A Strategic Alliance Aims to End a Decades-Long Diagnostic Odyssey

ROCKVILLE, Md. & CINCINNATI, OH – June 29, 2026

For thousands of women, the path to a diagnosis for the rare lung disease lymphangioleiomyomatosis (LAM) is a grueling marathon of uncertainty, misdiagnosis, and escalating fear. Marked by nonspecific symptoms like shortness of breath and fatigue, LAM is often mistaken for asthma or emphysema, leaving patients to suffer for an average of three to five years—and endure multiple collapsed lungs—before receiving the correct diagnosis. Now, a strategic partnership between precision diagnostics firm TrilliumBiO and the patient advocacy powerhouse The LAM Foundation aims to shatter that paradigm. By combining a newly available blood test with a targeted awareness campaign, this alliance offers a powerful blueprint for how technology and advocacy can converge to solve some of healthcare's most intractable problems.

The Human Cost of a Hidden Disease

Lymphangioleiomyomatosis is a cruel and enigmatic disease. It primarily affects women, causing abnormal smooth muscle cells to grow in the lungs, lymphatic system, and kidneys, leading to progressive loss of lung function. While rare, affecting an estimated 3 to 7 women per million, its impact is profound. The diagnostic journey is often the first and most significant hurdle, a testament to the challenges of identifying rare conditions within a healthcare system geared toward common ailments.

Patient stories paint a harrowing picture of this "diagnostic odyssey." One woman recounted a seven-year search for answers, her symptoms dismissed until a persistent doctor finally listened. Another shared the story of a 15-year journey that began after a lung collapse, with a final diagnosis bringing a sense of "validation and direction" that had been missing for over a decade. This delay is not merely an inconvenience; it represents years of irreversible lung damage, ineffective treatments for misdiagnosed conditions, and immense psychological distress. The rarity of the disease means that even specialists may not recognize the tell-tale cysts on a CT scan, leaving patients trapped in a cycle of uncertainty.

Until recently, a definitive diagnosis often required a lung biopsy—an invasive surgical procedure that carries its own set of risks. This created a high barrier to confirmation, leaving many in a state of diagnostic limbo. The unmet need was clear: a reliable, non-invasive tool that could cut through the ambiguity and provide a swift, accurate answer.

Beyond the Biopsy: A New Diagnostic Paradigm

The partnership's centerpiece is LAMair™, a VEGF-D blood test developed and commercialized by TrilliumBiO. This test isn't based on a new discovery but on the strategic application of established science. Vascular Endothelial Growth Factor D (VEGF-D) is a well-validated biomarker whose levels are significantly elevated in the blood of most LAM patients. For years, medical guidelines have recommended VEGF-D testing as a way to confirm LAM non-invasively. A blood level above 800 pg/mL, combined with a characteristic CT scan, is considered sufficient for a definitive diagnosis in many cases, obviating the need for a biopsy.

What TrilliumBiO has done is productize and scale access to this crucial test. LAMair™ is offered as a Laboratory-Developed Test (LDT), performed within TrilliumBiO's CLIA-certified and CAP-accredited laboratory. This regulatory pathway allows innovative diagnostics to reach patients faster, with the quality and consistency of the test ensured by the high standards of the lab's accreditation. By making a validated, high-quality VEGF-D test nationally available, the company is removing a major bottleneck in the diagnostic pathway.

"LAM patients often spend years searching for answers," said Laura Vivian, CEO of TrilliumBiO, in the announcement. "We're committed to increasing awareness, improving diagnostic pathways, and supporting therapeutic development to reach better outcomes for patients." This move positions TrilliumBiO not merely as a lab service provider, but as a key enabler in a complex care ecosystem, providing the critical piece of data that can change a patient's entire trajectory.

The Power of Partnership: A Blueprint for Rare Disease Innovation

While the technology is critical, the business strategy behind it is what makes this initiative so compelling. TrilliumBiO’s decision to partner with The LAM Foundation is a masterstroke of strategic alignment. This isn't a simple co-marketing agreement; it's a symbiotic relationship that leverages the unique strengths of both a for-profit diagnostics innovator and a deeply entrenched non-profit patient advocate.

For TrilliumBiO, a company focused on "underserved disease areas," the foundation provides immediate credibility, deep market intelligence, and a direct channel to both the patient community and the specialized clinicians who treat them. This partnership model, which the company has also used to launch diagnostics for other rare conditions like uveal melanoma, mitigates the significant market-building challenges that often plague new diagnostic launches in rare diseases.

The LAM Foundation, in turn, gains a powerful new tool to advance its mission. With a three-decade history of success—including raising over $38 million and playing a pivotal role in the research that led to Rapamune, the first FDA-approved treatment for LAM—the foundation understands that innovation is meaningless without access. "Our partnership with TrilliumBiO strengthens our shared mission to ensure that every person with LAM receives an accurate diagnosis and timely access to care," stated Patti Tuomey, the foundation's Executive Director. "Expanding access to validated diagnostic tools are essential steps toward improving outcomes."

This collaboration creates a virtuous cycle. The foundation's advocacy and educational initiatives will drive awareness of LAM and the importance of early diagnosis, leading clinicians to order the LAMair™ test. The data and revenue generated will allow TrilliumBiO to further invest in diagnostic solutions, while the improved outcomes will reinforce the foundation's mission and attract more support. It’s a model that other companies and advocacy groups in the rare disease space will be watching closely.

Through joint educational resources for clinicians, support materials for newly diagnosed patients, and broader awareness campaigns, the two organizations are building an infrastructure of care that extends far beyond the test result itself. They are not just commercializing a diagnostic; they are redesigning the diagnostic experience. This integrated approach, which combines cutting-edge biomarker technology with strategic, community-based advocacy, provides a powerful and replicable blueprint for accelerating progress and creating lasting value in the fight against rare diseases.