Home Insights Innovations in diagnosis and care for rare diseases

Innovations in diagnosis and care for rare diseases

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Rare diseases cast a far-reaching shadow across the global landscape. Unlike the name suggests, they have a significant and widely felt impact on those living with the conditions, their loved ones, and even healthcare systems.

Advances in research and innovation coupled with the drive to improve the diagnosis and care for these patients, are resulting in groundbreaking treatment advances. Although this treatment progress is promising, there are still major obstacles that people living with rare diseases face when navigating the healthcare system.

Solving the diagnosis dilemma

One of the biggest issues with rare diseases is effectively detecting and accurately diagnosing the condition. Late detection or a misdiagnosis can seriously derail the trajectory of a patient’s treatment and well-being.

Unfortunately, sub-optimal diagnosis and care pathways are relatively common, with 28% of respondents in the 2019 National Organization for Rare Disorders (NORD®) survey saying that they waited seven or more years to receive their diagnosis [1]. This is due to:

  • Lack of familiarity with rare diseases: There is a lack of healthcare providers (HCPs) familiar with specific rare diseases, which can lead patients to go without diagnosis or treatment while they seek out specialists with rare disease knowledge
  • Difficulty in pinpointing symptoms to specific diseases: Rare diseases often have a myriad of shared characteristics with other conditions that can result in misdiagnosis followed by treatment with ineffective or even dangerous medication
  • Limited rare disease centers: As rare diseases affect a smaller proportion of people than other more common diseases, there are a limited number of centers of excellence for rare diseases to cater to specialized patient needs. This is needed as rare diseases often affect various bodily systems and are often chronic, necessitating the expertise of a multidisciplinary team and extended specialist care to ensure optimal treatment

Directly addressing these issues will alleviate the emotional and financial strain involved in diagnosing rare diseases and, in numerous instances, accelerate the availability and improve the effectiveness of treatment.

Shifting to patient-centered care

Even after receiving a definitive diagnosis, families often encounter the added hurdle of navigating an array of complex care requirements [2]. There is subsequently an overall shift toward patient-centered care coordination to tackle these obstacles head-on [2, 3].

Part of this shift includes the services of care coordinators. Engaging the services of a dedicated care coordinator can alleviate family burden, facilitate prompt care delivery, and enhance communication between medical professionals and families [2-4].

However, the formal implementation of care coordination, designed to shepherd families through the intricate treatment journey, remains an unmet necessity for many. This unfulfilled need continues to take precedence within the agenda of numerous rare disease patient advocacy groups [4].

These services are further supported by the increasing extension of newborn and prenatal screening, which is a pivotal instrument enabling swifter intervention and improving outcomes [5-8].

Embracing digital healthcare

The pursuit to improve healthcare has allowed technology to take center stage in rare disease management. Digital health broadly encompasses everything from [9]:

  • Electronic healthcare records (EHRs): These can store comprehensive patient medical histories, facilitating seamless information sharing among healthcare providers, ensuring accurate diagnoses, and enabling tailored treatment plans for rare disease patients.
  • Patient portals: Providing patients with access to their medical records, test results, and treatment plans, patient portals foster engagement and collaboration between patients and medical professionals, crucial for informed decision-making in the management of rare diseases.
  • State-of-the-art mobile applications that monitor and track symptoms: Mobile apps allow rare disease patients to log and monitor their symptoms in real-time, providing valuable data insights to medical practitioners for timely adjustments to treatment strategies.
  • Remote monitoring through wearable devices: Wearable devices equipped with sensors can remotely track vital signs, physiological indicators, and other relevant data, granting healthcare providers continuous insights into a rare disease patient’s well-being without requiring frequent in-person visits.
  • Telehealth consultations: This technology ensures timely access to expert advice, reducing the challenges of travel and enabling ongoing care.
  • Digital health platforms to transcend geographical barriers: These platforms provide rare disease patients with access to global networks of medical expertise, irrespective of their physical location.

Other digital solutions arise from the use of artificial intelligence (AI)-based algorithms to scan and analyze centralized EHRs. This can find patterns consistent with a particular rare disease diagnosis [10-12].

Incorporating these algorithms into clinical practice could help shorten the diagnosis journey, prevent misdiagnosis, or alert clinicians unfamiliar with a particular disease to a potential diagnosis.

The advantages of the digital age are granting patients unprecedented access to care, alongside tracking of symptoms and real-time measurement of drug outcomes [13].

This dynamic digital transformation extends beyond mere convenience, as it encompasses the broader digitalization of data which informs clinician decision-making and fosters proactive patient involvement throughout their treatment voyage.

Revolutionizing clinical trials for rare diseases through patient engagement

Patient engagement is transforming the landscape of drug development, particularly in designing clinical trials for rare diseases. Aside from general clinical trial design challenges, there are those unique to rare disease trials — these all affect patient recruitment and retention and include:

  • Small patient populations
  • Geographical dispersion
  • Patients’ and caregivers’ time and travel constraints [14]

These barriers are being met with innovative strategies. Prioritizing patient experiences and their unmet needs holds the potential to mitigate these hurdles and create more relevant and feasible clinical trials.

Traditional trial paradigms are evolving, incorporating decentralization and digital tools to allow for assessments to occur at local clinics, patient’s homes, or through digital devices. This vastly improves accessibility for patients with rare diseases, particularly for families burdened by travel costs. Furthermore, decentralized clinical trials that use telehealth virtual visits and digital assessments via wearable devices or mobile applications may capture data that provide a more holistic understanding of patient experiences and outcomes in real-world settings.

Recent data suggest that remote, digital assessments can produce reliable and clinically valid data in rare disease studies that are needed for trial results with solid outcomes [13, 15].

Empowering the patient voice

Patient engagement initiatives gather insights from patients and caregivers to inform the selection of those involved in trials and the interpretation of final outcomes.

This is especially important for the development of patient-reported outcome measures (PROMs), where patients offer context for treatment expectations, allowing for more nuanced measurements than clinician ratings. However, disease-specific PROMs for rare diseases are often lacking, warranting more work to be done in this area [16].

Bringing patient voices into drug development for rare diseases will make clinical trial designs more patient-centered and the findings more accurate and representative of the patient populations. This ultimately gives a better representation of the therapeutic effect of the treatment and benefits everyone involved.

The transformative effect of patient-centric innovation

In the evolving landscape of rare disease drug development, patient engagement stands as a transformative force, reshaping how we approach clinical trials and evaluate their outcomes.

Through amplification of the patient’s voice, the intricate and distinctive obstacles that characterize rare diseases are being tackled head-on. This is fostering the creation of clinical trials that are not only more accessible but also deeply relevant and effective.

As these patient-centered innovations continue to progress, the potential for rare disease advancements is increasing accordingly with better care pathways for people living with rare diseases.


  1. The National Organization for Rare Disorders. Barriers to rare disease diagnosis care and treatment in the US: a 30-Year comparative analysis (2020). Available at: https://rarediseases.org/wp-content/uploads/2022/10/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf
  2. Rare Disease UK. The rare reality—an insight into the patient and family experience of rare disease (2016). Available at: https://www.raredisease.org.uk/media/2361/patient-experiences-2015.pdf.
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  7. Rosenfeld M, Ostrenga J, Cromwell E, et al. Real-world associations of US cystic fibrosis newborn screening programs with nutritional and pulmonary outcomes. JAMA Pediatr. 2022;176(10):990-999. doi: 10.1001/jamapediatrics.2022.2674
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  9. The US Food and Drug Administration. What is digital health (2020)? Available at: https://www.fda.gov/medical-devices/digital-health-center-excellence/what-digital-health.
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  11. Penn Medicine News. Researchers aim to use AI to predict rare diseases (2022). Available at: https://www.pennmedicine.org/news/news-releases/2022/september/researchers-aim-to-use-ai-to-predict-rare-diseases.
  12. Hens D, Wyers L, Claeys K, et al. Validation of an Artificial Intelligence driven framework to automatically detect red flag symptoms in screening for rare diseases in electronic health records: hereditary transthyretin amyloidosis polyneuropathy as a key example. J Peripher Nerv Syst. 2022. Online ahead of print. doi: 10.1111/jns.12523
  13. Servais L, Camino E, Clement A, et al. First regulatory qualification of a novel digital endpoint in Duchenne muscular dystrophy: a multi-stakeholder perspective on the impact for patients and for drug development in neuromuscular diseases. Digit Biomark. 2021;5(2):183-190. doi:10.1159/000517411
  14. Winter E, Schliebner S. Current advances in clinical trials for rare disease populations: spotlight on the patient. Curr Rev Clin Exp Pharmacol. 2022;17(1):39-45. doi:10.2174/1574884716666210316120615
  15. Lipsmeier F, Simillion C, Bamdadian A, et al. A remote digital monitoring platform to assess cognitive and motor symptoms in Huntington disease: cross-sectional validation study. J Med Internet Res. 2022;24(6):e32997. doi:10.2196/32997
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