By Ivana Magovčević-Liebisch, CEO of Vigil Neuroscience, as part of the From The Trenches feature of LifeSciVC
Patients and their care partners are at the center of our work in the life sciences industry – but at what point during the drug development process should companies start to engage these key stakeholders?
At Vigil, our answer was simple: from the beginning. Our lead asset is in development for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare disease with no approved treatments, so we have prioritized incorporating patient and care partner voices across every stage of development.
Building Community
Understanding the biology of the disease is the beginning. Clinical success often depends on how the disease affects the people closest to it, so understanding what is important to those impacted by the disease is critical. We partner with the community so we can connect the dots between disease biology and the lived experience with ALSP and by extension, the community’s hopes and expectations for potential treatments.
A fatal genetic disease, ALSP is carried through generations, and often turns family members into care partners and sometimes community advocates. As we began connecting with members of the ALSP community, we were soon introduced to Heidi Edwards, an ALSP care partner who lost her mother, both her sisters, and several family members to the disease.
We were proud to support Heidi as she established the first ever ALSP patient advocacy group, Sisters’ Hope Foundation (SHF) with the goal of amplifying community members’ voices and expertise through sponsored disease awareness webinars, videos, and educational opportunities.
In 2022, we partnered with SHF as they launched the first ALSP Awareness Month in 2022, lighting up bridges in Massachusetts and across the country to raise awareness for ALSP and support patients and care partners. Now, ALSP Awareness Month and the accompanying bridge lightings are annual events to raise awareness for this rare adult-onset leukoencephalopathy.
Increasing Awareness and Education
Building a community and structure for ALSP patients and families continues to be an essential need. As a newly defined disease, ALSP remains relatively unknown, and it was clear that raising awareness and increasing education would be key pillars in our larger strategy.
ALSP is an autosomal dominant, adult-onset leukoencephalopathy. This means that not only do parents have a 50/50 chance of passing the genetic mutation onto their children, but because ALSP generally presents in adults after child-bearing years, a person may already have children by the time they learn they have the disease.
Once symptomatic, someone with ALSP has an average life expectancy of six to seven years. During that time, this quickly progressing disease will impact their cognition and psychiatric health, and motor function will decline until they are wheelchair-bound, typically within three to four years. While progression and prognosis are more predictable, symptom onset is different for each person, making it very difficult to recognize a pattern – even among family members. Despite this strong genetic link, it is not uncommon for families to overlook the possibility because ALSP manifests differently for each person.
It is estimated that 10,000 people in the United States are affected by ALSP, but because it is still new and unknown to many, it is often mistaken for several other neurological or vascular disorders, including frontotemporal dementia (FTD), multiple sclerosis (MS), Parkinson’s Disease, and Alzheimer’s disease. This unfortunate combination of variables has led to an incredible rate of misdiagnosis. The only way to definitively diagnose ALSP is through genetic testing of the CSF1R gene, but limited access to genetic testing and appropriate counseling has led to challenges even beyond the all-to-common misdiagnosis. Feedback from patients and healthcare providers prompted us to prioritize filling the gap between symptoms and diagnosis.
While genetic testing is becoming a common diagnostic tool for oncology and other rare diseases (especially those that are pediatric onset), there didn’t seem to be a similar uptake in the neurological space. We sought input from both the ALSP Community and healthcare providers, and came away with two key conclusions:
- Whether it was due to high costs, complicated processes, or limited information, genetic testing was not consistently accessible to this community.
- Informed, supportive, and thoughtful genetic counselors are invaluable for anyone going through the genetic testing process.
With these learnings in mind, we launched ALSPAware: a no-cost genetic testing and genetic counseling program for both patients and healthcare providers. ALSPAware offers a single gene confirmatory test for people with a family history of ALSP as well as a custom gene panel for health care providers assessing a range of adult-onset disorders who want to be confident in their diagnosis.
For us, improving access to the genetic test was not enough. The ALSP Community taught us that the decision to (or not to) test is a complex and deeply emotional one, highlighting a more nuanced but equally important gap. To address this need, the ALSPAware program includes access to genetic counselors. Available at any step of the process, genetic counselors act as shepherds – providing resources, answering questions, and offering support.
Broadening Our Understanding
Drug development is most effective when it incorporates both the scientific and human elements. As we continuously deepen our scientific expertise in ALSP through clinical research, we are also broadening our understanding of the day-to-day by listening to the one living with the disease – patients, care partners, and family members. We cannot grasp the full picture of ALSP without first getting a sense of their lived experience.
Once again, we found ourselves in uncharted waters. Very little information existed on ALSP, and a productive Google search required not only patience and diligence, but the ability to self-teach. Working with the ALSP Community, we worked to share information and support participation in our ongoing clinical trials, as well as expand our shared knowledge of ALSP. We compiled our learnings on ALSPinfo.com – the world’s first ALSP patient facing website, providing information and resources to support the broader community.
Looking to further understand the impact of ALSP on individuals and their families, we led a patient journey workshop to ensure we are focusing on solutions that matter most to the community. Perhaps our most invaluable achievement was in September of 2021, when we launched ILLUMINATE, the first ever natural history study of people living with ALSP.
Through ILLUMINATE we have prospectively followed patients with ALSP to understand the disease’s natural course and evaluate imaging and soluble biomarkers. These insights are directly informing the clinical path of iluzanebart (VGL101), our fully human monoclonal antibody candidate that we are developing as the first potential treatment for ALSP.
At Vigil, we believe it is core to our mission to ensure providers and community members have access to education, necessary diagnostic tools, and support and since our inception, we have made great strides in each of these areas.
Start at the Beginning
Early engagement and collaboration with patient communities, caregivers, and advocacy groups should always be at the center of our work in the life sciences industry. All too often, patient input is a checkpoint on the road to development; at Vigil, we use it to set the pace. The patient voice both drives us forward, and keeps us on the right path, lending a strengthened purpose and sharpened focus to our mission to develop treatments for both rare and common neurodegenerative diseases.
At Vigil, we often repeat the phrase, “patients cannot wait,” a mantra that grounds us in the important work we do. In our Watertown, MA offices, we are also reminded of our mission whenever we walk past our patient wall – an interactive mural that features the faces of ALSP Community members whose insights, strength, and stories have been invaluable throughout our development journey.
This deep connection to the patient community is more than a company value – it is a daily action and effort. It deserves constant focus and ongoing dialogues with the communities we serve. It is never too early to begin your advocacy efforts because true patient focus is woven into every question, decision, and ultimately building successful solutions that matter most to those impacted by the disease.