The Role of Patient Associations in Rare Disease Drug Development


Monica Weldon, CEO and president of Bridge the Gap – SYNGAP Education and Research Foundation, shares her recent experience at the US Drug Law and Regulation course in Washington, DC and expands on the role that patient associations can play in the drug development process.


In today’s environment of high-stakes, expensive, rare disease drug development, it is vital that patient advocacy leaders and organizations understand the complexities, laws, guidelines and processes involved in rare disease drug development

As the leader of an ultra-rare disease organization, I have quickly learned how important it is to understand every aspect of drug development. Non-profit, patient organizations advocate on behalf of patients and families for safe, new drug treatments that will improve their disease symptoms and quality of life. Currently, there are more than 7,000 rare diseases recognized worldwide, only five percent have any viable treatment, most have no cure.

In today’s environment of high-stakes, expensive, rare disease drug development, it is vital that patient advocacy leaders and organizations understand the complexities, laws, guidelines and processes involved in rare disease drug development. Recently, it was my honour to be invited to attend the US Drug Law and Regulation course at the Food and Drug Law Institute and the Milken Institute in Washington, DC. The objective was to obtain a better understanding of how patient organizations can effectively engage with industry and regulatory agencies during the drug development process. Many topics were discussed, including information about the different agencies involved, the roles they serve, the laws and guidelines they must follow and the different types of processes that need to be completed prior to access to a drug for disease treatment. There are many factors to consider as we navigate the long road to new drug development and viable treatment for rare disease patients.


Patient Advocacy Organization Strategic Planning & Structure to Support Collaboration and Engagement in the Drug Development Process

Beyond guidelines and regulations, as a leader, I have learned the importance of raising public awareness of rare diseases with everyone, encouraging active patient engagement in the drug development process and building collaborations with a diverse consortium of stakeholders.

Skilled staff, who understand the complexities, guidelines and processes involved for rare disease drug development, are essential to assist in building collaboratives that will benefit the rare disease group they are supporting. Funding for basic science research is a vital step in the drug development process, but it is only 1 of the many needed steps for successful drug development. Many patient communities have a very rudimentary understanding of the current drug development landscape. They expect and need patient organization leaders and staff to be informed and count on them to make sound decisions based upon the unique needs of their specific disease community.  Leaders that represent patient communities have a responsibility to stay updated and educated on the issues and changes that surround the landscape of getting to life-changing/life-saving treatments.

Some patient advocacy non-profits, operating with a narrow focus and program reach, may be able to operate primarily with volunteer staff. The reality for us and, the majority of, non-profits with multiple, on-going programmatic goals and objectives, is the need to hire (at some point) highly skilled professional and administrative support staff to ensure organizational goals are met. In addition to staff, our non-profit Board Members provide invaluable support and guidance by providing governance and oversight of our organization. Volunteers, for us, remain the heart and soul of our organization and perform a variety of roles, such as serving on our Family Advisory Council, Executive Board, fundraising initiatives, family education and support programs. Our volunteers are exceptional and have helped us build a strong foundation on which our organization stands.

Building strong, diverse collaboratives. that benefit rare disease groups, are an essential part of the equation. One of our priorities is to support patients and families to work in close collaboration with scientists, researchers, clinicians, academia, the pharma industry, FDA and NIH. In order to achieve this, non-profit patient advocacy organizations must have a concise business strategy, embedded with processes that allow for collaboration with all stakeholders.


FDA and Other Agencies

The FDA has ongoing formal and informal relationships with state, local and twelve different federal agencies. The role of the FDA is not only to ensure food and drug safety, but to help enforce regulatory guidelines set by the laws passed by Congress. Our role as a patient advocacy organization is to incorporate the patient voice and our real-world experiences that will assist the FDA determine the best decisions around drug approval and how it affects the quality of life for our patient community. Patient organization leaders need to be aware of drug development laws, regulations and guidelines. These statutory requirements must be adhered to when reporting data and providing supporting documentation to the FDA as a drug moves into the approval stages for review.

The Difference between Laws and Regulations

  • Laws are written and enacted by Congress, empower the FDA to write regulations.
  • FDA Regulations interpret applicable laws and apply statutory requirements.
  • FDA Regulations also provide a framework to follow status and decision guidelines.
  • FDA Guidelines are strictly advisory (non-binding).

FDA “Good Guidance Practices” 21 CFR10.115

In order to effectively fulfill their mission, the FDA – Center for Drug Evaluation and Research (CDER) must coordinate with 12 Federal Agencies; other interagency departments; a multitude of other Federal Offices and Programs including, but not limited to the – DEA, NIH, CMS, CDC, AHCRQ and respective state and local agencies within all 50 states.


Natural History Registries & Investigational New Drug (IND) Development

Advocacy organizations that support their own research and databases need to become experts in the drug development process. There are key considerations for patient groups to consider prior to delving into the landscape of drug development and in preparation for clinical trials. This is critically important when it comes to the design of a database and natural history. An initial evaluation of basic symptomology is needed to design disease specific questions that will identify measurable outcomes and biomarkers that can be used to determine if a drug is working. Collecting the data through a Natural History Registry helps create a snapshot of a patient’s quality of life and patient burden. This allows for baseline measurements for new drugs being considered for clinical trials. Natural History Registries, with disease specific patient data, provide critical data needed for Investigational New Drug (IND) testing and aid in the development of outcome measures for clinical trials. Meaningful data with measurable outcomes is the only way for the FDA to determine if an IND is effective in treating the patient’s symptoms or condition and improve quality of life.


Legislation Aimed at Achieving Specific Policy Goals for Drug Development

Incentives are needed for companies to invest in rare disease drug development. Federal legislation is imperative to draw interest and provide incentives for rare disease drug development. Momentum for new legislation is frequently created through the efforts of individuals and patient groups who are the voice of change on Capitol Hill. It is the responsibility of rare disease patient advocacy organizations to be involved at every level in order to make a path to treatments possible and barrier free. This involves being actively involved with promoting changes in policy and regulatory guidance that will favor rare disease drug development, commenting on pieces of legislation that could or do affect the landscape of rare disease drug development and advocating for rare disease drug development directly with government officials at the local, state and federal level. Our patient community depends on our organization to understand the political and regulatory landscape in order to make well- informed decisions as we move forward in the drug development process to find a viable therapy.


Patient Advocacy Organizations Interactions with Industry Stakeholders in Drug Development

Collaborations and partnerships with industry for the purpose of rare disease drug development can help accelerate the pathway to the development of new treatments. It is vitally important that patient advocacy organizations ensure interactions with industry are aligned with the overarching mission and vision of the organization. Organizations must be clear regarding their agreed upon and shared objectives, expectations and the nature of the relationship when establishing a collaboration or partnership with Industry for the purpose of drug research and development.



In closing, I hope I provided you with some valuable insights and information about some of the many factors that need to be carefully considered, as patient advocacy organizations navigate the pathway to treatments. The US Drug Law and Regulation course at the Food and Drug Law Institute and the Milken Institute in Washington, DC provided an excellent opportunity to broaden and deepen my understanding of the laws and regulations regarding the drug development process. The complexities we must navigate, as we travel the winding pathway to successful, viable treatments for rare disease patients, will bring rewards that cannot be calculated.


*I would like to sincerely thank the EveryLife Foundation for Rare Diseases for providing the opportunity and covering my costs to attend the US Drug Law and Regulation course at the Food and Drug Law Institute and the Milken Institute in Washington, DC. The EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy. They provide rare disease advocates and patients training, education, resources and opportunities to make their voices heard.

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