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Home » Rare Diseases » Solving Rare Disease Challenges With a Patient-Focused Approach and Advanced Analytics

An estimated 25 to 30 million Americans have a rare disease, conditions that affect fewer than 200,000 people. Historically, it’s been challenging to research and develop treatments for these diseases but that’s changing.

Now experts are better able to collect and analyze patient-specific data.

“As the medical field looks at more narrowly defined patient populations,” says Glen de Vries, Medidata’s co-CEO and co-founder, “we need to develop better ways to measure as much about patients as possible.”

For over 20 years, Medidata, a Dassault Systèmes company, the most-used platform for clinical trials around the world, has powered tens of thousands of clinical trials, with millions of patients, and billions of patient records. 

Clinically meaningful results

Patient medical data used to be things like blood pressure and heart rate, but standard data sets aren’t enough anymore. 

Now, it also includes data derived from medical imaging and wearable devices. Rapid advancements in health technology have resulted in high volumes of data from multiple sources, including biological information known as “omic” data, including genomics and proteomics data.

Medidata is focused on capturing and analyzing that specialized data into their cloud-based platform, allowing for a more comprehensive look at rare disease patients.

“We’re in an exciting time of precision medicine and personalized medicine where the integration of specialized data, especially in rare diseases with high unmet clinical need, presents an incredible opportunity for patients, providers, and researchers,” says Sheila Diamond, MS, CGC, a board-certified genetic counselor who leads scientific business development at Acorn AI, a Medidata company. “Translating these data intoclinically meaningful results will provide new hope to patients.”

Experts like Diamond and her team are demonstrating how these health technologies can help guide clinical outcomes for patients.

One of Acorn AI’s research collaborators, David Fajgenbaum, M.D., is the co-founder and executive director of the Castleman Disease Collaborative Network (CDCN). Castleman disease is a rare, life-threatening inflammatory disorder in which the immune system attacks and shuts down the body’s vital organs.

Only 35 percent of Castleman disease patients respond to its FDA-approved drug. Medidata worked with the CDCN to perform a large omic study and identified a subgroup of patients showing a 3X higher response rate than other patients, results that will help clinicians better identify treatment options for their patients.

“We are transitioning to a new era of therapeutic innovation where we can detect diseases earlier and bring new treatments to patients with far more precision. Technology and data science are accelerating this transition” says Sastry Chilukuri, president of Acorn AI and EVP of Medidata.

Overcoming challenges

Two of the big challenges of working on rare diseases have been finding affected patients and engaging them in clinical trials. 

“Giving patients the ability to be active, engaged participants in their care and in their clinical trial journey is so important,” says Alicia Staley, the senior director of patient engagement for mHealth at Medidata.

Technology is helping. For example, while patient communities are often geographically dispersed, there are increasingly more opportunities to participate virtually in clinical trials. Continuing to improve technology and expanding access for more patients to participate in trials is a priority.

Staley, a three-time cancer survivor and advocate for improving patient access to clinical trials interfaces between the patient communities and Medidata’s patient-centric solutions. Staley brings the patient perspective as part of Medidata’s product design and development team.

“Medidata is increasingly providing patients the ability to participate in clinical research, on their terms, in ways the industry hasn’t really experienced before.” Providing the opportunities to participate in clinical research benefits not only the patient, but the entire ecosystem of care.


Helping patients with rare diseases will be a combination of biological science and digital technologies, which will be the basis for better drugs, and better medical devices. 

All of the stakeholders, including life science researchers and partners, as well as doctors and patient liaisons, are coming together in service of the patient.

De Vries, author of “The Patient Equation,” is excited about the future of therapies for treating rare diseases because they’ll be both for individuals and populations. 

“We need to think in more than one dimension, more than one disease at a time,” he says. “Collecting massive amounts of data can lead to the identification of new patterns, undiscovered relationships and new treatments.”

For more about Medidata’s work, visit

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