Guest Column | April 28, 2023

Patient-Centric Clinical Development For Rare Disease Treatments

By Kinnari Patel, Pharm.D., MBA, president and COO, Rocket Pharma


Rare diseases impact more people than all forms of cancer and AIDS combined — about 400 million people globally.1 Children account for roughly half of rare disease cases, with three in 10 passing away before their fifth birthday.2 FDA-approved therapies exist for only about 5% of rare diseases,3 demonstrating the immense unmet need for the patients battling them.

Though each disease has a unique set of challenges, 80% are genetic in origin4 underscoring the value of gene therapy breakthroughs. Though the field is still in its early stages, gene therapy offers an exciting opportunity to improve processes, create new technology, and bring treatments to a host of different diseases. Changing the natural course of devastating rare diseases once seemed implausible, but it is now a very real possibility.

Bringing these scientific innovations to patients living with the more than 7,000 rare diseases5 is difficult and complex. While there are several strategies to address these challenges, I believe that incorporating patients into every step of the process is integral to overcoming obstacles related to drug development, clinical trials, and manufacturing.

Early Patient Input During The Drug Development Process

Patients offer invaluable perspective and should be involved in every stage of the drug development process. While reading medical literature helps us understand the disease itself, engaging with the disease community is the only way to truly understand their unmet needs.

In practice, companies and researchers should meet with patients and their caregivers before designing a human study to hear about the challenges they face. Insights around the journey to diagnosis, finding appropriate medical care, and the burden of living with a life-threatening disease are all relevant to the drug development process. Conversations should include patients with a variety of lived experiences, economic conditions, and characteristics like race and ethnicity, age, sex, and sexual orientation to ensure that all communities can benefit from scientific advances.

I encourage biotechnology companies to prioritize holding these meetings in-person with physicians and patients. Not only can the first-hand experience inspire a sense of purpose needed to drive innovation forward, but these meaningful interactions can also help patients feel that they are not alone.

Designing Meaningful Clinical Trials With Patient Perspectives

With a similar mindset, companies should engage patient advocacy groups and physician communities when designing clinical protocols. Historically, clinical trials did not always recruit participants who represented individuals most affected by a particular disease or condition. This shortcoming can create gaps in our understanding, which can then impede the quality of healthcare and the development of more effective therapies. Therefore, it is critical that biotechnology companies carefully consider the inclusion and exclusion criteria for clinical trials so that all groups are represented and results are applicable to the patients we seek to serve.

Another factor to consider is incorporating exploratory or secondary endpoints in clinical trials. These can help pave a pathway to commercial success, as they can support efficacy, demonstrate additional effects, or support a causal mechanism.

Finally, at various stages of clinical development, companies should invite caregivers, physicians, and disease experts to attend meetings with health authorities, including the FDA.

Patient-Centered Manufacturing

Though a later stage in the process, manufacturing must be considered early, especially as the healthcare industry moves toward one-time potential curative treatments. When companies begin to research potential therapeutic options, it’s essential to stay flexible in approach. Chemistry, manufacturing, and controls (CMC) processes should be considered in the beginning of development, ensuring later success in scaling up operation as regulatory action and subsequent commercialization approach.

One example of prioritizing patients in manufacturing is a multi-platform approach. Research has proven the effectiveness of ex-vivo lentiviral and in-vivo AAV for different types of diseases. Exploring both options allows companies to manufacture and deliver high-quality investigational gene therapies that target disease in patients with high unmet needs.

Cross-Industry Collaboration For The Benefit of All

Gene therapy is more about collaboration than competition. Collaborating with industry peers allows us to tackle the toughest challenges together and is an essential step in moving the entire gene therapy field forward for the benefit of patients. Our collective sharing of knowledge and experience regarding safety, scalability, manufacturing, target identification, and more can help expedite advances and ensure the efficient development of potentially curative treatments. These shared learnings also allow us to pivot and change course if needed, often saving time that is so precious to rare disease patients.

Together, with patients, families, leaders in patient advocacy, and some extremely dedicated medical research and gene therapy experts, we can be confident that our collective efforts will make a world of difference in the lives of patients and their caregivers.

As we reach new milestones, so do the patients that inspire us, from celebrating a sixth birthday to riding a bike for the first time. Progressing rare disease research forward for the benefit of these people is my core passion — and the passion of this industry. Each of us can make a difference if we treat patients as our North Star every step of the way.



About The Author:

Kinnari Patel is president and chief operating officer for Rocket Pharmaceuticals, a late-stage biotechnology company advancing a pipeline of genetic therapies for rare disorders with high unmet need. She oversees the team’s regulatory, clinical execution, global programs, alliance management, CMC, quality, and development. She has more than 15 years of rare disease research & development experience (including in regulatory science, pharmacovigilance, policy, and quality compliance) gained at AstraZeneca, Bristol-Myers Squibb, Novartis, Hoffmann La-Roche, and Pfizer.