Rooted in Purpose: One Company’s Journey toward the First Treatment for a Rare Lung Disease

Talk to one of the estimated 30 million Americans living with a rare disease and it quickly becomes clear just how great an impact these diseases can have on an individual's life. [1]

Take Betsy, a full-time working mom. When Betsy developed a persistent, chronic cough, her life became consumed with doctors’ appointments, tests, and medications—all without an answer as to what ailed her. Her symptoms, including fatigue and trouble breathing, intensified to the point where she could no longer read a bedtime story to her young twin boys without stopping to catch her breath.

After three years of frustrating doctor’s visits in which she received multiple misdiagnoses, Betsy finally learned she had Nontuberculous Mycobacterial (NTM) lung disease caused by Mycobacterium avium complex (MAC), a chronic, debilitating condition that can cause severe, permanent damage to the lungs. Today, there are no treatments approved specifically for NTM lung disease in the U.S. and EU, and physicians instead rely on a combination of drugs that are inadequate for many patients.

Betsy’s story is not uncommon. More than 6,600 rare diseases still lack approved treatments, leaving patients with few or no options for managing their condition.[2] Insmed Incorporated, a growing biopharmaceutical company, is focused exclusively on tackling such diseases and addressing the needs of patients who are currently underserved. Insmed saw the significant need among the NTM community and believed it could offer a compelling solution.

Addressing an Unmet Need

Insmed leveraged its proprietary liposome technology to develop a novel approach that enables the delivery of amikacin, a potent antibiotic, directly to the lungs where the NTM infection resides. Known as amikacin liposome inhalation suspension, or ALIS, the investigational therapy uses a proprietary chemical matrix that has been shown to potentially alter and significantly enhance the delivery and antibacterial performance of amikacin. Historically, amikacin has only been available in an intravenous formulation associated with severe toxicity that significantly limits its use.

With Insmed’s approach, amikacin is encapsulated in liposomes and delivered via inhalation to the lungs, where it is taken up by alveolar macrophages and deposited within the infected cells. Systemic exposure is limited, offering the potential for a more manageable side effect profile. ALIS is currently under review by the U.S. Food and Drug Administration (FDA) and, if approved, will be the first and only inhaled therapy in the U.S. specifically for the treatment of NTM lung disease.

Keeping Patient Insights at the Forefront

As the company worked on the clinical side to develop ALIS, it also sought to better understand all aspects of the NTM patient journey—not only the symptoms of the disease but also the impact it had on patients’ families and professional lives, the long road to diagnosis, and the struggles patients faced with the current standard of care. Through years of relationship-building, Insmed cultivated a wide-reaching network of physicians, advocacy groups, and patients, who helped inform the company on the NTM patient experience.

Like many rare diseases, NTM lung disease can be difficult to identify. Symptoms often overlap with underlying lung conditions that increase the risk for NTM such as bronchiectasis, COPD, and asthma, and the fact that there is very little awareness and understanding of the disease creates a further challenge.[3],[4],[5],[6] Today, it takes on average 20 months from the first NTM-related symptom or diagnostic procedure to an accurate NTM diagnosis.[7] Once diagnosed, patients face additional obstacles, including a treatment regimen of multiple antibiotics that, for many patients, cannot eradicate the bacteria even after a long course of therapy.[8]

These insights factored into the development of ALIS and helped ensure that the company’s efforts focused not only on developing a safe and effective solution, but also took into account convenience, ease of use, and tolerability.

As it potentially moves toward commercialization, Insmed is focused on supporting NTM lung disease patients throughout every step of their journey. Disease awareness efforts have already helped build a greater understanding of the disease among the medical community and forged a path toward faster patient identification and diagnosis. The company is now working with physicians and patients to incorporate real-world input into the training and support patients will need once ALIS potentially becomes available. These efforts will include a comprehensive program to train patients on how to use the nebulizer device and what to expect when starting therapy. The company will also provide support in helping patients navigate the reimbursement landscape and access the therapy.

Evolution, With Purpose

Today, Insmed has grown from a startup of a few dozen employees to a company of more than 350 colleagues around the world. Through careful hiring and a deliberate effort to foster touch points with the NTM community throughout every level of the organization, Insmed has preserved a nimble, roll-up-your-sleeves culture grounded in patient-centricity. With its unique understanding of the NTM landscape, Insmed plans to bring ALIS to market independently on a global basis, unlike many startups that ultimately pursue partnerships with the promise of additional resources and established infrastructure.

While Insmed is initially focused on its potential U.S. launch, the company is building an infrastructure to support the global needs of patients burdened by NTM and other rare diseases. It is also continuing efforts to expand its pipeline of novel therapies, with the goal of catalyzing solutions for patients who, like the NTM community, have long been starved for innovation.

Insmed has seen significant changes during its journey from a small, research-based startup to a near-commercial-stage company, and its evolution serves as a case study for how growing biopharmaceutical companies can balance practicality with purpose. Through it all, Insmed maintains that the same patient-focused vision that drove the development of its liposome technology will continue to guide its evolution into a company that can truly address the unmet needs of patients like Betsy, both now and in the future.

[1] FAQs About Rare Diseases. (n.d.). Retrieved July 20, 2018, from https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
[2] RARE Diseases: Facts and Statistics. (2017, March 29). Retrieved July 7, 2018, from https://globalgenes.org/rare-diseases-facts-statistics/
[3] Young JD, Balagopal A, Reddy NS, Schlesinger LS. Differentiating colonization from infection can be difficult. Nontuberculous mycobacterial infections: Diagnosis and treatment. J Respir Dis.2007;28(1):7-18.
[4] Adjemian J, Olivier KN, Seitz AE, Holland SM, Prevots DR. Prevalence of nontuberculous mycobacterial lung disease in U.S. Medicare beneficiaries. Am J Respir Crit Care Med.2012;185(8):881-886.
[5] Yu JA, Weyant MJ, Mitchell JD. Surgical treatment of atypical mycobacterial infections. Thorac Surg Clin. 2012;22(3):277-285.
[6] Hojo M, Iikura M, Hirano S, Sugiyama H, Kobayashi N, Kudo K. Increased risk of nontuberculous mycobacterial infection in asthmatic patients using long-term inhaled corticosteroid therapy. Respirology. 2012;17(1):185-190.
[7] Data on file. Insmed, Incorporated. Bridgewater, NJ. 2017.
[8] Griffith, D. E., Aksamit, T., Brown-Elliott, B. A., Catanzaro, A., Daley, C., Gordin, F., . . . Winthrop, K. (2007). An Official ATS/IDSA Statement: Diagnosis, Treatment, and Prevention of Nontuberculous Mycobacterial Diseases. American Journal of Respiratory and Critical Care Medicine, 175(4), 367-416. doi:10.1164/rccm.200604-571st

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