WASHINGTON, DC—Government partners, researchers, and patient advocates discussed strategies for enhancing diversity, equity, and inclusion in rare disease research during a session at the National Organization for Rare Disorders’ (NORD) Rare Disease and Orphan Products Breakthrough Summit.

The session was led by Lola Fashoyin-Aje, MD, MPH, deputy director of the division of oncology at the US Food and Drug Administration (FDA).

Since NORD was founded by a grassroots advocacy effort to push for the adoption of the Orphan Drug Act (ODA), health disparities are important to the organization’s history. The law was passed to promote innovation and drug development for diseases impacting small, marginalized populations, noted Pamela Gavin, executive vice president of NORD.

“Despite the great legislative success of the ODA, its promise can only truly be realized if inequities in our society and health care system are addressed,” Gavin said. “Ensuring that research participants represent the racial, ethnic, and socioeconomic diversity of patients is paramount to any advancement in rare disease research.”

The FDA has released guidance advising research sponsors to employ strategies aimed at increasing the diversity of study participants in clinical studies and trials that are submitted to the administration, Fashoyin-Aje noted.

“The guidance predated the global and national discussions that we have had in the past 2 years around the importance of this issue. Most recently, the FDA issued guidance recommending that sponsors submit diversity plans as part of their clinical development programs to the FDA and that these plans be implemented early in drug development,” Dr. Fashoyin-Aje said.

Overcoming Structural Barriers

Efforts should be made to build trust and overcome structural barriers that inhibit trial participation for the full diversity of patients with a disease, noted Kathleen Donohue, MD, director of the division of rare diseases and medical genetics at the FDA.

The medical profession has a long way to go in building trust among patients and the FDA thus includes patients in industry meetings whenever possible, Dr. Donohue said.

She pointed out that if patients experience other life stressors, participation in a trial might not take precedence.

“If they are worried about housing or facing other challenges in life, they may not have the time to participate in a clinical trial. So, I think that there is a lot that we can do to minimize the trial burden for patients,” Dr. Donohue said. “I’m a fan of decentralized trials and bringing the science to the patients, instead of bringing the patients to the science.”

Dr. Donohue also noted that what is considered diversity in a trial will ultimately be based on what is good science. “We recognize that if it is an X-linked disease, we may not have 50% women in the trial. So some of it is about who is the patient population,” she continued.

Building Trust and Relationships

Connie Lee, PsyD, founder and chief executive officer of the Alliance to Cure Cavernous Malformation, noted that allocating funding to diversity and inclusion, as well as outreach and engagement, is key in meeting the need for diversity.

Notably, Dr. Lee also said this does come with the risk of losing some major donors, but that patient advocacy groups will reap rewards in other areas, like gaining financial support from other organizations and engagement from patients.

Lee emphasized the importance of building a rapport with patients, especially when engaging with Hispanic and Black patients, who may have mistrust. “There are histories of exploitation in clinical research. There is mistrust for very valid reasons, so what we needed to start with is really deep listening to understand what was presenting a barrier and to understand what we could offer,” Lee said.

“It is really critical that we understand how the drugs that we are developing will impact the patients that will receive it,” said Adora Ndu, PharmD, JD, chief regulatory affairs officer at BridgeBio Pharma. “We know that our treatments are broadly marketed. We know that they are not being targeted at a sliver of a demographic population. So we really have the accountability to think through approaches to increase diversity within our clinical trials.”

Researchers should collaborate with advocacy groups in their efforts early on in the process to ensure adequate time for building relationships, Dr. Lee said. These partnerships should be based on respect, accountability, and transparency; this ensures that advocacy groups feel comfortable working with investigators on future research efforts, she concluded.

The conference drew a crowd that consisted of clinicians, global patient advocacy coalition leadership, and top pharmaceutical company executives.


Strategies for enhancing diversity, equity, and inclusion in rare disease research. Presented at: National Organization for Rare Disorders’ Rare Disease and Orphan Products Breakthrough Summit; October 17, 2022; Washington, DC.