Smarter Drug Development for Rare Diseases

Patient-Centricity and Modern Technology
Usher in a New Approach to Drug Development 

By Maria-Cruz Morillo, Global Therapeutic Operations Lead, Rare Diseases 

Rare disease research faces unique challenges. Around the world, 400 million people suffer from as many as 7,000 distinct types of rare and genetic diseases. To find the treatment those individuals need, researchers and drug developers must overcome friction and delays in recruitment, study planning, site selection, budgets, and more.  

“The timeline for rare disease clinical durations can be as lengthy as 131 months,
an average of 68% longer than non-rare diseases.”  Source: Tufts CSDD Impact Report, July/August 2019 

Even with these challenges, experts recognize a new opportunity: a blend of patient input, clinician buy-in, and modern technology can be a trifecta, ushering in an age of smarter drug development for rare diseases. 

Patient Centricity and Supportive Data Collection Technologies 

At each stage of rare disease research, there are opportunities to leverage the three components above to refine processes and advance progress. 

Uncovering What is Important to Patients 

Regulatory agencies at the highest level are endorsing a patient-centric approach. The United State Food and Drug Administration (FDA) published new guidance for industry standards in a docket titled “Patient-Focused Drug Development: Methods to Identify What Is Important to Patients.”  

The docket delineates how all stakeholders — including researchers, medical product developers, and others — can and should collect and submit patient experience data, using this and other relevant information sourced from patients and caregivers in developing new products and making regulatory decisions. 

Tap Into Support Groups 

A preliminary step in rare disease research is the identification and input of key opinion leaders (KOLs). Due to the access afforded by technology, a further step that can enrich early research is to tap into support groups. These may include patient advocacy organizations, family support groups, along with patients’ families and caregivers.  This can be a strategy for locating potential study investigators and participants, as well as providing valuable input into research strategy, design, and planning.  

Conduct a Natural History Study 

Rare diseases may have little or no information on markers or predictors to assess disease progression or clinical significance. Also, many rare diseases have substantial heterogeneity, with several sub-types presenting a heterogeneous pathophysiology, symptoms, and progression.  

Natural history studies are one of the best tactics to ultimately help sponsors design and conduct clinical trials that support a marketing application however; natural history studies will not bring a short-term benefit to the participants, so lessening the burden to patients and families to facilitate enrollment and engagement is critical. A well-designed natural history study takes into account the input of KOLs, and support groups and listens to the voice of patients and their families. 

Selecting Countries and Sites 

A best practice is to begin the country or site selection processes based on disease epidemiology data. There may be endemic patterns or other population-related factors that, based on the disease’s genetic nature, inform site selection.  

Being both site-centric and patient-centric when deploying study strategy is vital. Research-naive sites will likely need additional support and training but can be highly motivated. The experience and even relationship-building abilities of the clinical team can be a powerful catalyst for progress at this juncture. 

Mapping the Patient Landscape 

Managing a patient landscape is far easier with technology, but for rare disease research, a hybrid approach is probably necessary. Your team can access global, relevant registries during early research but should also plan for additional manual investigation which may be needed.  

Fostering awareness, enrolling patients, and retaining patients are key activities that will impact the study. 

“Patient enrollment for rare disease trials is harder, but retention rates are higher.” Source: Tufts CSDD Impact Report, July/August 2019 

The quality and diligence of these efforts will result in a well-mapped patient landscape, which provides critical intelligence for decision-making. This is essential for efficient study initiation. 

Patient-Centric Support 

In rare disease research, study facilitators often find themselves working with pediatric populations or patients who have debilitating conditions; it is not only the patient but the whole family who will be involved. This makes it crucially important to proactively plan to be patient-centric. Dedicated vendors, trial-related expense reimbursement, logistical support for the patients’ and families’ need for remote travel and accommodation, and mechanisms for remote measurement will all make it easier for participants to join the study and stay in the study until its conclusion. 

Supportive Data Collection Technology Enhances Data Quality 

Rare disease study populations can be small, which makes it vital to employ exacting data practices. Every single patient and data point counts. Even one mistake could affect study success. 

Electronic patient data collection and patient-reported outcomes through wearables and electronic diaries make real-time data and remote monitoring possible. A solution that both improves the patient experience and ensures data reliability. These technologies should be calculated into the study cost, understanding that the benefits they provide yield dividends. 

In Summary 

The formula for success begins and ends with patient-centricity: 

  • Continuously consider how to make a study patient-centric 
  • Offer as much support as possible — financial, scheduling, logistical — to patients and/or families 
  • Offer expanded access to the study drug following your study 

These Principles in Action:
Planning a Clinical Trial in Rare Disease 

As many as one-third of products currently in the global research and development pipeline target treatments for rare disease indications. An experienced CRO employs rare disease teams to address previously unmet needs, starting with the inclusion of subject voices from the earliest planning stages of protocol design. A holistic planning approach identifies the main endpoints early on matching study endpoints for what is relevant to assess the progression of the disease, but also what is a meaningful clinical improvement for the families’ lives. 

In planning, it is helpful to gain insights from advocates, patient associations, and the patients themselves, and to thoughtfully integrate the voice of participants to improve the process. Consider leveraging technologies that offer patient-focused solutions to make the process easier on participants such as decentralized or hybrid design elements. This often means finding the right mix of virtual and in-person visits whilst providing dedicated, ongoing engagement. 

Comprehensive patient direct trial solutions include multiple features to satisfy patient, family, sites, and study needs:  

  • Telehealth capabilities to reduce the travel and time and help families carry on with their routine life while participating in a the clinical study;  
  • eCOA, ePRO, e-Diaries for remote data collection;  
  • Surveys and notifications to keep participants and caregivers engaged and also avoid missing data;  
  • Wearables sensors to ensure continuous and improve data collection;  
  • Remote study activities done through e-consenting, home nursing, drug supply provision/administration;  
  • Travel services to help and support the patients and their families for any traveling to the sites. 

Allucent’s Patient Direct Trial (PDT) solutions, powered by THREAD, support global scalability, trial flexibility, and patient accessibility. We leverage the right technology and holistic training processes to support study procedures that will boost the delivery of your clinical trial and keep everyone —  sponsors, investigators, patients, and families — connected and on the same page through coordinated training, systems, and ongoing live communication.  

These are just a few illustrations of the continuous efforts we are making to put the patient first. 

To learn more about our continuous efforts to put the patient first visit

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