Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry.

They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help accelerate research, during a presentation titled “Take the Leap! Forming a 501(c)(3) & Establishing a Disease Registry to Advance Your Rare Community.”

The webinar was hosted by the National Organization for Rare Disorders (NORD) as part of its RareLaunch program, which provides training and support to those interested in starting 501(c)(3) nonprofit organizations or expanding research. 

Keys to success

NORD’s roots are grounded in the power of capacity building and community engagement, according to Pamela Gavin, NORD’s chief strategic officer. The nonprofit was first formed as a coalition of rare disease patients and family members who helped pass the Orphan Drug Act of 1983, which incentivized biotech companies to invest in research and therapies to treat these groups. 

Fast forward nearly 40 years, and the effects of the legislation are still benefiting rare disease patients. Orphan products accounted for 44% of the total new therapies in 2019, Gavin said. She emphasized that there’s still more work to do and an opportunity for new nonprofits to pick up some of the slack as science progresses.

“Community engagement and capacity building are as important today as they were back then,” she said. “We have greater opportunity to achieve more, more quickly, more effectively, and of course, more efficiently than we’ve done in the past.”

Some of the challenges currently faced by the rare disease community include access to funding for research, lack of scientific knowledge, and problems with data standardization and sharing, Gavin said.

When people think of starting a nonprofit, they often consider the business side first, said Colleen Brunetti, chair of the board of trustees for the Pulmonary Hypertension Association (PHA): “But what must come first is the heart and soul of it all — your ‘why’ for wanting to start a nonprofit — and maybe your ‘who,’ the person you love with a rare disease.”

PHA got its start in 1991 when four women with pulmonary hypertension (PH) connected around a kitchen table. They eventually established a medical board and spearheaded a conference in 1994, bringing together doctors and indirectly heralding the discovery of the first PH-associated gene, according to Brunetti, who is the second PH patient to chair the board of trustees. Both the board and the conference were revolutionary ideas at the time, but they proved successful and remain key components of the organization today.

Brunetti also pointed to other elements of PHA’s success, including finding new opportunities for engagement, encouraging new ideas and directions, and developing the talent of the people involved in the organization.

501(c)(3) status

A common theme throughout the webinar was the importance of attaining 501(c)(3) status.

The primary benefit of the designation is, of course, the tax incentives, but having a 501(c)(3) status can also give an organization a mark of legitimacy and transparency to potential donors, Gavin said. Ultimately, Brunetti added, authenticity matters.

Gavin spoke about the difficulties of raising money without first having the proper infrastructure and governance in place. Attaining 501(c)(3) status can be a critical step in this process. For example, in its third year as a 501(c)(3), PHA was able to raise more than $1 million, Brunetti said.

In addition, the designation can make it easier to support research and help lower the risk of early-stage therapy development, said Jessica Bohonowych, PhD, associate director of research programs at the Foundation for Prader-Willi Research. Companies will come and go, she added, but foundations tend to stick around for a lot longer and are driven by patients over corporate interests.

Patient registries

Patient registries can also play an important role in gathering data and advancing research. For example, PHA has launched a patient registry focused on collecting data to identify trends and patterns that may help determine the best treatments. The registry has enrolled more than 1,200 patients so far.

Bohonowych also spoke of her foundation’s Global PWS Registry, which was created in 2015 with the goal of capturing the high variability of Prader-Willi syndrome from patient to patient. She likens the community to a quilt and personal stories to patches.

“We want every single patchwork to be filled,” she said.

Prader-Willi syndrome is a rare genetic condition that affects the function of a brain area called the hypothalamus, responsible for regulating dozens of systems in the human body. While scientists have narrowed the genetic cause of the disease to chromosome 15, the pathway is not completely understood, and no cure exists.

The PWS registry also serves as a “matchmaking service” to help match patients to clinical trials for which they meet the eligibility criteria.

Now, in the fifth year of the registry, clinicians are using the database as a research tool, and sponsors have approached the foundation for long-term natural history studies, which follow a patient through the entire course of the disease. The foundation has also collaborated with Levo Therapeutics to build a survey on anxiety and distress as a secondary goal for a Phase 2 clinical trial.

It was a step-by-step process to get this far. In its first year, the foundation focused on sharing the data with its patients in the form of infographics and webinars. Once interest in the registry increased, clinics and researchers around the country began comparing their findings with existing patients.

Future goals include conducting whole genome sequencing, which could then be linked to registry data, developing a clinical portal, and using the registry for post-approval studies, once a therapy is approved.

More information

The first step to starting a nonprofit is to create a plan, and “this webinar series is a tremendous resource and a fantastic first step in that process,” Bohonowych said.

For those interested in learning more, registration is now open for RareLaunch’s more in-depth workshops, one on Dec. 2 about forming a foundation and another on Dec. 3 about being research-ready.