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The Value of Partnership for the Rare Disease Patient

Every year on Rare Disease Day, the last day of February, people living with one of the more than 7,000 rare diseases, their families, and friends come together to raise awareness about what it is like to live every day with a rare disease. While one (1) in ten (10) Americans live with a rare disease, only five percent have an FDA-approved therapy available to treat their condition. The Orphan Drug Act, established in 1983, seeks to ensure that the biopharmaceutical industry has incentives to develop therapies for conditions that affects fewer than 200,000 individuals. According to the Global Genes RARE Toolkit, “From Molecules to Medicine: How Are New Drugs and Therapies Developed?” the Orphan Drug Act has helped about 400 therapies come to market to treat those living with more than 447 different rare conditions. But that still leaves more than 6,500 rare disorders without any treatment options.

One of the ways Continuum Clinical helps industry operationalize patient centricity is to recommend and facilitate early patient engagement during the clinical trial process. This engagement is even more critical in rare disease because patient populations are smaller and potentially widely dispersed throughout the United States and globally, making recruitment efforts more difficult. Inclusion of the patient voice and patient journey can help to ensure that the endpoint measures selected by research teams align with what is most important to patients, whether it is improvement in quality of life, slowing down the progression of a condition or addressing a life-limiting symptom. The only way for industry to learn this information is to directly engage those living with or caring for those living with the condition.

Continuum Clinical’s Advocacy Relations team has engaged patient advocacy groups in a variety of therapeutic areas. This year, Continuum has partnered with Global Genes, one of the leading rare disease patient advocacy groups, to share examples of how rare disease patients and caregivers are true stakeholders in the drug development process and demonstrate that these relationships can be mutually beneficial.

One of the benefits of the rare disease patient community engaging with the biopharmaceutical industry is for the patient community to gain a greater understanding of what is actually involved in the drug development process. As with many conditions, being diagnosed with a rare disease is overwhelming, scary and immediately life-altering. It is likely that the patient or their family has never heard of the diagnosis and through their own research are struggling to find accurate and up-to-date information on their condition which may be more prevalent for a common condition. A whole new vocabulary becomes part of the family’s daily language and an education on clinical trials and the drug development process is essential because there will likely not be an available treatment; in these situations, clinical trials may be their only option. It is hugely beneficial for a patient community affected by a rare disease to fully engage in the drug development process to understand what it really takes to bring a therapy to market, so that they can appreciate all the dynamics and intricacies that they might otherwise not be privy to.

“One of the benefits of the rare disease patient community engaging with the biopharmaceutical industry is for the patient community to gain a greater understanding of what is actually involved in the drug development process.”

A recent FDA approval for a first-in-class gene therapy heavily benefited from the voice of the patient throughout the entire drug development process. Patient insights were leveraged to influence trial design during the protocol development stage and later shared directly with the FDA as personal stories. In this particular engagement, the high level of interaction throughout the drug development process facilitated patients and caregivers being influential stakeholders and ultimately part of the success. In turn, by engaging patient advocacy groups and listening to feedback and insights from the patient community, the study sponsor was able to establish and build trust at the outset of their program. When a company is able to invest in the patient community at the very beginning of the drug development process, the patient community will in turn invest back by giving their time and potentially can increase the likelihood of clinical research success.

In another rare genetic disorder affecting children, a family who had a child living with the condition engaged with a geneticist developing a compound that could potentially lead to a treatment. The family set up their own patient advocacy group with a goal to share the story of how this rare disorder was affecting their family and raise funds for research. Through the success of small fundraisers, generous donors, and some media attention, the family foundation was able to secure funding for the geneticist whose research was stalled due to a lack of funding. Due to the attention generated by the family foundation, the geneticist attracted the attention of a biopharmaceutical company that was interested in studying the therapy via a clinical trial. The family foundation developed relationships with other families affected with the condition and facilitated the quick mobilization of a medically fragile patient population so that pediatric patients and their families could travel to the clinical trial site and participate in the first phase of the study. Later, when the biopharmaceutical company sought to validate the endpoints of the next clinical trial, they looked directly to this patient community for their insights. Ultimately, the patient community came together to participate in the second clinical trial and subsequent FDA hearing, which led to the unanimous approval of the therapy to slow the progression of the condition and directly impacted the life span of the affected children.

The examples above illustrate how the collaboration between the biopharmaceutical industry and the rare disease community can lead to mutual understanding and respect, while also driving science forward for the benefit of all patients living with those conditions. According to Kendall Davis, Director of Strategic Alliances at Global Genes, “Patients have become critical partners in drug development from seed funding early stage research to working with biotech from the start. What this collaboration results in is forward progress for the disease community, informed clinical trial design, faster time for trial enrollment, a potential treatment and most important, hope. Patients are critical partners and smart organizations get it.” Rare Disease Day is the perfect time to focus on, and raise awareness of, the time, effort and trust needed from the rare disease patient community to successfully engage rare patients in the clinical research process so that industry can bring therapies to the patients whose lives most depend on them. And to remember there are still more than 6,500 rare disorders where patient communities do not currently have treatments but also do not lack hope or willingness to engage to find one.