Revolutionizing Rare Disease Research: Unleashing the Power of Patient Advocacy and Artificial Intelligence

Exploring the role of patient advocacy groups and clinical trials while discussing the challenges faced, and how artificial intelligence and modern methods revolutionize the landscape.

Despite the unique traits exhibited by approximately 11,000 rare diseases (RD), patients commonly face challenges due to the diseases’ low prevalence, including feelings of isolation and navigating overwhelming information about their condition1. Publicly available genetic information, due to its complexity and continuous evolution, is often challenging to comprehend. As a result, newly diagnosed families frequently rely on patient advocacy groups (PAGs) for up-to-date information. These organizations serve as vital support communities of patients and families, helping others navigate the complexities of care management of RD2.

Traditional Role of PAGs and their Challenges:

PAGs are pivotal in RD biomedical research, where patients and families often encounter delayed diagnoses (average of 5-7 years), fragmented care across specialists, and limited therapeutic options and clinical trials, causing frustration. These groups build robust communities, sharing experiences and advocating for improved clinical options. Primarily, PAGs contribute by initiating or supporting research, educating patients, and facilitating clinical trials. They establish patient registries, conduct natural history studies, and contribute to external research through data and bio-specimen sharing and encouraging patient participation. Their impact extends beyond increasing participant numbers, encompassing broader contributions to research design, ethics, and addressing logistical barriers2.

Due to the low prevalence of RD and the international scope of most PAGs, challenges arise from language translation and differences in international policies, leading to issues such as limited public awareness and insufficient engagement with patients and healthcare professionals3.

Another major hurdle for the PAGs is funding. Although they have been catalyzing fundraising efforts to directly support basic and clinical research, there is a financial disincentive for commercial biopharmaceutical companies to pursue treatment options for RDs due to the small market size. Therefore, reducing the cost of drug discovery, in particular, clinical trials, is vital for RD drug development4.

Divergent Interests and AI-Driven Solutions:

Sometimes, the divergent interests between PAGs and biopharmaceutical companies may hinder RD drug development. AI-driven virtual platforms have the potential to streamline communication and coordination, enabling real-time data sharing. This supports decentralized trials, fostering seamless collaboration across diverse geographic locations and languages5. Remote trial participation through decentralized trials not only enhances accessibility for distant patients but significantly reduces logistical costs4.

Another impeding factor in RD clinical trials is patient recruitment and ethnic diversity. AI tools can amalgamate diverse data, including demographic, laboratory, imaging, and other -omics data, to align patients with complex inclusion criteria, ensuring eligibility for recruitment5. AI has the potential to improve patient selection by disseminating information to a broader cross-section of potential trial participants through public CT platforms, thereby promoting fairer access to trials6. These
AI-driven tools could expedite recruitment, ensuring diversity and expanding the global potential market for the commercial launch of the drug or therapy.

To better support RD PAGs and their patient communities, essential measures include sharing information and fostering collaboration among geographically dispersed groups to prevent duplication and conserve resources. Crucially, improved accessibility to collaborative research and advocacy networks is vital. AI can contribute to these strategies by providing data-driven insights, supporting informed decision-making, and enhancing overall collaboration. Pivotal to this effort, organizations like IndoUSrare provide a platform for PAGs, government entities, researchers, and pharmaceutical companies to discuss crucial matters, barriers, bottlenecks, and solutions related to RDs and orphan drug development, to achieve the goal of equitable universal healthcare.

1. The Power of Being Counted. RARE-X report June 2022
2. Emerging roles and opportunities for rare disease patient advocacy groups. Ther Adv Rare Dis. 2023 Apr 24;4:26330040231164425.
3. Building advocacy into research. Dis Model Mech. 2023 Dec 1;16(12):dmm050646
4. you-need-to-know/
5. Artificial Intelligence Applied to clinical trials: opportunities and challenges. Health Technol. 13, 203–213 (2023)
6. Quantifying representativeness in randomized clinical trials using machine learning fairness metrics, JAMIA Open, Volume 4, Issue 3, July 2021, ooab077

  • Deepti Dubey
    Deepti Dubey

    Scientific Writer IndoUSrare

    Deepti Dubey, Ph.D., is an accomplished researcher with expertise in Molecular Genetics, Neurological Disorders, and Rare Diseases from esteemed institutions. With a Clinical Trials Specialization, Deepti is a scientific writer at IndoUSrare. She can be reached at

  • Harsha Rajasimha
    Harsha Rajasimha

    Founder and Executive Chairman IndoUSrare

    Harsha K Rajasimha, Ph.D., is Founder of Indo US Organization for Rare Diseases, and Founder CEO of Jeeva Clinical Trials. Harsha chairs the annual Indo US bridging RARE Summit to bring the stakeholders together to address grand challenges. He can be reached at


You May Also Like

The 2024 PM360 Pharma Choice Awards – Multichannel Bronze Winner

Hearts & Science, CBS Media Venture, Sony Pictures Entertainment, and Moderna Moderna’s Jeopardy! Second ...

Design a Holistic Marketing Experience: A New Patient and Professional Journey Model

The space in which patients and HCPs navigate while making treatment decisions is complex ...