Patient-Centered Outcomes in Rare Diseases: Leveraging Digital Health Technology

Why Patient-Centered Outcomes Matter in Rare Disease Trials

Assessing patient-centered outcomes in rare diseases presents unique challenges, however, it is essential for understanding impact of treatment where standard endpoints fall short.

By definition, a rare disease affects a small population (fewer than 200,000 in the U.S.). Yet within that small group, individual experiences and treatment priorities can vary significantly. For example, in sickle cell disease, one individual may prioritize fewer pain episodes, while another's priority could be to prevent recurrent leg ulcers. These diverse experiences highlight the heterogeneity of rare diseases—and the challenge of capturing outcomes that truly reflect what matters most to patients.

Challenges in Clinical Outcome Assessment (COA) Strategy

Clinical teams working on rare disease trials often face:

• Small and geographically dispersed patient populations

• Variable symptom expression and disease progression

• Limited validated instruments for endpoint measurement

• High regulatory expectations for patient relevance and scientific rigor

Consequently, a traditional COA approach may fall short of capturing the most salient aspects of disease—making strategy and innovation essential in rare diseases.

How Digital Health Technology Is Changing the Game

Digital health tools are transforming how we measure outcomes in rare disease research:

• Wearables capture real-time activity of physiologic processes, including pain proxies, and sleep patterns

• Electronic Clinical Outcomes Assessments (eCOAs) and Ecological Momentary Assessments (EMAs) gather in-the-moment symptom reports via mobile apps

• Remote assessments through telehealth reduce patient burden and broaden reach

• Digital endpoints offer objective, continuous endpoints from everyday data

By integrating these tools into COA strategy, teams can generate more precise, patient-relevant data—often with lower burden and higher engagement.

Digital + Strategy = Measurable Patient Voice

Technology alone doesn’t solve the challenge. Successful implementation requires:

• Grounding technology in qualitative patient insights

• Mapping fit-for-purpose digital endpoints to study objectives

• Aligning strategy with regulatory recommendations and expectations

• Ensuring data integrity by optimizing compliance and maintaining audit trail

At Outcomes Services by HAIKO LLC, we work with sponsors to integrate digital health solutions into clinical trials in a way that’s both strategic and patient-centered. Whether developing endpoints for regulatory labeling or internal decision-making, we bring clarity to complexity.

Let’s Design Better COAs for Rare Diseases

We specialize in clinical outcome assessment strategy, digital tool integration, and rare disease expertise. If your team is navigating COA assessment with the aim of leveraging digital health tools, we are here to support:

👉 Book a consultation or email us at info@outcomesservices.com

Related Services

• Rare disease endpoint development

• eCOA and wearable selection

• Regulatory COA submission support

• Qualitative research and analysis