Shortening the Path to Rare Disease Diagnosis with a Patient-Centric Approach

Collectively, rare diseases are not so rare. They affect as many as one in 13 people, according to Mayo Clinic. With up to 8,000 rare diseases in the world, the criteria for their classification vary. In the US, a rare disease affects fewer than 200,000 people in total.

Key Highlights

Many rare disease patients struggle for years before they know what their symptoms indicate, and even longer to find a meaningful treatment. Learn more about the importance of receiving an early diagnosis and a patient-centric approach to treating rare disease patient communities.

PRA Health Sciences
PRA Health Sciences

Undiagnosed Rare Disease Day recognizes the challenges rare disease patients face when seeking a diagnosis. One of the first challenges rare disease patients face is receiving an accurate diagnosis. Many rare disease patients struggle for years before they know what their symptoms indicate, and even longer to find a meaningful treatment.

Getting a Rare Disease Diagnosis

Rare diseases can take several years to diagnose. That includes an average of four primary care doctor visits, four specialist visits, and two or three misdiagnoses before they receive an accurate diagnosis. When misdiagnosed, not only are patients not receiving the care they need, sometimes they are taking medications that will not be able to provide treatment. At present, 90-95% of rare diseases have no approved medication. That makes researching new treatments and causes of disease even more critical.

However, in finding the correct diagnosis, the process involves using more resources for patients. It requires more tests, further travel to specialists, and associated mental health services, as the odyssey to diagnosis can lead to stress, anxiety, and depression.

Having a rare disease involves more than regular office visits. It also requires extra resources from the patient family, extra resources from the healthcare system, tireless efforts by patient advocacy organizations to raise awareness of the rare disease and serve as an expert resource to drug developers.

For each rare disease, it’s first essential to understand the expected disease course, the natural history for that specific rare disease. Only once that is understood can drug developers know how to plan a clinical trial with experimental medicine. It also requires drug developers to partner with the patient communities, in order to de-risk their clinical development programs and bring forward the treatments patients need. All of this, though, relies on patients receiving an accurate diagnosis.

It’s crucial to learn more about different diseases and discover new drugs and therapies to center patients living with these diseases, understand their needs, and work with them to find the correct diagnosis so that we can bring them helpful solutions.

Learn more about how PRA is creating patient-centric solutions for rare diseases

Where Do Biomarkers Come In?

Over 80% of rare diseases are genetic. For some rare diseases, a suspected diagnosis can be confirmed through genetic testing. In many cases, proteins and metabolites in the patient’s blood can show us progression of disease or how treatments affect patients.

Juliane Mills, Director within PRA’s Center for Rare Diseases, says, “Biomarkers open doors for better prognostic and treatment approaches, and can point to endpoints important to assess clinical benefit.”

New technology impacts how we use biomarkers, like with next generation sequencing (NGS) technology. Very sensitive and specific DNA sequencing technology gives us greater confidence in the data collected. Likewise, metabolomics, a more recent area of omics, shows results of metabolic processes related to molecules like amino acids, lipids, and carbohydrates. These factors indicate the biochemistry related to the disease as the endpoints for biochemical reactions.

How Evolving Research Opens Patient Opportunities

As we learn more about diagnosing rare diseases, we also open opportunities for patients to participate in studies for these diseases. Many people with undiagnosed rare diseases can’t participate in trials because they don’t know they have the disease for which the trial is being conducted. The faster they get a diagnosis, the sooner clinical research can truly become a care option for them.

According to a 2018 study from China, the most significant cause of rare disease misdiagnosis is a lack of information on rare diseases. The study showed no correlation between misdiagnosis and age, gender, ethnicity, education, or location. Above all, we need data and information available to more people by spreading awareness and resources.

In the past five years, PRA’s Center for Rare Diseases helped to implement over 300 rare disease studies and has contributed to 24 drugs marketed for rare diseases. Having treated over 54,000 rare disease patients at 14,000+ clinical trial sites, and with offices in more than 80 countries globally, we have the tools and technology necessary to involve more patients in clinical trials while continuing to innovate using remote and on-site technology.

PRA’s Center for Rare Diseases remains dedicated to bringing meaningful treatments to rare disease patient communities. We know from extensive experience that partnering with patients and their advocates in the drug development process is the most effective way to reduce timelines.

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