Rare diseases place a significant burden on the millions of patients around the globe that live with their diagnoses. In fact, according to a study commissioned by the EveryLife Foundation, the economic burden for rare conditions is up to five times greater than the cost for people without a rare disease.
However, a recent report from rare-disease nonprofit Global Genes indicates there may be hope:
- About 84% percent of all drugs approved under the US Food and Drug Administration’s (FDA’s) accelerated assessment program between 2015 and 2020 had orphan designations; 27% percent of orphan drugs that landed approval during that stretch did so through the accelerated approval pathway.
- Investment in drug development involving rare diseases hit a high note in 2021—$22.9b USD, a 28% year-over-year increase
During Outsourcing-Pharma’s recent Rare and Orphan Diseases webinar, a trio of industry figures shared their knowledge and perspective on the topic. These experts offered insights and perspectives about the state of the field, and thoughts on the future.
Craig Martin, CEO, Global Genes
Martin said even though rare diseases impact a significant portion of the population, more needs to be done to offer treatments for the conditions.
“If you step back and look collectively at the impact of rare diseases, it’s arguably clear that they represent the largest area of unmet need, globally,” he noted. "They affect, by some accounts, 400m people, maybe more; there are more than 8,000 distinct conditions, and that number continues to grow; less than 5% of those have treatments.”
Martin pointed out that rare diseases also tend to impact a certain portion of the population disproportionately: children.
“More than 50% of rare disease patients are children, and about a third of those will die by the age of five,” he said.
However, there is hope, Martin pointed out. The majority of rare diseases are genetic, so the recent and continuing advancement in gene therapy, gene editing, and other biotechnologies are good news for rare disease patients and their allies.
Global Genes contributes to the battle against rare disease, Martin said, by helping rare disease communities stand up, move forward, and make connections.
“We work with everyone from individual caregivers and patients with rare diseases who are trying to get a diagnosis or may have just gotten the diagnosis, and they're trying to learn about their disease,” Martin noted. “We really try and figure out what the needs are all along that continuum, and connect individuals and communities to resources and expertise and support services that can help them.”
John A. Phillips, David T Karzon Professor of Pediatrics, Vanderbilt University Medical Center
Phillips is a renowned researcher and physician whose work includes serving as the TN State Genetics Center at Vanderbilt for 33 years. He also contributes to the work of the Undiagnosed Diseases Network (UDN), which seeks to provide patients and their caregivers with elusive answers to their conditions.
According to Phillips, the UDN often serves as a resource when a patient’s caregiver is at a loss.
“Say, here’s a little girl who is seriously ill, and here’s her distraught mother and father,” Phillips said. “They have called in a specialist to identify the problem and, perhaps, a treatment for it.”
In this theoretical puzzle, the specialist, scratching his head, thinks of the rapidly increasing number of diseases and wonders if one of those might be the elusive culprit—and the UDN might be able to help him connect his special patient with a solution.
“The goals of the UDN are to improve the level of diagnosis and care for patients with undiagnosed diseases, to facilitate research on undiagnosed diseases, and to collaborate to create a collaborative and integrated research community to identify improve options for patients,” he said.
The first step, Phillips said, is to collect information, review patient records, and pinpoint significant findings. Then, the team performs whole-exome sequencing and forms a genetic analysis. After that, a team of specialized experts puts their heads together, performs “clinical trial and error,” and further analyzes the data. Each patient and their respective condition is unique, Phillips points out, so the path to each solution is different and complex.
“’Diagnosis’ in Greek denotes ‘to see through confusion,’ so we are to see what’s on the other side,” Phillips said, adding a quote by physicist Martin Fisher: “Diagnosis is not the end, but the beginning of practice.”
Gunnar Esiason, executive vice president of strategy and advocacy, Boomer Esiason Foundation
Diagnosed with cystic fibrosis as a small child, he has leveraged his experience and deep knowledge of the disease into a career advocating for CF patients, building awareness, and leading the Boomer Esiason Foundation's fundraising efforts, which to date have funneled more than $160m USD into solutions for CF.
Despite the challenges of living with the diagnosis, Esiason managed to be an active child, playing three sports in high school, including football. A few scary incidents motivated Esiason, his parents, and his physicians to take an aggressive approach to treatment, which led to him reluctantly bringing his football playing days to an end.
Like many CF patients, Esiason has experience as a clinical trial patient. In 2013, he had the opportunity to enroll in a study that offered hope, but also a significant amount of stress.
“In the months leading up to it, I remember throwing everything that we had at CF—antibiotics, courses of IV therapy, different inhaled therapies, and additional physical therapies, to get myself to a point where I could be stable enough to make it difficult to trial,” he related.
While the drug ended up not being appropriate for his specific situation, Esiason said, he learned a great deal.
“You're not really given the liberty to say ‘no’ to a clinical research opportunity,” he commented. “If too many people say no, you can't get clinical research off the ground.”
Also, during that and a subsequent trial, Esiason found that life as a patient participant can be challenging and confusing, exacerbated in part by study teams that didn’t understand the impact on a patient.
“There were requirements to fill out tons of surveys, journal, and do all these different things that really ate away at my time, and I didn't really get the impression that investigators understood that I also had three hours of treatments to do every single day,” he remarked. “It's important to actually ask patients what these trials should look like, especially those of us with declining physical health."
Esiason points out that while he found his experience as a patient participant rewarding, the process could benefit everyone involved with thoughtful change: “Clinical trials have to be informed by the patients that are in them, and by people who know exactly what it's like to live with CF.”
One change, Esiason said, is the increased prevalence of telehealth and other digital solutions that help cut down the need for clinic visits and travel.
The Rare and Orphan Diseases webinar is available to view on demand. Visit the event page for more information or to access the online event.
