Capturing Real World Rare Disease Patient Journeys Are Current

Rationale: Despite growing emphasis among healthcare decision-makers on patient perspectives and real-world outcomes to inform care and access decisions, understanding of patient journey experiences in rare diseases remains limited due to data collection and... Aims and objectives: This systematic literature review (SLR) assessed study designs, methodologies, and outcomes reported in real-world investigations of rare disease patient journeys. Methods: Searches in PubMed and Google Scholar targeted English-language publications and congress proceedings from 1 January 2014, to 30 April 2024, including rare disease patients, caregivers, or healthcare providers. Keywords included 'Journey', 'Path', or 'Odyssey'. Two reviewers independently assessed eligibility and abstracted data. Descriptive analyses and quality assessments were conducted.

Results: Thirty-one studies met inclusion criteria, with 296,548 participants spanning over 600 rare diseases. Most studies used prospective observational (61%) and cross-sectional (84%) designs and were conducted in Europe (45%). Interviews (39%) and surveys (29%) were common methodologies. Patients (87%) were the primary research focus, compared to caregivers (32%) or providers (10%). The most studied journey stages were 'Pre-diagnosis/Screening' (97%) and 'Diagnosis' (84%), while 'Disease Awareness' (16%) and 'Treatment Adherence' (6%) were less common. Across 164 outcomes reported, frequent outcomes included 'Healthcare Resource Utilization' (94%), 'Symptoms' (74%), and 'Time-to-Diagnosis' (71%).

Fewer studies reported 'Costs' (19%), 'Caregiver/Family Burden' (16%), and 'Productivity' (13%). Time-to-diagnosis averaged 11.8 years and a median of 6.1 years. All but one study (97%) was rated low or very low quality due to observational designs. Conclusion: Most rare disease patient journey evidence focuses on 'Pre-diagnosis/Screening' and 'Diagnosis' stages using qualitative methods and surveys. While symptoms, time-to-diagnosis, and resource utilization were commonly reported, evidence gaps included treatment adherence, caregiver burden and productivity. Longitudinal assessments to collect real-world care and treatment burden outcomes, including caregiver perspectives, can enhance both clinician and policy decision-making for individuals living with rare diseases.

Are we fully capturing the rare disease patient experience? Much of rare disease research focuses on getting to a diagnosis, but what happens after that? Adherence, long-term outcomes, and caregiver impact are often overlooked—leaving gaps in real-world data. These gaps have real implications for market access—undermining value assessments and influencing payer decisions. I’m proud to have led Alkemi’s latest research, published in the Journal of Evaluation in Clinical Practice, which explores these missing pieces. If we want better access, we need better evidence.

It’s time to see the whole picture—not just the diagnosis. I hope this research sparks important conversations on how we improve data collection in rare disease. Co-authors: -Lucas Blackmore, MPH -Asia Banks, M.S., PharmDc -Dasol Kim -Betsy J. Lahue Read the full study here: https://lnkd.in/etFtwkpf Thank you Kristen for your leadership and dedication. It’s what made this research a reality.

Work like this sheds light on rare disease experiences and helps improve patient outcomes. I’m grateful for the opportunity to work on this together and look forward to supporting you in future research! While each rare disease individually impacts only 200,000 people or less, with 7,000 known rare diseases, 30 million Americans, or 1 in 10 people, suffer from a rare condition.1 Half of those are children,... Passage of the Orphan Drug Act (ODA) in 1983 to incentivize development of treatments for rare diseases has led to over 600 orphan drugs being approved, compared to just 10 the decade prior to... The inherent small population of patients with a particular rare disease makes them difficult to find and recruit for clinical trials. This is further exacerbated by the fact that people with rare diseases are often misdiagnosed or under diagnosed.

On average, it takes seven years or more for someone to receive an accurate rare disease diagnosis.1 This in turn means not as much is known about these complex diseases and their natural history. There is scarce medical literature and physicians aren’t as familiar with the conditions. Many of the diseases have no known cause, have multiple interrelated causes or were only just identified as being a rare disease. There is also a lack of diagnosis codes for rare diseases, with only approximately 500 of the 7,000 known rare diseases having proper codes, making it even harder to find patients to study. Along the rare disease patient’s long and arduous path to diagnosis, there will have been numerous doctor’s visits, medical procedures, hospital stays, lab tests and prescriptions.

Accurately linking all of those real-world interactions across the various siloed data sources can reveal the rare disease patient journey, helping to identify patients, better understand the disease and accelerate development of treatments.HealthVerity uses... Researchers can even link their primary study data to these other sources. Within HealthVerity Marketplace, our vast healthcare and consumer data ecosystem consisting of over 75 unique data sources representing more than 330 million patients and 150 billion de-identified transactions, you can type the name of... By selecting the areas of interest, you can build a custom cohort that instantly tells you how many patients it includes and where there is overlap. Then you can license only the data you want and apply it to a variety of use cases: Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications.

Catch up on the latest RDCRN research below. Listen to these summaries on the Rare Research Report podcast. Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. Patients with rare diseases like HHT are more likely to experience increased health outcome disparities due to inequitable healthcare. In this study, researchers assessed disparities in access to clinical care and research for patients with HHT. First, the team collected race data from BVMC study recruits at HHT clinics in Toronto and San Francisco.

Next, they compared the racial differences between HHT patients recruited for research and HHT patients in the general population. Results reveal preliminary evidence of racial differences between HHT center clinic patients and surrounding populations. Findings also show an association between race and enrollment to HHT research studies. Authors note that this study lays the foundation for beginning to address disparities in HHT care and research.

People Also Search

• Capturing Real-World Rare Disease Patient Journeys: Are Current ...
• PDF Capturing real-world rare disease patient
• Capturing Real‐World Rare Disease Patient Journeys: Are Current ...
• MSR19 Capturing Real-World Rare Disease Patient Journeys: Are Current ...
• PDF Why is Real World Data the Key to Rare Disease Success?
• Rare Disease Patient Journey: Opportunities for Improved Care - BioNews
• The Path Forward: Revealing the Rare Disease Patient Journey
• Rare Research Report: November 2025 | Rare Diseases Clinical Research ...
• Correction to "Capturing Real-World Rare Disease Patient Journeys: Are ...