Global Genes kicks off rare-disease patient engagement effort

By Jenni Spinner

- Last updated on GMT

(dem10/iStock via Getty Images Plus)
(dem10/iStock via Getty Images Plus)

Related tags Rare disease orphan disease patient engagement Central nervous system neurodegenerative diseases

The advocacy organization's PIE4CNS initiative is aimed at targeting and reducing gaps in diagnosis, research, and trials for rare neurological conditions.

Global Genes, a global organization offering advocacy for rare disease patients and researchers, has launched its Patient Identification and Engagement for Rare CNS Disorders (PIE4CNS) initiative. The program is geared toward combatting gaps in diagnoses of rare central nervous system conditions, in addition to helping find and engage qualified patients.

Craig Martin, CEO of Global Genes, spoke with Outsourcing-Pharma about the unique challenges and obstacles faced in rare CNS research, and how the PIE4CNS initiative stands to make a difference in the field.

OSP: Could you please talk about the challenges a typical trial faces regarding patient ID and engagement?

CM: One major underlying challenge is the difficulty and delay in diagnosis of rare neurological, or CNS, conditions. Although rare diseases collectively impact 1 in 10 people in the US and therefore could be considered “common,” there are more than 7,000 different known rare diseases (with some estimates as high as 9,000+), and each can manifest very differently.

Doctors may never have seen a patient with one of these conditions. Patients may not have access to the kind of testing needed to identify the disease. The medical information a doctor may need to get to a diagnosis or understand the progression of a disease may be scattered across health systems and specialists.

In addition, doctors are often reliant on parents or caregivers to observe symptoms, which are difficult to capture and share in ways that a clinician can easily use or interpret. And, if the condition is ultra-rare, there may only be a handful of patients in the world with that disease – so how do you identify, reach and engage those patients in a trial?

OSP: What are some of the solutions researchers have come up with to help tackle these obstacles?

CM: There really aren’t reliable solutions, yet, to effectively address these challenges. A critical obstacle is the lack of access to patient data, which (if it exists) often ends up siloed within a single research or medical institution, or EHR provider, or is walled off based on varied global policies or standards for data privacy.

Patients and caregivers need better tools, access to testing, and the ability to share and assess data that may support a clear diagnosis and identify a patient for treatment or access to clinical trials. RARE-X is one initiative that has sprung up to address this challenge, with the idea that patients should be able to collect and contribute their data on common platforms for diagnostic or research purposes and to drive progress toward the development of effective treatments in their disease are.

Our PIE4CNS initiative is designed to identify and prioritize challenges and related solutions we can work on together to improve the accessibility and inclusiveness of clinical trials.

OSP: Similarly, what are the unique, or maybe more formidable, challenges that come up when the trial involves rare neuro conditions?

CM: Recent estimates suggest nearly half of all rare diseases are neurological, and as many as 90 percent1 of all pediatric rare diseases have a CNS component to them. In addition to being rare and potentially hampered by a lack of access to screening tests and genomic sequencing, these CNS conditions come with a plethora of other unique challenges that stem from the lack of expertise to diagnose early and accurately; objectively observing and understanding the impacts of these conditions on developmental or other related milestones and symptoms; and difficulties and inequities in reaching, connecting and including underserved populations. The PIE4CNS initiative was established to address these unmet needs.

OSP: Please tell us about PIE4CNS—how did the idea for this unique initiative come together, and how did the stakeholders put it all together?

CM: The PIE4CNS multi-stakeholder initiative was launched to address major gaps in the timely and comprehensive diagnosis of rare central neurological conditions, and related difficulties in finding and inclusively engaging patient populations in clinical research in gene therapy and other promising technologies. There are literally hundreds of gene therapies in development around the world, many for rare conditions, and yet if we are unable to identify and involve patients in trials, potentially promising therapies may not make it to patients.

Since less than 5% of rare diseases currently have approved treatments, we need for every trial with the potential to benefit patients to have the best chance possible of succeeding.

OSP: What are some of the short- and long-term goals of PIE4CNS, and how do your members plan on going about achieving them?

CM: Our goal is to identify high-priority opportunities for impact on the most critical issues affecting inclusive, timely, and accurate diagnosis and identification of rare CNS patients, and their involvement in research and care. Our first step was to convene an expert panel representing patients, clinicians, researchers, and industry.

We’re now issuing a survey to patients/caregivers and clinicians to get their sense of what’s most important and actionable. Then we’ll bring together three workshops on pediatric and rare CNS conditions, and health equity across rare neurological disorders; after which we’ll issue a set of top-issue action recommendations for us to take on as a community, informed by this process, and build a coalition to make it happen.

OSP: As you point out, analysts estimate up to 90% of rare conditions have a CNS aspect—could you please talk about some of the struggles patients dealing with such conditions face around diagnosis and treatment, and how things like genetic testing could help?

CM: The average diagnostic odyssey for a rare disease patient can be about 5-7 years, on average. When you consider more than half of rare disease patients are children, and 1/3 of them will die by the age of five, the time spent waiting for a diagnosis can literally be a lifetime.

In addition, while the family or patient is searching for answers, the CNS impacts can rapidly advance, with often devastating, painful, irreversible, or deadly implications. In some instances, the ability to identify and treat a disease early on can mean the difference between a child developing and living a relatively normal life, or missing key milestones most families take for granted, and thereby losing vital neuromuscular or cognitive functions, the ability to communicate, and more.

We are now experiencing significant progress in gene therapy and other platform approaches targeting rare diseases, with many focused on devastating CNS conditions for both pediatric and adult populations. However, the clinical neurology community needs to have the systems and infrastructure in place to effectively diagnose, reach and engage as many of these patients as possible in clinical trials.

Importantly, as we think about these issues and challenges, we also need to understand and more carefully consider the needs of underserved patients – including from communities of color – because they are often impacted differently by their experiences in the health system and underrepresented in clinical trial programs.

OSP: Please tell us more about the workshops you’ve got planned—to whom will you be targeting the events, what topics might be on the table, and what should attendees of these workshops expect?

CM: As part of the initiative, three workshops will be held to explore unique and common challenges specific to rare pediatric and adult-onset CNS conditions, as well as from a health equity perspective. Based on the results of the workshops, the initiative will develop and issue a report and recommendations for action in 2022, which will be the basis for a second, broader phase of activities for the initiative.

We will include patients/caregivers, clinicians, researchers, and drug developers in these workshops as they are the ones most familiar with the distinct challenges, from their perspective, that get in the way of patient diagnosis, identification, and involvement in clinical research.

OSP: Is there anything you’d like to add?

CM: The most critical thing we need at this phase is for clinicians, and in particular neurologists who see rare disease patients, to add their insights, participate in workshops, and then engage their networks in the next phase of our work to take coordinated action in helping us to address these important issues. Any clinician who is interested can visit for more information and to stay informed about the initiative.

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