28 - TL INIZIO - Improvement in rare disease diagnosis and care

Rare diseases cast a global shadow, impacting lives and straining healthcare systems. The necessity to combat these diseases has ignited continuous research and innovation, driving groundbreaking treatment advances.

Within the domain of rare disease treatment, early detection can often be the linchpin that determines the trajectory of a patient’s well-being. Yet, those with rare diseases frequently face suboptimal diagnosis and care pathways. Due to the small number of healthcare providers (HCPs) familiar with specific rare diseases, the myriad of shared characteristics with other conditions and the limited number of centres of excellence, diagnosis can take many years and misdiagnoses are common.

Enhancing the diagnostic pathway is poised to alleviate the emotional and financial strain associated with diagnosing rare diseases and, in numerous instances, accelerate the availability of life-saving assistance. The extension of newborn and prenatal screening stands as a pivotal instrument enabling swifter intervention, thereby potentially enhancing patient and family outcomes.

Rare diseases frequently exert their impact across various bodily systems and are often chronic, necessitating the expertise of a multidisciplinary team and extended care to ensure optimal treatment. Upon receiving a definitive diagnosis, families often encounter the added hurdle of manoeuvring through an array of complex care requirements. The prevailing shift toward patient-centred care coordination endeavours to tackle these obstacles head-on. Engaging the services of a dedicated care coordinator holds the potential to alleviate the burden on family members, facilitate prompt care delivery and enhance communication between medical professionals and families.

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.

In the digital age, technology has taken centre stage in rare disease management. Digital health broadly encompasses everything from electronic healthcare records (EHRs) and patient portals to state-of-the-art mobile applications that monitor and track symptoms. Remote monitoring through wearable devices, telehealth consultations and digital health platforms has transcended geographical barriers, granting patients unprecedented access to care, alongside tracking of symptoms and real-time measurement of drug outcomes.

Other digital benefits arise from the utilisation of artificial intelligence (AI)-based algorithms to scan and analyse centralised EHRs to find patterns consistent with a particular rare disease diagnosis. 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.

In everyday healthcare operations, the integration of patient portals and online chat tools has ushered in a new era of enhanced communication between families and HCPs. This dynamic digital transformation extends beyond mere convenience, as it encompasses the broader digitalisation of data – derived from self-reporting, home monitoring or centralised EHRs – which significantly augments clinician decision-making and fosters proactive patients’ involvement throughout their treatment journey.

Patient engagement is transforming the landscape of drug development, particularly in designing clinical trials for rare diseases. The unique challenges of such trials – small patient populations, geographical dispersion and limited disease understanding – are being met with innovative strategies. Prioritising patient experiences and their unmet needs holds the potential to mitigate these hurdles and create more relevant and feasible clinical trials.

Patients and caregivers identify time and travel constraints as major barriers to trial participation, with efforts to address these concerns aiming to enhance patient recruitment and retention. Traditional trial paradigms are evolving, incorporating decentralisation and digital tools to allow for assessments to occur at local clinics, patients’ homes or through digital devices. This vastly improves accessibility for patients with rare diseases, particularly for families burdened by travel costs. Furthermore, decentralised 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. Emerging data from several recently published studies suggests that remote, digital assessments can produce reliable, clinically valid data in rare disease studies.

Patient engagement initiatives gather insights from patients and caregivers to inform the selection and interpretation of trial outcomes. This is especially important for the development of patient-reported outcome measures (PROMs), where patients offer context for treatment expectations, yielding more nuanced measurements than clinician ratings. However, disease-specific PROMs are lacking in many rare diseases, warranting further research in this area.

By incorporating the patient voice into drug development for rare diseases, clinical trial design becomes more patient-centred, and findings provide a more accurate and representative understanding of the impact of treatments on patient populations.

In the evolving landscape of rare disease drug development, patient engagement stands as a transformative force, reshaping clinical trial design and outcome measurement. By amplifying the patient voice, the intricate challenges unique to rare diseases are addressed, paving the way for more accessible, relevant and effective clinical trials. As these patient-centred innovations continue to unfold, the horizon is rich with promise, holding the potential to not only enhance treatment journeys but also illuminate a brighter future for those navigating the complexities of rare diseases.

Improvement in rare disease diagnosis and care

Revolutionising clinical trials for rare diseases through patient engagement

The way forward for patient-centric innovation