Craig Martin, CEO, Global Genes, offered his inside perspective on the multistakeholder initiative and the fruits it hopes to bear for patients with rare CNS diseases.
In late August 2021, Global Genes announced that it was launching a new initiative to attempt to address the lingering gaps in the diagnosis of rare diseases of the central nervous system (CNS), as well as to inclusively engage patient populations in clinical research of promising technologies that may bring forth advancements in the treatment of these diseases.1
Called the Patient Identification and Engagement for RARE CNS Disorders, or PIE4CNS, the multistakeholder initiative consists of an advisory panel of experts from clinical, research, advocacy, and industry backgrounds. According to Global Genes, there will be 3 workshops held to explore unique and common challenges specific to rare pediatric and adult-onset CNS conditions, and based on those results, the initiative will develop and issue a report and recommendations for action in 2022—serving as the foundation of the second phase of activities for the initiative.
To find out more about the PIE4CNS initiative, its overall goals and mission, and the stakeholders included in the process, NeurologyLive inquired with Craig Martin, CEO, Global Genes. He offered his inside perspective on the effort and the fruits it hopes to bear.
Craig Martin: Recent estimates suggest nearly half of all rare diseases are neurological, and as many as 90% of all pediatric rare diseases have a major CNS component to them.2 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 one-third of them will die by the age of 5, 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 all the milestones most families take for granted, losing functions and the ability to communicate, and more.
We need to do better, but we also recognize that CNS conditions are often very difficult to identify, characterize and treat due to complexities such as lack of reasonable and equitable access to genetic and other tests, and to clinicians with the expertise to diagnose these conditions early and accurately. Often, the information needed to get to a diagnosis or understand the progression of a disease may be scattered across health systems and specialists. Doctors are also heavily reliant on the observations of parents or caregivers (which are difficult to capture and share in ways that a clinician can easily use) and are constrained by the ability of the patient to convey symptoms they are experiencing. Patients and caregivers need better tools, access to tests, and an ability to share and assess data and information that may support a clear diagnosis and identify a patient for treatment or access to clinical trials.
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In addition, we are now experiencing significant progress in gene therapy and other platform approaches targeting rare diseases, with a number of them 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, as most rare diseases have no approved treatments, and a lack of qualified patients may cause promising therapies may not make it to patients.
Importantly, as we think about these issues and challenges, we 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. The PIE4CNS initiative was established to address these unmet needs.
Our goal is to identify high-priority opportunities for impact on the most critical issues affecting inclusive, timely, and accurate diagnosis and identification of patients with rare CNS conditions, 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 3 workshops on pediatric and rare CNS conditions and health equity across rare neurological disorders. Then we’ll issue a set of recommendations on top issues for us to take action on as a community, informed by this process, and build a coalition to make it happen.
Advisory panel members for the PIE4CNS include:
You can find more information about this initiative and the rare disease community at: https://globalgenes.org/rare-neuro-patient-engagement.
What we’re hearing from the community is that, while there may be some distinct initiatives address aspects of the problem (eg, newborn screening, or coverage for whole-genome or exome sequencing, equitable representation in clinical trials, etc)—and we will consider and coordinate with the drivers of these initiatives—there isn’t really an initiative like PIE4CNS that brings priority issues together with the intent of unified, prioritized action across a range of stakeholders. If there is, we’d be happy to collaborate, rather than duplicate.
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 https://globalgenes.org/rare-neuro-patient-engagement for more information and to stay informed about the initiative.
Transcript edited for clarity.