Meeting the Unique Needs of Rare-Disease Patients

Craig Caceci

March 21, 2023

4 Min Read

The growth of gene and cell therapies (CGTs) and specialty pharmaceuticals represents a radical shift in the treatment of rare diseases. By changing the parameters for care coordination, such innovations are improving patient outcomes and leading to a better quality of life. Treatments for rare diseases have been shown to provide more significant health benefits on average than can drugs that are formulated for more common conditions. Regrettably, over 95% of rare-disease patients in the United States lack a US Food and Drug Administration (FDA)-approved treatment for their condition.

Specialty drugs treat rare and orphan diseases and complex chronic conditions. A high-touch disease state requires special handling, administration, distribution, storage, and/or monitoring. Treatment regimens can involve frequent patient care management or clinical monitoring of drugs. The drugs reach patients through a limited distribution network (LDN) and are expensive, which often adds a barrier to patient access.

Gene therapies are used not only to treat symptoms; they aim to cure disease by correcting underlying genetic abnormalities. In the United States, more than 900 investigational new drug (IND) applications for ongoing clinical studies of gene therapy products are underway. The FDA expects to approve 10–20 gene therapies per year, making their availability an emerging driver in specialty pharmacy (SP) benefit management.

The international landscape differs. The EU and seven other countries have one or more approved gene therapy products with more than 60 approved products anticipated by 2030.

Some drug prices are in the multimillion-dollar range. The FDA recently approved Bluebird Bio’s Zynteglo (betibeglogene autotemcel), a gene therapy for beta-thalassemia, which carries a US$2.8 million price tag. That was the most expensive single-application drug in the United States until the FDA gave accelerated approval for Bluebird’s Skysona (elivaldogene autotemcel) for the rare neurological disorder cerebral adrenoleukodystrophy (CALD). At $3 million per treatment, it is now the priciest therapy in the world. Other expensive therapies include $2.1 million (Zolgensma) for treating spinal muscular atrophy (SMA) and $850,000 (Luxturna) for genetic blindness. Although prices are high, the positive clinical outcomes of such one-time therapies as confirmed agents will alleviate downstream costs and reduce the cost of care for patients. For example, beta-thalassemia patients otherwise would require regular blood transfusions.

Distribution Protocols
Most pharmaceutical agents under FDA regulatory authority have specific care-delivery protocols, including cold-chain distribution and specific time limits. Consequently, a high level of care coordination is needed among service sites, care providers, pharmacies, payers, and patients. Medications for rare diseases can require special-handling needs, such as refrigeration, overnight delivery, and shipment tracking. An SP solutions partner that specializes in rare diseases helps provide uninterrupted access to therapy. SP partners provide coordination among stakeholders to address costs and provide monitoring programs that assess effectiveness, compliance, and adherence to treatment. Interventional follow-up helps to ensure achievement of an intended therapeutic outcome.

Financial Solutions
Because of the high cost of treatment, some manufacturers are raising prices for CGTs, exacerbating a growing and significant market concern over the ability of payers to stretch their budgets. Unique financial solutions are being introduced to offset cost burdens and provide financial autonomy with the intent of alleviating up-front costs.

One advisory program enables manufacturers to ensure that allotted copay funds are used toward patient out-of-pocket costs. That improves patient access to life-saving treatments for rare diseases, benefiting underserved and marginalized populations. Another loan-based assistance program uses a pay-over-time approach to offset high costs. Taken together and made available through SP strategic solutions companies, such programs are revolutionary in addressing unmet financial needs in the SP industry.

The Role of Patient Care Coordinators
The time that it takes for patients to begin therapy can be decreased through operational streamlining and supply-chain logistical support that helps to improve care coordination. Case managers and patient advocates provide important resources for optimizing provider and payer involvement during the approval and fulfillment processes.

Care coordinators are essential to patient wellbeing. They work with providers for regular communication and updates in cases when a patient is not compliant, cannot be reached, is struggling with side effects, or is unable to fill medication. By developing personalized relationships with prescriber offices on behalf of patients, coordinators help ease administrative burdens through prior-authorization and appeal-support services.

Craig Caceci is the executive vice president and managing director of Terebellum, a subsidiary of AscellaHealth. Terebellum Limited, Dublin, Ireland; 353-1-542 5206;

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