Being diagnosed with any disease provides a patient with a number of challenges. When that diagnosis involves a rare disease, finding treatment, support and other resources is even more difficult.
Global Genes, an advocacy organization based in Aliso Viejo, CA, works to help patients struggling with rare disease in finding treatment and tapping into support communities. Maureen McArthur Hart (MMH), strategic scientific advisor for Global Genes, spoke to Outsourcing-Pharma about how to reduce barriers and increase diversity in clinical research.
OSP: Could you please tell us what some of the biggest general challenges associated with rare/orphan diseases are?
MMH: The biggest general challenges associated with rare/orphan diseases really focus around the need to learn more about rare diseases. The three biggest challenges are:
- Diagnosis: Often, there is still a significant lag in patients receiving an accurate diagnosis. As genomic sequencing becomes more readily available and faster, this lag decreases, but there are still significant challenges around access to sequencing.
- Collecting data/developing an understanding of disease: To be able to understand the cause of a rare disease and ultimately develop therapies, data are needed, but there is a lag in being able to collect and share that data for researchers and clinicians to use. In addition, data collected through clinical trials often presents a snapshot in time rather than a comprehensive/evolving understanding of the disease.
- Lack of clinicians trained to diagnose/treat and centers of excellence: Rare disease patients are faced with small numbers of clinicians, often concentrated within one or a few centers of excellence, who can be considered experts in their disease and provide the best standard of care as well as research opportunities that may help improve their lives.
OSP: Could you also tell us about some of the problems associated with rare-disease research?
MMH: The challenges with rare disease research often come down to small numbers:
- Limited funding: For many rare diseases, there is very limited funding for research. Often, that limited funding is being raised by the patients and advocates themselves.
- Small number of researchers: Given this limited funding, there are not many researchers who are focused on studying a rare disease. This limits the opportunities for collaboration and limits the speed of learning about a rare disease and what kinds of treatments might make a difference.
- Small patient population size: With small patient population sizes, it becomes difficult to identify rare disease patients, difficult to reach out to the patients, and difficult to conduct clinical trials with a small, dispersed group. In addition, even within relatively large rare disease populations, subgroups of patients who require different approaches to therapies are being identified, and they can be very small. This also translates into limited incentives for both researchers and industry to focus on very rare diseases. Again, researchers find themselves with limited funding and not much attention on rare disease, so they may have difficulty publishing, leading to reduced incentives to focus on rare disease. The industry is not well structured to develop therapies for a very small rare disease population (such as fewer than 500-1,000 patients) right now.
All this translates into significant burdens for patients to participate in clinical research. Clinical centers are often far from a patient’s home and often require multiple visits. This, in turn, can lead to difficulties in recruitment or significant dropout rates for clinical research.
OSP: Why is diversity important?
MMH: Diversity is always important from the perspective of equity. We cannot exclude subgroups because they are challenging to identify. Diversity is also critical to understanding the full breadth of rare disease; cases where there may be different presentations of symptoms or the same symptoms but with a different underlying molecular/environmental cause.
Recognizing diversity also builds up the numbers of the patient population, which can ameliorate some of the challenges of rare disease research.
OSP: When you talk about “diversity,” what does that mean?
MMH: Diversity means ensuring that all people affected by rare disease, regardless of individual situation or characteristics, are afforded cutting-edge attention, care, and support for their disease.
OSP: What are some of the diversity/inclusivity-related barriers related to rare-disease research?
MMH: The diversity/inclusivity-related barriers for rare disease are the same as that of rare disease broadly, although often more acute:
- Small patient populations (difficult to identify)
- Diagnostic delays
- Access to expert clinicians and medical centers
- Access to participation in clinical research
OSP: Could you please tell us about Global Genes — how it was founded, its mission, and some of the projects and achievements the world should know about?
MMH: Global Genes was founded to ensure that all rare disease patients, caregivers, and other advocates could find connections and resources and be empowered to drive advances forward for their rare disease.
Nicole Boice, our founder, saw this need firsthand when one of her childhood friends began searching for answers about why her child was experiencing developmental delays. It took many years before her family received a diagnosis, and even then, they received a diagnosis almost by chance when a physical therapist suggested a diagnosis based on experience with another patient. However, even with a diagnosis, the family still experienced difficulties getting the care and support they needed.
Global Genes was founded to fill those gaps for other families. We are continuing to expand our team and our efforts and have brought in Kimberly Haugstad as our new CEO to focus on managing for our next phase of growth.
We have a Foundation Alliance, a coalition of more than 600 rare disease organizations that believe in the power of collective impact. Foundation Alliance membership provides networking opportunities and effective strategies, along with tools and resources to help build a foundation’s capacity. Foundation Alliance partners collaborate and exchange best practices to drive better outcomes for the rare disease community.
We have a Corporate Alliance which is a coalition of more than 80 rare disease industry stakeholders that are committed to collaboration between industry and patient communities to improve and expedite access to effective therapies for all rare patients.
Global Genes’ notable programs include our annual RARE Patient Advocacy Summit, held in September, which in 2019 had more than 1,500 attendees both live and through streaming opportunities, allowing them to connect and share information about concrete next steps to take in addressing unmet needs in their lives or for their rare communities.
We also hold an annual RARE Drug Development Symposium in partnership with the Orphan Disease Center of the University of Pennsylvania in June, which provides information and resources to advocates about driving forward research and drug development for their disease.
This past year, in response to the need to provide resources around data collection and sharing for rare disease advocates, we offered the Data DIY program, a series of four events with associated workbooks. We offer financial support through The RARE Patient Impact Grant program. As an exclusive funding opportunity for rare patient organizations that are a part of the Global Genes RARE Foundation Alliance, these grants provide a positive impact on patient communities in need across three categories: RARE Innovation, RARE Support and RARE Capacity Building.
We also have individually responded to more than 1,000 requests for information from rare disease patients and caregivers in the last year alone.
OSP: What are some ways (ranging from simple to complex) that sponsors and site managers can help remove barriers to treatment and care?
MMH: Sponsors and site managers can expand their outreach efforts to rare disease populations and increase the opportunities for all patients to participate in clinical research.
OSP: Sometimes overcoming barriers might increase cost; how can people overcome or lessen these barriers without breaking the bank?
MMH: Change the way research is done through technology-driven shifts. Work closely with patient groups to ensure that outreach begins early and is done often.
OSP: Can you suggest any ways in which technology can overcome such obstacles?
MMH: Technology that can be used to reduce the burden of clinical research should become standard. In addition to expanding the ability of patients to participate, technology may drive collection of more robust, real-world evidence.
Wearable devices to collect health data, telemedicine checks, apps that allow the patients or caregivers to collect data on a regular, routine basis, and devices that enable the collection of blood samples within a home environment can all overcome many of the burdens of clinical research.
OSP: Is there anything you would like to add?
MMH: Rare disease patients are experts in their disease. Engagement with rare disease groups should occur early and often and can go a long way toward eliminating the challenges of rare disease research.