World Orphan Drug Congress: Rare Disease Trials and Patient Registries

On April 28th, the virtual World Orphan Drug Congress USA 2021 was held. The program featured a variety of subjects relevant to the development of orphan drugs and the rare disease community. Patient Worthy had the privilege of attending some of the sessions during the day. The first one we sat in on was titled “Improving access and awareness of rare disease trials through patient and registries.”

This session featured Kelly McKee, who is Senior Director of Patient Registries and Recruitment at the company Medidata, as well as patient advocate Kimberly Richardson. The session was conducted in an interview-style format.

Kimberly, a Black woman, was diagnosed with ovarian cancer in 2013, and it was an especially rare variant called granulosa cell tumor. Following her diagnosis and treatment, Kimberly dove into ovarian cancer advocacy with a specific focus on the unusual form that she had:

“I got very actively involved in advocacy…largely because of my experience when I was going through treatment. There was not a lot of research on the internet and more importantly, there wasn’t even much info coming from my oncologist.”

Kimberly has been an advocate for around six years. It can be difficult for patients with rare diseases to learn about the opportunities available to get involved in trials and research, and there’s a lot of considerations that must be accounted for, such as the scale of the patient population, the geographic distribution of the population, and more.

“All of these factors are important because we have to ask: Where are these people? How are we going to get them involved in a trial?”

Ultimately, if your physician can’t even convey basic info about your disease, then there’s almost no chance they will know about trials. This is where patient registries can come into play. Granulosa cell tumor patients have already started organizing themselves and a registry could be a major step towards progress:

“Many women note a diagnosis of PCOS (polycystic ovary syndrome) before their diagnosis. That’s something that should be researched.”

Kelly says that having patients engaged can help them feel empowered and valued, and Kimberly says that can be a good time to start discussing the possibility of trials with these patients. A direct relationship between researchers and patients is also crucial.

Kelly says that patients who are considering getting involved in a trial shouldn’t be pressured in one direction or the other and should have the time to truly make their own decision. Well designed and interactive registries can serve as a valuable medium for engaging patients about trials:

“For me I also have a rare form of a breast cancer, and because of my gene mutation I signed up for this registry. I did this three months ago but I haven’t heard anything back. I would prefer regular updates to remind myself that I submitted my name to that registry.” – Kimberly

Kimberly and other advocates have been involved in giving feedback that has helped influence registries managed by Medidata. This feedback was sought from the beginning and was instrumental in their creation and arrangement.

Kelly and Kimberly also talked about diversity in registries and trials and the changes that need to be made:

“I’m challenged every day when I think about this…how do we get data about representation when everything is de-identified? We have to continue to talk through how that’s gonna happen…” – Kimberly

Kimberly remarks that it is important for everyone to be aware of the impacts of unconscious biases and that these biases can cause significant, if not necessarily intentional, harm.

Ultimately, scientists need to be more effective at reaching out and organizing with patients, and social media, where many patients are already organized, can be a useful tool for doing this.

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