Why 2020 Was a Banner Year for Rare Diseases

As unlikely as it may seem, 2020 was a promising and successful year, by at least one measure. Even as a single infection disrupted life across the planet, new evidence of progress emerged in the fight against the multitude of rare diseases. 

Over last year, the FDA approved 32 novel drugs and biologics with orphan drug designation. And many more appear to be on the way. At the same time, the agency received 753 requests to designate experimental drugs as having orphan status — a 41 percent increase from 2019. 

Far from their origins as orphan diseases, rare conditions are now the focus of considerable effort. Technological advancements, including a growing number of cell and gene therapies and the deployment of artificial intelligence to improve clinical trials, suggest the progress of 2020 is likely the tip of the iceberg. Meanwhile, a new focus on patients, their needs and their experiences, is addressing long-standing difficulties and opening new doors for rare disease research. 

Gathering momentum

The long list of orphan drugs approved in 2020 includes a form of CAR-T therapy,1 which relies on genetically altering a patient’s T cells to treat adults with a type of blood cancer known as mantle cell lymphoma.  

CAR-T is among a growing contingent of cell and gene therapies developed to treat rare diseases. These therapies capitalize on the increasing understanding of the mutations and mechanisms underlying rare conditions, and their numbers are expected to grow. In 2019, the FDA announced that it was seeing a surge in cell and gene therapy products entering early development. By 2025, the agency predicted it will approve between 10 and 20 such products each year. 

Meanwhile, companies are exploring ways to use AI to make drug development more efficient. For example, Jeeva Informatics Solutions is developing a decentralized platform that moves the complete clinical trial process, from prescreening participants to collecting data, onto an app, through which researchers and patients interact. By using AI to optimize trials in real time, the developers are working to accelerate timelines, decrease attrition, and improve the experience of participating.

Patients first

Rare disease trials face a familiar challenge: small, often hard-to-reach patient populations, leading to difficulties with recruitment and accounting for variation in disease. However, the emerging patient-focused approach to drug development can mitigate these issues.   

Perhaps most importantly, this approach seeks to make it easy for patients to enroll and participate in clinical trials. Mobile sample collection, for example, not only eliminates patients’ travel burden, but makes enrollment feasible for those without reliable access to transportation. 

A patient-focused approach also solicits and values patients’ preferences and input,4 treating them like the disease experts they are.

Data collected as part of this effort can take a number of forms including: 

  • one-on-one interviews
  • focus groups
  • surveys that collect quantifiable feedback
  • a mix of qualitative and quantitative methods 

When planning a strategy for collecting patient-focused data, there’s a lot to consider. First, you will need to formulate specific research objectives. With these in mind, you can define your target population, and then determine your study design and the most appropriate method for collecting data. 

You may also need to consider how you will take factors of importance to patients into account when assessing clinical benefit, and how to incorporate these assessments in end points important for regulatory approval. 

The FDA has issued some nonbinding guidance on the topic, with more to follow. In a statement, Commissioner Scott Gottlieb noted, “We learn through scientific advances, but also by listening to patients.”

While last year has brought reasons for optimism, it’s important to keep in mind that much remains to be done. Of the roughly 7,000 known rare diseases, less than 10 percent have an approved treatment, according to the agency. 


[1] US Food and Drug Administration. Rare Disease Day 2021: FDA Shows Sustained Support of Rare Disease Product Development During the Public Health Emergency. Available at https://www.fda.gov/news-events/fda-voices/rare-disease-day-2021-fda-shows-sustained-support-rare-disease-product-development-during-public. Accessed 10/1/21

[2]  US Food and Drug Administration. Statement from FDA Commissioner Scott Gottlieb, M.D. and Peter Marks, M.D., Ph.D., Director of the Center for Biologics Evaluation and Research on new policies to advance development of safe and effective cell and gene therapies. Available at https://www.fda.gov/news-events/press-announcements/statement-fda-commissioner-scott-gottlieb-md-and-peter-marks-md-phd-director-center-biologics. Accessed 10/1/21

[3] Sanguine Biosciences. AI and Digital Health Accelerating Rare Disease Clinical Research Powered by Patients. Available at https://researcher.sanguinebio.com/event/ai-and-digital-health-accelerating-rare-disease-clinical-research-powered-by-patients/. Accessed 10/1/21

[4]  US Food and Drug Administration. CDER Patient-Focused Drug Development. Available at https://www.fda.gov/drugs/development-approval-process-drugs/cder-patient-focused-drug-development. Accessed 10/1/21

[5] US Food and Drug Administration. Patient-Focused Drug Development: Methods to Identify What Is

Important to Patients. Available at https://www.fda.gov/media/131230/download. Accessed 10/1/21

[6] US Food and Drug Administration. Patient-Focused Drug Development: Collecting Comprehensive and Representative Input. Available at https://www.fda.gov/media/139088/download. Accessed 10/1/21

[7] US Food and Drug Administration. FDA Patient-Focused Drug Development Guidance Series for Enhancing the Incorporation of the Patient’s Voice in Medical Product Development and Regulatory Decision Making. Available at https://www.fda.gov/drugs/development-approval-process-drugs/fda-patient-focused-drug-development-guidance-series-enhancing-incorporation-patients-voice-medical. Accessed 10/1/21