this publication. 

“Global Genes has been dedicated to supporting rare disease patients and their families since its inception, collectively bringing forward the community as one, increasing the voice and influence of those impacted every day,” said Nicole Boice, co-founder of RARE-X and visionary for this effort, on behalf of Global Genes. “We believe the Guiding Principles outlined in this report are a meaningful step forward to ensure that the patient perspective is front and center and included in all decisions related to access to treatments and care.” 

The five Guiding Principles that the multi-stakeholder leadership group believes are the right of every rare disease patient include: 

  1. Timely and sustainable access to diagnostic testing that rapidly informs appropriate patient care and treatments
  2. Timely and sustainable access to the highest quality care and most effective treatments that address underlying disease or key symptoms
  3. Value assessment processes that provide timely and sustainable access to current and future therapies for which patient-centric benefit is the deciding factor
  4. Fulfilling quality of life while lessening the disease burden for both patients and caregivers
  5. Standards of care that reflect acceptance of each patient’s uniqueness and equality for all patients regardless of disease rarity

“Of the 7,000 rare diseases identified, 50% of them have a neurologic component and of those, 75% originate in childhood,” stated Amy Brin, executive director/CEO of the Child Neurology Foundation. “This robust intersection between rare disease and the child neurology community has provided a foundational alignment for our organization to co-lead this initiative with Global Genes since 2018, and calls for patients to be seen and heard first within all conversations about access to critical therapies.” 

“We hope readers find this manuscript to be enlightening in the clear identification of the core principles that are due all patients, while also highlighting key areas where stakeholders must come together to collectively address and solve for desperately needed care and access solutions,” said Timothy M. Miller, vice president and global therapeutic area head, leader of the Rare Disease and Pediatrics Center of Excellence at Evidera/PPD and a co-author. 

The full report, jointly presented by Global Genes and the Child Neurology Foundation, is available to download here: access/

About Global Genes Global Genes is a 501(c)(3) nonprofit organization that connects, empowers, and inspires the rare disease community, with the ultimate goal of eliminating the burdens of rare disease for patients and families everywhere. We provide hope for the more than 400 million people affected by rare disease around the globe. We fulfill our mission by helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government and other stakeholders, share data and experiences, and stand up, stand out, and become effective advocates on their own behalf. If you or someone you love have a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit the resource hub at

About the Child Neurology Foundation The Child Neurology Foundation serves as a collaborative center of education and support for children living with neurologic conditions and their families. We connect partners from all areas of the child neurology community so that those navigating the journey of disease diagnosis, management, and care have ongoing support from those dedicated to treatments and cures. Our expanding network of patients and caregivers, advocates, partners, researchers, and physicians is committed to helping one another along the path that leads to the best quality of care — and the highest quality of life — for every child. For more information, check out CNF’s website!