December 3, 2021

Rare Disease Data Collection: Challenges and Alternatives

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Here's why we need to embrace new ways of collecting rare disease data.

We lock and unlock things every day without a second thought: doors, cars, smart phones, laptops — the list goes on. At AllStripes, our mission is to unlock new treatments for people affected by rare diseases. However, unlocking a treatment isn’t quite as simple as unlocking a house by inserting the key into the front door. Unlocking rare disease treatments requires a different type of key — data. 

One of the major barriers to rare disease drug development is a lack of data. Small patient populations spread across large geographic areas make traditional data collection methods, like on-site studies, difficult for patients and researchers alike. And without key data, rare disease treatments remain hidden behind locked doors. In this post, we discuss the challenges of rare disease data collection, explore alternative solutions and share data and insights from a research program we conducted to understand the geographic distribution and proximity to clinical studies of a multi-condition cohort of rare disease patients.

What makes study participation hard, especially for rare disease patients?

The location of patients can present serious challenges throughout the orphan drug development lifecycle. Natural history data, or data that show how a rare condition progresses without a treatment, are critical to understanding a disease and designing clinical trials to test new therapeutics that could potentially change the lives of those impacted by rare disease. But many natural history studies occur in-person and require significant time and resources to complete, both from patients and researchers. And while technology is making it easier to conduct decentralized studies of potential treatments, most clinical trials require patients to be on-site at some point during the study. 

Travel to and from a study site can be an especially difficult burden for patients with rare diseases, as patient populations are typically small and widely geographically dispersed. With these small patient populations, it can be challenging for clinical trial sponsors to determine the most convenient location for patients, thereby encouraging robust study enrollment and follow-through. An improved understanding of rare disease patient geography is critical to minimizing the burden of research participation on patients and families and, ultimately, to the success of any on-site observational or interventional trial. 

Where are the patients?

To better characterize the geographic distribution of participants in the AllStripes rare disease research platform, we analyzed geographic distribution data for more than 1200 research-consented patients across 36 rare conditions and three countries (US: n = 1126, 87.8%, Canada: n = 103, 8.0%, UK: n = 54, 4.2%). The majority of participating patients in the US live in urban areas (n = 944, 83.8%) while 15.1% (n = 170) reside in rural areas (Table 1). US patients are located in all four census regions, with the largest proportion of patients in the southern census region (Table 1, Figure 1). 

Figure 1: Geographic distribution of participants in the US and Canada
Table 1: Geographic distribution of US participants

We also examined the potential travel burden for these patients to participate in existing on-site research studies for their condition. To do this, we calculated the distance between patients’ home zipcodes and the nearest condition-specific interventional or observational clinical study site listed on Across 23 conditions with recruiting or not yet recruiting interventional studies, the overall median distance a patient would have to travel to a relevant interventional study site was approximately 326 miles. More than half of patients in the US lived at least 300 miles from an interventional study site, and, as anticipated, that distance was even higher for patients in Canada and the UK (median distance: US = 304.1 miles, CA = 394.6 miles, UK = 3,357.9 miles). Among US participants, there was no significant difference in distance to the closest interventional study site between residents of urban and rural areas (mean: 528.9 miles vs 453.1 miles, p = 0.2835), suggesting that both urban and rural patients face substantial geographic barriers to participating in interventional studies.  

Figure 2: Average shortest patient distance to study sites across 9 disease categories

How can drug developers make study participation easier for patients and their families?

It is clear that in-person study travel requirements can place a significant burden on patients and their families, potentially deterring patients from study enrollment and continued participation. While on-site studies are sometimes necessary, particularly for interventional trials, other data-collection methods can mitigate some of the challenges of in-person participation. 

Real-world data 

Real-world data (RWD), or data collected outside of a clinical trial, can supplement or replace data traditionally collected on-site throughout the drug development process. RWD sources including medical records, insurance claims, wearable devices and patient surveys can be used to characterize a disease’s natural history or enable non-traditional study designs, such as an external control arm in place of a traditional placebo cohort. When in-person visits are necessary, RWD can also be used to identify where patients receive care and which sites may be most convenient for potential trial participants, thereby minimizing patient and caregiver travel burden. 

Decentralized participation options

The COVID-19 pandemic has underscored the importance of possibilities for conducting trials remotely, allowing patients to participate in research largely without the burden of travel. For example, electronic consent, or eConsent, forms can be used to obtain research consent remotely, and electronic patient-reported outcomes (ePROs) can provide key insights into patient challenges, both without the need for in-person study site visits. Additionally, some data, such as blood samples, can be collected at local medical facilities and then shipped to a central location for standardized analysis. While some study designs are not conducive to remote participation, including decentralized participation options like these when possible can minimize travel burdens for patients and improve trial recruitment and retention. 

At AllStripes, we believe that data is the key to achieving a better understanding of rare diseases and ultimately unlocking effective treatments. By embracing RWD and providing patients and their families opportunities to actively participate in research remotely, we are continually collecting data that can be used to advance therapeutic development. 

To learn more about partnering with us, visit our life sciences page.

Note: This poster was originally presented at the NORD Breakthrough Summit on October 18 and 19, 2021. The poster was updated prior to publication on the AllStripes website on December 6, 2021.

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