Designing Efficient Clinical Trials for Rare Diseases’ Orphan Drug Development

In this exciting blog, we focus on the research and innovation in rare disease clinical trials. Navitas Life Sciences’ commitment to accelerating pharmaceutical breakthroughs globally is reflected in our extensive experience of 600+ clinical trials, expertise in 20+ therapeutic areas, and a proven track record of collaborating with biopharmaceutical companies of all sizes, including the purview of clinical trials rare diseases.

As a global CRO with a legacy of over 30 years, Navitas Life Sciences is recognized for its quality standards, technical expertise, and flexibility in research approaches. We support effectively in overcoming critical challenges faced by orphan drug developers in addressing unique and often overlooked conditions.

Orphan Disease Clinical Trials

Despite the recognition of approximately 11,000 rare diseases, defined by the USFDA as those affecting less than one in 200,000 people in the U.S, a staggering 95% lack effective treatments. Contrary to the perception that rare diseases are uncommon, an estimated 30 million patients in the US alone grapple with these conditions, emphasizing the pressing need for therapeutic interventions.

This blog delves into the heart of the matter with Harsha Rajasimha, Founder & CEO; Jeeva Clinical Trials, and Chairperson of The Indo US Bridging RARE Summit, exploring the challenges that surround clinical trials in rare diseases and the future landscape of rare disease drug development.

Harsha K. Rajasimha, Ph.D.

Founder & CEO of Jeeva Clinical Trials

Chairperson of The Indo US Bridging RARE Summit

Please Share the Story Behind the Founding of Your Organization and What Motivated You to Focus On E-Clinical Trials and Support for Rare Diseases?

After earning a Ph.D. from Virginia Tech, I began my postdoctoral career as a Bioinformatics consultant at the National Institutes of Health, contributing to publications on next-gen sequencing data analysis. Transitioning to a technical advisor role at the FDA in 2012, I encountered a life-altering event when my second baby was diagnosed with a rare congenital disorder at birth.

As our family coped, I became deeply aware of the challenges faced by over 300 million people worldwide affected by 7000+ rare diseases back then. Despite the impact of the Orphan Drug Act of 1983, only 5% of rare diseases had FDA-approved therapies, and diagnosis took an average of 5–7 years.

Driven to make a difference, I became a social entrepreneur, co-founding the Organization for Rare Diseases India in 2013. Leading a coalition until 2019, we outlined a vision for awareness, advocacy, education, & research in India, documented in the first peer-reviewed review article on the topic.

Recognizing global health inequities, I founded Jeeva Informatics Solutions in 2019 to enhance the efficiency and accessibility of clinical trials. Simultaneously, I established the Indo US Organization for Rare Diseases to foster collaboration between the US and the Indian subcontinent. These initiatives are my memorial to the human impact of personal crises and a dedication to resolving unmet patient care needs.

Please provide some of the Specific Challenges That Arise When Conducting Clinical Trials for Rare Diseases?

Clinical trials, crucial for delivering life-saving therapies, face challenges such as significant delays and terminations due to low participation, causing substantial financial losses. Each day of delay results in revenue losses ranging from $600K to $8M for Biopharmaceutical sponsors. There is also 30% dropout rate during trials compromises data integrity, while a lack of diversity in participants, often middle-aged Caucasian males, biases clinical evidence. Over 80% of clinical trials focus on 10% of the world's population, predominantly in the Western world. Without addressing participation and patient diversity, developing therapies for numerous diseases remains hindered.

Rare disease trials pose unique challenges, requiring novel trial designs. Traditional data capture systems may not suffice, necessitating unified platforms supporting decentralized capabilities for remote processes. Patients with rare diseases, facing logistical and health challenges, demand efficient and swift execution, as delays can be life-limiting.

Considering most rare disease therapies are developed by smaller biotech and pharmaceutical companies via pharma clinical trials, cost becomes a critical factor. Cell/gene therapy trials, with small patient populations, require cost-effective long-term follow-up studies compared to short-term studies. Efficient trial management and adaptability are imperative to advance therapies for rare diseases.

What Are Some of the Latest Advancements in Rare Disease Research and Treatment Options, and How Are They Improving the Lives of Affected Individuals?

Advancements in rare disease research have witnessed breakthroughs in precision medicine, enabling targeted therapies based on patients' genetic makeup. Recent strides in gene therapy and Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technologies offer promising treatment options by addressing the root genetic causes of certain rare diseases. Additionally, innovative approaches such as mRNA therapies have shown efficacy in treating specific genetic disorders. These advancements represent a paradigm shift towards personalized medicine, tailoring treatments to individual patients for improved efficacy and reduced side effects.

CRISPR is a revolutionary technology used for gene editing. It allows scientists to modify genes by precisely adding, modifying, or deleting specific DNA sequences. It's exciting that the first CRISPR based therapy has been approved in the UK this year.

A key contributor to these advancements is the revolutionary field of gene therapy. This innovative approach seeks to address the root genetic causes of specific rare diseases. By introducing functional genes or modifying existing ones, gene therapy holds immense promise in providing long-term solutions for conditions that were previously considered incurable. The potential for transformative outcomes is particularly evident in cases where a single faulty gene is responsible for the disease.

Furthermore, the advent of mRNA therapies represents a cutting-edge approach to treating certain genetic disorders. mRNA, or messenger RNA, serves as a blueprint for protein synthesis in cells. Leveraging this mechanism, mRNA therapies can potentially correct or replace malfunctioning proteins associated with rare diseases. This innovative strategy has demonstrated efficacy in preclinical and clinical studies, showcasing its potential as a transformative therapeutic avenue.

These collective advancements signify a paradigm shift towards personalized medicine in the rare disease domain. Tailoring treatments to the specific genetic characteristics of each patient not only enhances therapeutic efficacy but also minimizes adverse side effects. As researchers delve deeper into the intricacies of rare diseases and continue to unlock the potential of precision medicine, the outlook for individuals affected by these conditions is increasingly optimistic. The convergence of gene therapy, CRISPR technologies, and mRNA therapies heralds a new era where targeted, genetically informed interventions hold the promise of significantly improving the lives of those grappling with rare diseases.

How Important Is Patient Advocacy and Community Support for Those Affected by Rare Diseases, and What Resources Are Available for Them?

Patient advocacy and community support play a pivotal role in the rare disease landscape. For individuals facing these conditions, advocacy groups provide essential resources, emotional support, and a unified voice to raise awareness. Organizations like the Indo US Organization for Rare Diseases focus on care navigation service to individual patients and families by connecting them to critical resources globally. At a broader level, these organizations create awareness, advocacy, education, research, connections, and collaborative efforts. Online platforms, support groups, and informational resources empower patients and caregivers to navigate the complexities of rare diseases, fostering a sense of community and shared understanding.

Are There Any Promising Technologies or Therapies on the Horizon That Hold Potential for Addressing Rare Diseases More Effectively?

The US FDA has approved over 17 gene therapies till date including the latest approvals for sickle cell disease in Dec 2023. The horizon of rare disease treatments is marked by innovative technologies. Advances in gene editing, RNA therapies, and nanomedicine show promise in addressing previously challenging rare diseases. Technologies facilitating decentralized clinical trials, like Jeeva's eClinical SaaS platform, contribute to accelerating the development of therapies. Additionally, ongoing research into stem cell therapies and the application of artificial intelligence in drug discovery offer exciting prospects for more effective interventions in the rare disease space.

In the context of rare diseases, the role of artificial intelligence (AI) in drug discovery is particularly impactful. AI-driven approaches contribute to the identification and validation of potential therapeutic targets by analyzing vast datasets, including genomic, proteomic, and clinical information. Machine learning algorithms can uncover intricate patterns and associations within these datasets that may elude traditional methods.

In drug development, AI facilitates the prediction of drug candidates with higher precision, optimizing the selection of molecules likely to exhibit therapeutic effects. Additionally, AI-driven techniques enhance the understanding of disease mechanisms, enabling a more personalized and targeted approach to treatment. By deciphering complex biological interactions, it assists researchers in identifying pathways and molecules that can be modulated to address the root causes of rare diseases.

How Can Healthcare Professionals, Researchers, and Policymakers Collaborate to Address the Unique Needs of Individuals With Rare Diseases?

Collaboration among healthcare professionals, researchers, and policymakers is essential to address the unique needs of individuals with rare diseases. Establishing interdisciplinary forums and research consortia encourages knowledge exchange. Policymakers can facilitate regulatory frameworks that incentivize rare disease research, while healthcare professionals ensure patient-centric care. Open communication channels and partnerships between academia, industry, and government bodies foster a holistic approach to tackle the challenges associated with rare diseases.

Can You Share Any Success Stories or Examples of Breakthroughs in Rare Disease Research or Treatment That Have Had a Significant Impact on Patients’ Lives?

While specific success stories may vary, instances like the development of gene therapies for conditions like spinal muscular atrophy (SMA) and cystic fibrosis exemplify the transformative impact of rare disease research. Patients who once faced limited treatment options now experience improved quality of life and prolonged survival. These breakthroughs underscore the potential of targeted therapies in reshaping the narrative for individuals with rare diseases, offering hope and tangible benefits.

How Can the Broader Public Contribute to Raising Awareness and Supporting Research Efforts for Rare Diseases?

Raising awareness for rare diseases necessitates active involvement from the broader public. Utilizing the influential reach of social media platforms, individuals can share informative content, personal stories, and updates related to rare diseases. Participation in awareness campaigns, both locally and globally, amplifies the visibility of these conditions and promotes understanding.

Supporting fundraising initiatives, whether through donations or participation in charity events, becomes a tangible way to contribute to rare disease research and support services for affected individuals. Collaborating with and engaging in discussions with local and global advocacy groups helps build a supportive community, exchanging knowledge and experiences related to rare diseases.

Attending events dedicated to rare diseases not only offers educational opportunities but also provides a platform for networking and sharing insights. Promoting inclusivity involves creating an environment where individuals with rare diseases feel acknowledged and understood, reducing stigma and fostering empathy.

Public advocacy extends to encouraging policymakers to allocate resources specifically for rare disease research. Supporting legislation that incentivizes the development of orphan drugs—medications designed to treat rare conditions—can significantly impact the availability of treatments for these diseases. In essence, the public's collective efforts in sharing information, participating in events, and advocating for policy support contribute to a more informed, compassionate, and empowered approach to addressing rare diseases on a societal level.

Patient-Centricity Is a Crucial Aspect of Conducting Successful Clinical Trials. What Are the Steps to Be Taken to Incorporate Perspectives and Needs of Patients, especially in the Context of Rare Diseases?

Incorporating patient perspectives into rare disease clinical trials requires a proactive and inclusive approach. Engaging patients right from the initial phase of trial design ensures that the protocols are attuned to their distinctive needs and realities. To achieve this, establishing patient advisory boards becomes a pivotal step. These boards serve as a channel for continuous communication, providing researchers with valuable insights into patient preferences, challenges, and priorities.

The advocacy for decentralized trial technologies advocates for remote participation, significantly reducing logistical burdens on patients. This not only enhances the convenience of participation but also addresses potential challenges related to travel and physical presence, which can be particularly crucial for individuals with rare diseases.

Implementing continuous feedback loops involving patients, their caregivers, and relevant advocacy groups further refines trial design, execution, and the overall patient experience. This ongoing dialogue ensures that the evolving needs and concerns of participants are taken into account, ultimately contributing to the success and patient-centeredness of rare disease clinical trials. It reflects a commitment to adaptability and responsiveness, acknowledging the dynamic nature of rare diseases and the importance of a collaborative, patient-centric approach in the pursuit of effective treatments.

Given Your Experience and Expertise, What Advice Do You Have for Other Organizations Looking To Make Meaningful Contributions to Rare Disease Research and Clinical Trials?

For organizations aiming to contribute meaningfully to rare disease research and clinical trials, a threefold approach is essential. First, cultivate a deep understanding of the specific challenges faced by individuals with rare diseases, emphasizing empathy and patient-centricity. Second, foster interdisciplinary collaborations, bridging the gap between healthcare professionals, researchers, and policymakers. Finally, leverage cutting-edge technologies, such as decentralized clinical trial platforms, to enhance efficiency and inclusivity. By prioritizing patient needs, collaboration, and technological innovation, organizations can navigate the complexities of rare disease research, driving impactful contributions.

Trials in rare diseases present unique hurdles, from the necessity to establish multiple sites across different countries for recruitment targets to navigating the divergent regulatory landscapes governing clinical trials. In this exploration, we aim to shed light on the intricacies of clinical trials in rare diseases, emphasizing the significance of collaboration, innovation, and a holistic understanding of the challenges faced by rare disease companies.

There is an urgent need from rare disease companies, with an onus on analyzing the study of diseases, exploring the dynamics of clinical drug trials, and de-mystifying the complexities by partnering with a strategic rare disease CRO in the pursuit of pioneering solutions. The future remains positive as we navigate the terrain of clinical trials in rare diseases and decipher the potential avenues for transformative breakthroughs.

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