Rare Disease Day: Towards More Equitable Care

Rare Disease Day: Towards More Equitable Care

In a world where more than 7000 types of rare diseases exist, affecting a collective total of 300 million individuals globally, the mission to bring viable treatments to them is a critical one. Despite each disease being technically defined by a small patient population, the cumulative burden of rare diseases is substantial. With the average time for an accurate diagnosis taking just under 5 years and a devastating statistic revealing that approximately 30% of children with rare diseases do not survive past the age of 5, there is an urgent need for better diagnostics, increased awareness and meaningful treatment options.?

However, amidst these challenges, there is hope. Advancements in whole genome sequencing have revolutionized the diagnostic process, offering newfound opportunities for early and precise identification, while more advanced therapies are approved to treat rare diseases than ever before. 5 new gene therapies alone were approved in the last year, and a robust clinical pipeline shows as many as 4 could be approved in 2024. As we highlight Rare Disease Day, the collective efforts to raise awareness and pursue innovative solutions remain critical in addressing the unmet needs and complex landscape of rare diseases.

The Alliance Behind Rare Disease Day?

Rare Disease Day is a worldwide awareness day annually marked on the last day of February to shed light on the immense strength of the patients and families of the rare disease community. This important day creates visibility, strengthens community, advocates for funding and promotes research opportunities to search for new treatments. People all around the world come together to celebrate the unwavering dedication of the community, participate in fundraising events, and spend an entire week in Washington DC lobbying for change, in hopes that the millions of patients affected by rare diseases feel the impact of this support.?

The Promise of Cell and Gene Therapies for Rare Diseases

With research indicating that ~72% of rare disorders stem from genetic causes, cell and gene therapies have emerged as a promising avenue for durable and potentially curative treatments. Remarkable strides have already been made as there are currently 10 FDA-approved gene therapies for rare genetic diseases, with an impressive 5 approvals in 2023 alone. Among these approvals are treatments for conditions like dystrophic epidermolysis bullosa, Duchenne muscular dystrophy, hemophilia A, and sickle cell disease, signifying tangible progress in addressing previously unmet medical needs. Moreover, the momentum continues to build, with the possibility of 5 or more additional gene therapy approvals anticipated in 2024. The treatments in the pipeline, targeting conditions such as metachromatic leukodystrophy, hemophilia B, dystrophic epidermolysis bullosa, AADC deficiency, Fanconi anemia, and hemophilia A, hold the promise of offering newfound hope and relief to those grappling with the challenges of rare diseases.


With regulatory decisions looming and a number of submissions pending, the landscape of rare disease treatment stands on the brink of significant advancement. Ongoing advocacy, fundraising, and support for research and innovation will remain critical in the coming years to help ensure these life-changing treatments are more accessible to patients.?

The Alliance for Regenerative Medicine: US Gene Therapy Rare Disease Pipeline (2024)

Creating Equitable Care for Rare Disease Patients

While these incredible achievements and scientific advancements have provided hope and life changing medicines, it's crucial to acknowledge that the journey towards equitable care for this patient population is far from over. Despite the remarkable progress made in developing treatments, there remain significant disparities in access to care and resources for individuals with rare diseases. Many patients continue to face challenges in obtaining timely diagnosis, accessing specialized treatments, and navigating complex healthcare systems. Even today, 95% of these diseases lack approved treatments. Addressing these disparities requires multifaceted efforts aimed at improving awareness, enhancing healthcare infrastructure, fostering collaboration between stakeholders, and advocating for policies that prioritize the needs of rare disease patients. Ongoing initiatives such as patient advocacy groups, research collaborations, and legislative advocacy are instrumental in driving progress towards achieving equitable healthcare for individuals living with rare diseases.

Bolstering the Regulatory & Legislative Landscape

To kick off Rare Disease Week, members from the Alliance for Regenerative Medicine joined patient advocacy group EveryLife Foundation for Rare Diseases in Washington DC to lobby and raise awareness on policy proposals that will impact rare disease patients and the larger community. The movement advocates for a legislative and regulatory framework that will help rare disease patients access life changing cell and gene therapies.?

In honor of Rare Disease Week and the important discussions occurring in DC, the FDA is also holding a public meeting on March 1, 2024 aimed at addressing important items pertaining to rare diseases. The meeting will focus on the legal framework surrounding the approval of studies and medical products by the FDA, the agency's procedures during review processes for medical product approval, as well as topics such as decentralized clinical trials, digital health technologies, and the accessibility of important information and documents related to clinical trials.?

Additionally, discussions will cover the legal and ethical requirements for consent forms in clinical trials, FDA initiatives aimed at advancing medical product development for rare diseases, and avenues for patients to engage with the FDA. The FDA also recently announced?that it plans to use accelerated approval for gene therapies aimed at rare conditions more frequently. These efforts underscore the FDA's commitment to addressing the unique challenges faced by patients and the entire care ecosystem in navigating the complexities of rare diseases. By continuing to raise awareness, fostering critical conversations, and advocate for systemic change, we can work towards ensuring that every rare disease patient receives the support and care they deserve.

Rare Disease Day 2024 is marked by both important advances and persistent challenges ahead we must overcome. As we move into another exciting year of progress and developments, a continued emphasis must be placed on early and precise diagnostics as well as effective treatment options for rare diseases. A dynamic approach that allocates funding for R&D, increased awareness, and integration of rare diseases into the public domain and healthcare system will be critical in continuing the promising progress. With continued dedication and a patient centered approach to rare diseases, we can work to create equitable care and address the unmet needs of the millions of patients around the world impacted by rare diseases.

About the Author

Anshul Mangal, President of Project Farma (PF).

Anshul founded and grew PF into a leading global biologics and advanced therapy engineering consulting firm. Under Anshul’s leadership, PF pioneered the industrialization of advanced therapies including two notable, commercially approved cell and gene therapies. PF was acquired by Precision Medicine Group in 2020 to be the cornerstone of manufacturing solutions—and a key part of a collection of Precision services uniquely focused on cell and gene research and clinical development, regulatory, manufacturing, and commercial needs to successfully bring these advanced therapies to market.

Anshul Mangal, President of Project Farma (PF) & Precision ADVANCE


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