Meeting the needs of patients with rare diseases: better access to specialty pharmaceuticals, gene and cell therapies

Anyone who puts themselves in the shoes of someone with a rare disease will experience not only the daunting prospects of deteriorating health, but also the pressure to organize effective treatment sooner and prevent morbidity and mortality. . There are 7,000 known rare diseases affecting approximately 30 million people in the United States, or about one in 10 people. The exact cause of many rare diseases remains unknown. Yet, for a significant part, the problem can be traced to mutations or changes in a single gene.

Many patients face years of difficult ‘diagnostic odyssey’ before receiving a correct diagnosis and face many obstacles to obtaining the specialty drugs or innovative gene therapies that can save their lives. The high cost of certain drugs can sometimes impede access for patients with rare diseases who often struggle to obtain affordable, adequate and accessible health care coverage. Unfortunately, over 95% of rare disease patients do not have an FDA-approved treatment for their condition. Rare diseases represent a burden for individuals and families and pose a major public health problem. The National Organization for Rare Disorders (NOTD) maintains a Rare Disease Database providing brief introductions to patients and caregivers about specific rare diseases.

Promising prospects: Specialty drugs

The increasing pace of innovation made possible by emerging scientific breakthroughs and new understanding of diseases has led to the development of new therapies. The number of new patients entering the care pipeline is steadily increasing, with some having more than one condition requiring a specialized drug.

Specialty drugs are generally defined using elements of the following criteria, identifying an agent as a specialty drug:

  • Used to treat rare or orphan diseases or complex chronic conditions
  • High contact medical condition that involves one or more of the following for the drug:
  • Requires special handling
  • Requires special administration
  • Requires special distribution or storage requirements
  • Requires special monitoring
  • Involves frequent or frequent patient care management or clinical monitoring
  • Distributed through a limited distribution network
  • High cost

Due to their high cost, specialty drugs are often prohibitively expensive and therefore add a barrier to patient access. In fact, the direct costs of specialty drugs have grown faster than gross domestic product (GDP) growth over the past decade.

These issues are contributing to the increased attention and growth of specialty pharmacy (SP) among patients and healthcare benefit payers, as well as specialty drug manufacturers who want to ensure their drugs are transparently accessible. by patients prescribed and that drug therapy is monitored for efficacy, safety, compliance and adherence to treatment.

Specialty drugs may be covered by medical or drug insurance and coverage is usually tied to where the patient receives the drug: if the patient takes a pill or injects the drug at home, it is more likely that he is covered by the pharmaceutical allowance. If the patient receives the drug in a doctor’s office, hospital, or outpatient clinic, it is more likely to be covered by the medical benefits portion of existing health insurance coverage.

One initiative that can provide substantial savings to the patient and payer is to identify an alternate care program site. These programs provide more convenience for patients and caregivers/support team members and improve opportunities for patient engagement and care in addition to reducing costs for the patient and payer.

Innovative copayment coupon programs provide an additional way for patient and payer to use manufacturer-provided funds to offset the cost of therapy. The use of these programs is already in place, improving patients’ ability to access these expensive drugs.

In the future, specialty exclusions that move specialty drugs from traditional prescription drug management to a pharmacy benefit administrator or specialty administrator are likely to continue. These arrangements provide cost savings, remove any incentive to distribute the product, and present opportunities to manage and monitor usage management programs that match the payer’s expectations.

These programs also enhance patient care coordination activities, educate patients, and provide the opportunity to improve treatment adherence. Specialized clinical support programs can also identify and mitigate barriers to continued patient adherence and monitor for side effects and adverse events, indicating the need to modify or discontinue treatment.

Going forward, specialty pharmacy networks are expected to gain wide appeal, with specialty medicines being dispensed and coordinated by identified specialty pharmacies with high contact capabilities such as personalized patient support services and advanced storage and storage capabilities. shipping. These hand-selected pharmacies serve as centers of excellence in all specialty conditions and help improve care coordination, minimize wastage by preventing excessive medication hoarding, and increase treatment adherence for results. optimal for patients.

Gene therapies

Across the industry, many envision a world where genetic blindness, severe muscular dystrophy, cancer, sickle cell disease, blood disorders and many other diseases are not just treated, but actually cured. by gene therapies. As some of the nation’s leading pharmaceutical and biotech giants ramp up product development and commercialization, what was once just a futuristic concept is becoming a reality.

Gene therapies are not just another new class of specialized drugs to treat the symptoms of a given disease – they aim to cure by correcting the underlying genetic abnormalities that cause the disease. With more than 900 Investigational New Drug (IND) applications for ongoing clinical studies of ongoing gene therapy products, and the FDA predicting that it will approve 10-20 gene therapies per year, the availability of these breakthrough drugs is growing. an emerging driver of change in the management of specialty pharmacy services.

The advent of genetic therapies that represent new options that could change the lives of the people who use them comes with high costs, as multi-million dollar drugs have arrived. In fact, a new record was set recently when the FDA approved Zynteglo, a gene therapy for beta-thalassemia, a rare disease requiring regular blood transfusions that carries a record price of $2.8 million and makes it the most expensive single-use medicine. in the United States and among the highest in the world. Others like Zolgensma which treats spinal muscular atrophy (SMA) cost $2.1 million for a single dose treatment and Luxturna for genetic blindness costs $850,000.

Stakeholders are discussing these issues, and the payment models being developed for newly approved specialty drugs and gene therapies provide a first indication of the flexibility and coordination that will be required from manufacturers, payers and decision-makers to optimize patient access.

Currently, one of the potential solutions to payor coverage is a loan-based assistance program, which converts the high initial cost of ultra-expensive therapies into a loan repayable over time in small, predictable payments. This opportunity protects payers against treatment failures using drug product guarantee and/or value or risk-based agreement, provides a mechanism for patient mobility transfers from one payer to another, reduces the need of stop-loss or reinsurance and improves patients’ access to ultra-expensive therapies.

Over time, the gene and cell therapy market is expected to venture beyond targeting rare diseases alone, with leading MS innovators introducing solutions that address patient health outcome monitoring and affordability concerns. .

Photo: cagkansayin, Getty Images

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