Rare Disease Day 2022: Supporting patients, celebrating advancements

21 November 2022

February 28 is Rare Disease Day, a day dear to the hearts of many at Labcorp. The day is observed to raise awareness and give support to the more than 300 million people worldwide living with rare diseases, as well as their family members and caretakers.

At the heart of Labcorp is our belief in harnessing science for human good—all human good. And that means bringing our passion, expertise and capabilities to bear for everyone—not only those living with the most prevalent diseases, but also those living with rare and often little understood diseases.

This Rare Disease Day, we reflect on the challenges faced by rare disease patients. We also acknowledge the tremendous efforts being made to improve their diagnosis and treatment.

Improving diagnostics for rare diseases

For so many living with rare diseases, it’s a challenge just to get a diagnosis. According to a 2019 survey of 1,108 people affected by rare disease, only 36% received a diagnosis within a year. 28% said it took more than seven years.

These lengthy journeys to diagnosis are often marked with misdiagnoses, a lack of convenient access to specialized care, and ineffective treatments. Worse still, every day without proper disease management can negatively impact disease progression.

Valerie Loik Ramey, senior genetic coordinator at Labcorp’s MNG Laboratories, knows firsthand how difficult uncertainty can be for rare disease sufferers and their families. Before her work at Labcorp, Ramey served as a genetic counselor for 23 years, most recently at Boston Children’s Hospital as part of the Clinical Genetics Team.

“As a provider, it was so heartbreaking to have to tell families time and again that the testing did not yield an answer,” Ramey says. “Thus their ability to gain further understanding and possibly treatment for their child was thwarted again.”

Fortunately, recent advancements in whole exome and whole genome testing are allowing for more comprehensive approaches to diagnosis of genetic conditions. Whole exome and genome testing, paired with technologies like predictive modeling, offer greatly increased ability to diagnose rare diseases, offering new hope to patients who have long searched for answers.

“Being able to give a diagnosis to a patient who has had hundreds of tests without an answer is really amazing,” she says. “I truly love seeing results come through the lab, knowing that some family may finally be getting some relief.”

Improving access to clinical trials

Improving diagnosis is only the first step. Once diagnosed, rare disease patients often find themselves with little in the way of next steps. Most of the more than 7,000 known rare diseases have no effective treatments.

And this problem does not have a simple solution.

To develop new treatments, clinical trials are required, and these trials require patients. Unfortunately, it can be difficult to connect patients with the right trials. Not only is it a challenge for drug developers to find and recruit the relatively few eligible patients, it is also a challenge for those with rare diseases to participate, when that will often require traveling long distances and missing work or school. Many with a rare disease have limited mobility or other issues that can further complicate trial participation.

That’s why it’s so important to increase the flexibility of clinical trials to meet rare disease patients where they live. At Labcorp, we offer decentralized clinical trials and mobile clinical services to connect patients to potentially life-saving research.

Susanne Schmidt, senior medical director for Labcorp Drug Development’s Rare Disease, Advanced Therapies and Pediatrics Team (RAPT), is one of many experts at Labcorp working to bring clinical trials within reach of rare disease patients.

“One of the most important things when conducting a rare disease study and advancing research is to collect data on outcomes that are meaningful to patients while doing it in a way that minimizes the burden of the patients participating,” Schmidt says. “We’re working closely with other groups within Labcorp on things like setting up new blood sampling methods that can be done in patient homes. We’re also working with our Decentralized Clinical Trials group (DCT) and Mobile Clinical Services group (MCS) so that patients don’t need to travel as often to the study site, which is often far from patients’ homes.”

We’re also working to leverage our wealth of diagnostic data and “voice of the patient” survey data to help inform better trial design and proactively connect patients with relevant clinical trials.

Developing better treatments for rare disease

Rare diseases often affect so few patients that it is difficult to rally the support and interest needed to develop effective treatments. It’s a painful reality for many with a rare disease who have spent years seeking diagnosis.

Tremendous advancements in cell and gene therapy have opened new possibilities for targeted treatment of many rare diseases, but biotechs and pharmaceutical companies still require a tremendous amount of support to develop treatments. Government grants and strong partnerships with full-service contract research organizations (CROs) like Labcorp are important to getting this support.

For example, we once supported the development of a treatment for rare retinal disorders. The project required a full complement of interconnected solutions, including clinical operations, vendor management, startup, medical monitoring, project management, regulatory, safety, biostatistics and data management. Improving the health and lives of rare disease patients is not possible without highly coordinated, collaborative efforts like these.

Labcorp Drug Development supported development of 13 of the 15 FDA-approved new molecular entities (NMEs) in 2021.

Let Labcorp be a partner in your rare disease journey

We remain dedicated to those living with rare disease, as well as their healthcare providers and caretakers. Are you looking for a clinical trial for a rare disease? Developing a rare disease treatment? Contact us and discover what’s possible.

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