The advent of potentially curative gene therapies – particularly for use in rare disease – is rapidly shifting society’s perspective on medicine, as well as the vital role that patient advocacy organizations play in supporting patient communities. Our global healthcare system was built around chronic care management, and patient advocacy groups have tirelessly supported patients and families through the diagnosis, disease management and treatment journey involved in this type of care. Now, in the era of one-time gene therapies, we see the role of patient advocacy groups evolving and expanding to address the needs of patients potentially faced with wholly different treatment paradigms and experiences.

At Orchard, our goal is to closely engage with advocacy groups to listen, understand the needs and expectations of the patient communities and translate them for our internal functions and other interested parties who can help these organizations achieve their critical mission. Our collaboration focuses on identifying areas of shared concern where we can help bolster advocacy groups’ efforts to support patients and represent the community’s changing needs, including those related to gene therapy education, involvement in drug development, speed and accuracy of diagnosis, and access to treatment.

Increasing awareness and education

General awareness of gene therapy remains low, and many people still have limited-to-no exposure to information about this type of medicine or patients who may have benefited from it. Whether through their own personal experience or engagement with other treated patients and clinical experts, patient advocates become deeply familiar with all aspects of a rare disease and its management. When it comes to gene therapy, advocates have a critical role to play in providing information and resources on this very novel science to help patients and families understand what gene therapy is, the approaches to gene therapy and how they differ, and what to anticipate during and after treatment.

At Orchard, we partner with patient groups to share their lived experience, support disease education and gene therapy awareness, and seek input on our own development of educational materials and resources for patients and families. We also recognize patient advocates as an important contributing stakeholder in the wider healthcare ecosystem of policymakers, physicians, payers, media, and other influencers whose perspectives and decisions will affect the future of gene therapy.

Collaborating on clinical development

Clinical development for one-time gene therapies has different approaches and lifecycles than for other medicines, and Orchard seeks to collaborate with advocacy groups on our investigational gene therapy programs. Advocates offer important insights and perspectives to both manufacturers and regulators on patient-relevant outcomes and practicalities of trial design along the drug development path.

Given the rarity of the disease and eligibility criteria for gene therapy clinical trials, patient advocacy groups are well placed to facilitate patient enrollment and offer ongoing practical support to families during clinical trial participation. Through these and other activities, patient groups are helping ensure that the years of clinical research translate to outcomes that make a meaningful difference for rare disease patients and their families.

Expediting timely diagnosis

Rare disease caregivers tend to refer to the “odyssey” they embarked on before finally receiving an accurate diagnosis for their child. However, gene therapies often offer greatest benefit to patients before disease has progressed too far, especially for neurodegenerative conditions. As experience has shown us across our clinical development programs, it is often the case that an older symptomatic child is diagnosed too late, but that diagnosis then leads to genetic testing of younger siblings who, in turn, may be eligible for and receive gene therapy. Rare disease patient advocates understand the importance of early diagnosis, and are often on the front lines of advancing programs like sibling genetic testing and newborn screening, both of which offer hope for earlier diagnosis. Orchard actively partners with leading patient groups and other stakeholders to advocate for broader and more routine uptake of these screening and diagnostic efforts in various countries and regions around the world.

Facilitating patient access

Given disease rarity, as well as the specialist expertise required to administer hematopoietic stem cell (HSC) gene therapies like the ones Orchard is developing or bringing to market, eligible patients may need to travel to a different country or region to receive treatment with gene therapy. This requires detailed planning, logistical coordination, and ongoing support of a patient and family across the entire treatment journey. Patient advocates offer a critical perspective to Orchard to help us understand and anticipate a patient and family’s needs before, during, and after the treatment process. Advocates also bring a strong sense of urgency to the collaborative efforts of all relevant stakeholders, including Orchard, the qualified treatment centers, the referring and treating physicians, and payers, to help facilitate timely patient access to treatment.

Supporting patients and families long-term

We recognize that the needs of patient communities today will continue to evolve in the future as more get treated, more follow-up data becomes available and gene therapy treatments become more integrated into healthcare delivery systems. Through ongoing and meaningful patient engagement, Orchard stands ready to help patient advocacy groups meet the future educational and support needs of their patient communities in the years to come.