Help Optimize Care for Orphan, Rare Lung Diseases Amid COVID-19 Pandemic


The value of a patient-first approach and telehealth for addressing the complex health coordination needs of those with these pulmonary conditions has never been more critical.

Rare lung diseases, defined as those that affect fewer than 200,000 individuals, affect a wide array of individuals.1

These diseases include a spectrum of disorders, including alpha-1 antitrypsin deficiency (Alpha-1), hereditary interstitial lung diseases, lymphangioleimyomatosis, pulmonary alveolar proteinosis, and tuberous sclerosis.

The value of a patient-first approach and telehealth for addressing the complex health care coordination needs of patients with rare pulmonary diseases has never been more critical than during the COVID-19 pandemic. In fact, the pandemic has presented a number of issues facing drug manufacturers, investigators, patients, and providers in the orphan and rare disease market, including the prohibitive cost of clinical trials and patient recruitment.

Patients with Alpha-1 have been challenged to get much-needed education and support related to disease states and prescribed therapies, while also dealing with elevated stressors from being immunocompromised, conscious of infection, and hypersensitive to viral threats.

A patient-first approach to care management offers these patients a proactive, process-driven telehealth program that mitigates the transmission of infection, such as the coronavirus. These strategies ensure care continuity across the entire patient journey with robust communication to yield rich data that clinicians can use to make more informed decisions and improve the overall patient experience. A patient-first focus addresses all variables around collecting data, while maintaining frequent communication with patients and their families to ensure compliance and positive outcomes.

Focus on Alpha-1

To highlight the level of complexity involved in treating rare pulmonary diseases, let’s look at Alpha-1, a genetic condition that may result in serious lung disease in adults and/or liver disease at any age.2 This disease increases the risk of having chronic obstructive pulmonary disease (COPD), inflammation of the blood vessels, liver disease, and skin problems.3

Pulmonary issues mostly occur in adults, while liver and skin problems tend to occur in both adults and children. The age symptoms begin and the severity of symptoms varies depending on how much working alpha-1 antitrypsin protein (AAT) an individual has. Symptoms may include fatigue rapid heartbeat when standing, repeated infections of the liver and lungs, shortness of breath and wheezing, vision problems, weight loss, and yellow skin.

The specific therapy for the treatment of Alpha-1-related lung disease is augmentation therapy, also called replacement therapy.4 Augmentation therapy is the use of AAT from the blood plasma of healthy human donors to increase the alpha-1 levels circulating in the blood and lungs of Alpha-1 patients diagnosed with emphysema. The therapy is administered by a weekly intravenous infusion and, until other therapies emerge, is considered lifelong and ongoing.

Although augmentation therapy is considered the only specific therapy for Alpha-1 lung disease, the treatment plan for lung-affected individuals with Alpha-1 should also include the appropriate use of antibiotics and inhaled medications, exercise program, the elimination of environmental risk factors, an immunization program including influenza and viral hepatitis strains, and oxygen, if needed.

The ultimate goal of therapy is to slow or stop the progression of lung destruction by replacing the deficient protein.4 The therapy cannot restore lost lung function nor be considered a cure. But some evidence shows that augmentation therapy can reduce the frequency and severity of pulmonary exacerbations.

Specialty Pharma on the Rise

In the past, rare diseases have not attracted significant pharmaceutical investment, but this is changing. Large pharmaceutical companies have begun to focus on rare diseases, because of government incentives and the increased likelihood that treatments for life-threatening or severely debilitating diseases will be effective.

Approximately 33% of all drugs in active research and developments pipelines are included in the rare disease category, presenting operational and scientific challenges to clinical trial ecosystem participants and sponsors, as well as the adoption of new operating models, processes, and strategies.5 Approximately 33% of all drugs in active research and developments pipelines are included in the rare disease category, presenting operational and scientific challenges to clinical trial ecosystem participants and sponsors, as well as the adoption of new operating models, processes, and strategies.5

In today’s complex environment, a patient-first approach is more effective, because it relies on a team of experts that brings a specific understanding to each patient’s condition to provide effective care management and therapy. This approach transcends the standard commercialization focus that too often fails to be cost-effective.

With a patient-first strategy, clinical research professionals and pharmaceutical manufacturers can build a commercialization team that is empathetic, engaged, and open. Patient-first strategies offer targeted programs and services that deliver specialized expertise that transcends the scope of capabilities provided by traditional, legacy care organizations, which are often overly focused on scale alone.

Mitigating Clinical Trial Disruption

A patient-first approach provides best-in-class, comprehensive services designed to maximize therapeutic opportunities for the rare disease community, including counseling, education, and guidance based upon patient and caregiver needs.

Patient management organizations and specialty pharmacies that take a patient-first approach uses tools to enable direct-to-patient support, in-home clinical services, and remote monitoring for keeping clinical trials on track. These strategies shorten the time from the clinical trial to commercial drug access. In less than a month, a patient-centric program can transition more than 90% of those patients.

Although traditional models are built for scale, a patient-first approach customizes services for small patient populations, delivering expertise to overcome the limitations of legacy care models and providing cost-effective programs. This includes assurance that products are promptly and properly distributed, financial advantages, and patient services designed to ensure compliance and accurate, quick reimbursement processing.

Integrated telehealth features have allowed patients to get the products delivered without going to physicians’ offices during the pandemic. As a result, the trials conducted during this time had significantly more patients involved, despite the national lockdown.

Clinical research professionals and manufacturers know they have the support to develop a drug and comprehensive program based upon specific needs despite disruption, while dedicated clinical teams can seamlessly eliminate treatment gaps for the patient.

Choosing a Patient-First Management Partner

When choosing a patient management partner and specialty pharmacy, it is important to ensure that they offer a suite of comprehensive services tailored to maximize the therapeutic opportunities for the treatment of orphan and rare disorders. A patient-first approach can provide the trusted path for patients and other stakeholders and add much-needed support for the patient’s family and caregivers. This allows them to becomemore engaged and take ownership, leading to a stronger partnership and better patient care.

The partner’s telehealth solution should be designed to maximize interaction with patients for adherence and compliance, provide continuity of care to avoid lapses in therapy, and streamline patient enrollment. It should rely upon dedicated team members who have expertise in every aspect of the patient’s drug and can address each concern and question from patients, payers, pharmacists, and physicians.

Effective specialty partners demonstrate expertise in navigating the insurance landscape and prior authorization process, as needed, and know how to encourage and monitor compliance. Look for a partner with dual accreditation from the Accreditation Commission for Health Care for specialty pharmacy services and the Utilization Review Accreditation Commission for compliance with specialty pharmacy. This demonstrates commitment to providing quality care and services to these patient populations.

As the health care system continues to respond to the challenges of COVID-19, a patient-first approach to orphan and rare disease management helps stakeholders overcome key challenges around the complexity of these conditions and patients’ daily lives.

It is not simply about protecting already vulnerable patients from the virus but also empowering them in their own health journeys.


1. Disease related resources. American Thoracic Society. Accessed September 22, 2022.

2. Lung disease. Alpha-1 Foundation. Accessed September 22, 2022.

3. Alpha-1 antitrypsin deficiency. National Center for Advancing Translational Sciences. Accessed September 22, 2022.

4. Treatment. Alpha-1 Foundation. Accessed September 22, 2022.

5. Growth in rare disease impacts drug development and strategy. TrialSite. July 10, 2019. Accessed September 22, 2022.

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