NORD Breakthrough Summit 2024 Highlights

Some of the latest research on advancing rare disease management and treatment is being presented at this week’s NORD Breakthrough Summit in Washington, DC.

Conference organizers behind the National Organization for Rare Disorders, known as NORD, selected several abstracts as part of its oral Lightning Round Poster Presentations. Below are the highlights.

Building Community though Patient Partnerships

Two of the lightning round posters discussed patient community building in rare diseases.

Vladislav Kovalik, MD, MSPH, of Mercy Medical Center, Baltimore, discussed a poster on how to empower patient-funded research for rare cancers at community hospitals, which often struggle to obtain grant funding despite sometimes having high-volume clinical practice for managing rare cancers.

“We believe certain community hospitals may be suitable for patient-funded research programs,” Dr. Kovalik said.

Dr. Kovalik detailed how Mercy Hospital grew its research program over time, starting from two surgical oncologists, one physician assistant, eight patient survivors, and one surgeon’s small database, to what it is today with five principal investigators, three to five research fellows, more than 60 fundraising teams, and a database with more than 700 rare cancer case entries.

The program has launched 15 prospective studies, 10 collaborative projects, and published more than 90 manuscripts. Patient-funded research programs were successfully achieved through fundraising events and regular donations from teams led by survivors and supporters. The program has shown that fundraising is a feasible funding model for research at community hospitals.

Elise Hoover, MPH, of the Foundation for Sarcoidosis Research (FSR), and colleagues presented a poster on their study aimed at aiding industry in recruitment to clinical trials for sarcoidosis, a rare inflammatory disease characterized by the formation of granulomas in one or more organ of the body.

“This is a complicated disease with an urgent need for therapy,” Hoover said.

To do that, FSR partnered with industry and provided support services throughout the clinical trial process and recruitment phase. FSR SarConnect included patient advisory committees and focus groups, a patient registry, key opinion leader and potential trial site engagement, and targeted recruitment efforts.

According to Hoover, FSR-partnered sarcoidosis trials had a shorter trial duration compared with the average rare disease trial duration, and that led to cost savings. In November 2023, FSR hosted a focused workshop with leading experts to identify solutions for further overcoming barriers to sarcoidosis clinical trials.

Hoover encouraged the audience to remember that patient advocacy organizations are uniquely positioned to provide valuable services that will accelerate drug development for rare disease, and reminded them to “make sure you are valuing yourself as key thought partners.”

Rethinking Diversity in Research

In REthinking MeAsures of DivErsity (REMADE), Kelly McNeil-Posey, RN, MBA, of AstraZeneca Rare Disease, and colleagues sought to develop a set of questions to more accurately capture the diversity of patients being approached for inclusion in clinical trials. The study included patients aged 18 to 30 years who first completed a presurvey intake form (PSIF) with questions regarding race and then the REMADE survey, which allowed respondents to assign percentages across multiple categories.

Using the PSIF, 77.3% of participants identified as Black or African American, 19% as white, 0.5% as Asian, and 2.4% as American Indian or Alaska Native. However, using the REMADE survey, 59.6% identified as Black or African American, 23.7% as white, 5.9% as American Indian or Alaska Native, 3.9% as Asian, and 3.6% as Native Hawaiian or other Pacific Islander.

“We all want to be included so we have to consistently decide what questions we are going to ask so that no one is left behind,” McNeil-Posey said.

Improving Training from Medical School Onward

Aleksandra Foksinska, MS, University of Alabama at Birmingham, presented a poster detailing SUPREME, an immersive research experience in precision and genomic medicine. This research experience occurs during the summer after a medical student’s first year of medical school. Students are paired with a family and over an 8-week period they get to know a particular patient who is affected by a rare genetic disorder.

Students learn to interpret a genetic report, conduct a literature review and medical record review, and are introduced to an artificial intelligence program that helps them learn to think critically about drug repurposing strategies that could address disease mechanisms.

“They acquire crucial skills not just specific to the rare disorder they are studying for the participant, but are applicable to any other problem-solving situation in medicine,” Foksinska said. “At the end of the program we see significant increases in students’ confidence in their knowledge of rare diseases.”

Expanding Access for Rett Syndrome Care

Katie Kowalski, MPH, NORD’s associate director of education, presented a poster discussing efforts to tackle care deserts in the treatment of Rett syndrome. These efforts included continuing medical education that was delivered by leading experts from centers of excellence, but pushed out into the community.

“The education was aimed at improving the ability to diagnosis [Rett syndrome], teaching about newly available therapies, and encouraging greater collaboration,” Kowalski said.

As of August 2024, there have been 2,300 participants; 74% of participants are neurologists and about 56 were from identified care deserts. Kowalski said there was a marked improvement in pre- and post- knowledge of Rett syndrome, and about 79% of physicians said they intend to change their clinical practice based on the education.

Ongoing education will address gaps related to treatment integration and the development of local multidisciplinary teams.

Innovative Research on Propionic Acidemia

Finally, Geetanjoli Banerjee, PhD, MPH, of Moderna, presented a poster of the first claims data analysis to assess the burden of propionic acidemia (PA) with a focus on metabolic decompensation events (MDEs).

The retrospective study included patients with PA with or without MDEs and a group of matched control subjects without PA from a large insurance claims database. Of the 191 patients with PA, 31.4% had MDEs, a rate that is consistent with the existing literature. These patients experienced about one MDE per year.

Compared with those without MDEs, patients with MDE had a higher clinical burden as measured by comorbidities, healthcare utilization, higher medication burden, and increased medical procedures. Additionally, younger patients with PA had a greater disease burden compared with older patients. Regardless of MDEs, patients with PA had an increased clinical burden compared with controls.

“Findings from the study highlight the urgent need for therapies that can effectively reduce acute MDEs and chronic PA symptoms for patients with PA, thereby alleviating the high burden associated with this population,” Dr. Banerjee said.