Introduction

Over 7,000 rare diseases affect over 30 million people in the United States [1]. A rare disease is defined as one that affects fewer than 200,000 people in the U.S. Navigating the healthcare system can be challenging for anyone, but it can be especially daunting for individuals and families dealing with a rare disease. 

Recently, there have been many advancements in the diagnosis and treatment of rare diseases, likely due to financial incentives established by the Orphan Drug Act and scientific breakthroughs in genetics and precision medicine [2]. In 2023, over half of novel drug approvals by the FDA were to prevent, diagnose or treat rare diseases [3]. However, finding the right medications, understanding complex treatment plans, and managing costs are hurdles that rare disease patients face. Fortunately, specialty pharmacies offer services and support to help patients and their families on this journey. 

This article will explore what specialty pharmacies are, how they work, and how they differ from traditional pharmacies. We will also examine recent trends and developments in this field and provide guidance on how patients can find the resources they need. We will provide examples of specialty pharmacies that specifically support primary biliary cholangitis patients.

This report is intended to empower patients with information but does not constitute an endorsement of any pharmacies listed.

What is a specialty pharmacy?

Specialty pharmacies focus on dispensing and managing medications for complex, chronic, or rare conditions that require an increased level of patient management [4]. Unlike traditional pharmacies, which primarily dispense common medications for more prevalent conditions, specialty pharmacies handle medications that often require specialized handling, storage, and administration such as injections or IV infusions [4] [5]. Whilst some pharmacies can be restricted to retail-only or mail-order-only pharmacies, specialty pharmacies may use either methods to deliver medications to you [4]. 

These pharmacies aim to offer comprehensive support, to ensure that every patient receives the attention and care they deserve, regardless of the complexity or rarity of their condition. Specialty pharmacies also help ensure proper usage and adherence [4].

How do specialty pharmacies work?

Specialty pharmacies operate differently from traditional pharmacies in several key ways. They often work closely with pharmaceutical manufacturers to manage limited distribution drugs (LDDs), which are specialty medications only available through a select number of pharmacies. This ensures that patients have access to these medications and receive the necessary support and monitoring. Here's a closer look at how specialty pharmacies work:

Dedicated teams: Specialty pharmacies have dedicated teams of pharmacists, nurses, and other healthcare professionals who are specially trained in rare diseases and their treatments. These teams provide personalized care, education, and support to patients and their families throughout their treatment journey [6].

For example, PANTHERx Rare Pharmacy utilizes a patient-centric model called RxARECARE, which involves dedicated care teams that provide compassionate support and streamline access to rare medications [7].

Comprehensive Services: Specialty pharmacies offer a wide range of services beyond simply dispensing medications to support patients. These services may include:

• Benefits investigation and prior authorization support: Helping patients navigate insurance coverage and obtain prior authorization for their medications [8].
  
  

• Financial assistance programs: Connecting patients with financial resources to help cover the costs of their medications [4].
  
  

• Medication adherence support: Providing reminders, education, and counseling to help patients take their medications as prescribed [8].
  
  

• Side effect management: Educating patients about potential side effects and providing support to manage them [4].
  
  

• 24/7 clinical support: Offering round-the-clock access to pharmacists and nurses to answer questions and address concerns [9]. 

  
  

Specialized Infrastructure: Many rare disease medications require special handling, storage, and administration. Specialty pharmacies have the necessary infrastructure to meet these requirements, including:

• Cold chain management: Maintaining the appropriate temperature for medications that require refrigeration or freezing [9].
  
  

• Specialized packaging and shipping: Ensuring that medications are delivered safely and securely to patients' homes [9].
  
  

• Medication administration: Administering medication in forms such as injections or IV infusions [4].

Pharmacists in specialty pharmacies play a crucial role in guiding patients' journeys and monitoring pharmacotherapy [9]. They are actively involved in educating patients about their medications, assessing their response to treatment, and identifying potential risks or complications. This personalized approach ensures that patients receive the best possible care and achieve optimal outcomes.

How specialty pharmacies differ from traditional pharmacies

Specialty pharmacies differ significantly from traditional pharmacies in their focus, services, and expertise. Here's a breakdown of the key differences:

Specialty Pharmacy

• Focus: Complex, chronic, or rare conditions

• Medications: Specialty medications, often high-cost and requiring special handling

• Services: Comprehensive patient care, including benefits investigation, financial assistance, adherence support, and 24/7 clinical support

• Staff: Specialized pharmacists and nurses with expertise in rare diseases

• Infrastructure: Specialized equipment for handling, storage, and administration of specialty medications

• Distribution: Often limited to a select network of pharmacies

• Data Reporting: Systematic and customizable data reporting capabilities to meet manufacturer and payer requirements

• Prior Authorization: Extensive prior authorization support and payment assistance

• Accreditation: Can hold specialized accreditations, such as the ACHC Distinction in Rare Diseases and Orphan Drugs

Traditional Pharmacy

• Focus: Common conditions

• Medications: Commonly prescribed medications

• Services: Primarily dispensing medications, with limited patient counseling

• Staff: General pharmacists with broader knowledge

• Infrastructure: Standard pharmacy equipment

• Distribution: Widely available

• Data Reporting: Limited data reporting capabilities

• Prior Authorization: Limited prior authorization support

To achieve the ACHC Distinction in Rare Diseases and Orphan Drugs, specialty pharmacies must meet stringent standards, including specialized disease-specific training, development of disease management protocols, and capabilities for recording and reporting complex data [10]. 

Engaging with specialty pharmacies as a patient 

Specialty medications, dispensed by specialty pharmacies, are not available over the counter and require a prescription from a healthcare provider first [4].

There are a number of factors that can dictate where a patient receives their medicine from, such as:

1. If an insurance plan has a designated in-network pharmacy a patient must use [4].

2. If the specialty medication is part of a limited distribution network, meaning it can only be dispensed by certain specialty pharmacies [4].

A patient usually engages with a specialty pharmacy after their clinician prescribes the medication and sends it to the appropriate pharmacy. At this point some pharmacies can help with insurance reviews & prior authorization support. Specialty pharmacies also provide education, financial assistance and care coordination for patients [5]. 

A patient may be able to select their specialty pharmacy if their insurance plan allows and the medication is available through multiple pharmacies.

How does a patient find which specialty pharmacies supply their medication?

Finding the right specialty pharmacy can be crucial for patients with rare diseases. Here are some ways patients can find specialty pharmacies that supply medication for their specific condition:

• Consult with Your Healthcare Provider: Your doctor or other healthcare provider is the best source of information about specialty pharmacies that specialize in your condition. They can provide referrals and recommendations based on your individual needs [2].

• Contact the Pharmaceutical Manufacturer: The manufacturer of your medication can often provide a list of specialty pharmacies that dispense their product. Many pharmaceutical companies have patient assistance programs that can help connect you with a specialty pharmacy and provide financial assistance [2].

• Check with Your Insurance Company: Your insurance company may have a preferred network of specialty pharmacies. Contact your insurer to find out which pharmacies they recommend.

Examples of specialty pharmacies providing primary biliary cholangitis treatments:

If you or a loved one want to explore specialty pharmacies that provide treatments for primary biliary cholangitis, we have highlighted a few examples of U.S. based specialty pharmacies. Don’t forget they often require a prescription from your clinician first:

1. Orsini Specialty Pharmacy

   1. Website: https://www.orsini.com/livdelzi-seladelpar/

   2. Phone number: 1-800-410-8575

   3. Email: patientcare@orsinihc.com

   4. HQ based in Elk Grove Village, Illinois

2. Accredo Specialty Pharmacy

   1. Website: https://www.accredo.com/conditions/pbc

   2. Pharmacy phone: 888-608-9010

   3. Other contact options available here: https://www.accredo.com/contact-us 

   4. HQ based in Memphis, Tennessee

3. PANTHERx Rare Pharmacy

   1. Website: https://www.pantherxrare.com

   2. Phone number: 855-726-847  

   3. Email: pharmacist@pantherxrare.com

   4. HQ based in Pittsburgh, Pennsylvania

Please note this list of rare disease pharmacies included is not exhaustive and other pharmacies may also provide treatment for your condition. Some medications require specific administration methods, eligibility criteria, and financial approval. Patients should consult their physician, insurance provider, and the official manufacturer networks to confirm treatment eligibility, pharmacy access, and financial assistance availability. Always seek guidance from a licensed healthcare provider for treatment decisions.

Recent trends and developments

The field of specialty pharmacies is constantly evolving, with several recent trends and developments shaping the industry [9]:

• Increased focus on rare and orphan diseases: There has been a significant increase in drug development for rare and orphan diseases, driven by favorable legislation, scientific breakthroughs, and a growing recognition of the unmet needs of these patient populations [12]. This has led to a surge in the number of orphan drug approvals and a greater emphasis on personalized medicine [3].

• Growth of gene therapy: Gene therapy is an area of major growth in rare disease treatment, offering the potential to cure or significantly improve the lives of patients with genetic disorders [10]. However, gene therapy also presents challenges, such as its high cost and the need for specialized infrastructure and expertise.

• Personalized medicine: Advances in genetics and precision medicine are leading to more personalized treatments for rare diseases, with specialty pharmacies playing a key role in delivering these therapies and supporting patient care [2]. This trend is transforming the way rare diseases are diagnosed and treated, leading to more targeted and effective therapies.

• Integrated health system specialty pharmacy (HSSP): HSSPs offer a model of care that integrates specialty pharmacy services within health systems, providing a more seamless and coordinated experience for patients [11]. This model facilitates collaboration between healthcare providers, specialty pharmacies, and manufacturers, leading to better patient outcomes.

• Technological advancements: Technology is playing an increasingly important role in specialty pharmacies, with advancements in areas such as cold chain management, data reporting, and patient communication tools [9]. These advancements are improving efficiency, enhancing patient care, and supporting the delivery of complex therapies.

• FDA's Rare Disease Innovation Hub: The FDA has implemented a Rare Disease Innovation Hub to expedite the development and approval of safe and effective rare disease drugs [13]. This initiative aims to improve coordination between different agency centers and enhance support for rare disease drug development.

• Orphan Drug Act (ODA): The Orphan Drug Act (ODA) has been instrumental in increasing research into rare diseases [14]. It provides incentives for rare disease research and development, helping to bring new treatments to market.

While there have been significant advancements in rare disease drug development, challenges remain. These include the complex biology of many rare diseases, the small patient populations, and the high cost of treatments [15]. However, there are also significant opportunities for innovation and collaboration to address these challenges and improve the lives of patients with rare diseases.

Collaborations between health systems, specialty pharmacies, and manufacturers are crucial for facilitating advancements in rare disease treatment [11]. By working together, these stakeholders can improve patient access to care, optimize treatment strategies, and support the development of new therapies.

Conclusion

Specialty pharmacies can play a vital role in the lives of patients with rare diseases. They can provide access to life-saving medications, comprehensive support services, and specialized care that can significantly improve patients' quality of life. As the field continues to evolve, with a growing focus on personalized medicine, gene therapy, and technological advancements, specialty pharmacies are becoming increasingly important in ensuring that patients with rare diseases receive the best possible care and support.

References

1. Rare Diseases at FDA, FDA
   https://www.fda.gov/patients/rare-diseases-fda
   
   

2. Advancements in Rare Disease Treatment and Management, Shields Health Solutions
   https://shieldshealthsolutions.com/content/uploads/2023/02/Shields-WP-Rare-Orphan-Diseases-FINAL-March2023.pdf
   
   

3. 9 things to know about CDERS effort on rare diseases, FDA
   https://www.fda.gov/drugs/things-know-about/9-things-know-about-cders-efforts-rare-diseases#:~:text=%22Novel%22%20drugs%20are%20new%20drugs,a%20rare%20disease%20or%20condition.
   
   

4. Specialty Pharmacy, Patient Advocate Foundation
   https://www.patientadvocate.org/wp-content/uploads/Specialty-Pharmacy.pdf
   
   

5. Orsini: What is a specialty pharmacy?
   https://www.orsini.com/specialty-pharmacy/
   
   

6. Biologics Specialty Pharmacy for Oncology and Rare Disease, McKesson
   https://www.mckesson.com/about-mckesson/businesses/biologics/
   
   

7. PANTHERx Rare: Home
   https://www.pantherxrare.com/
   
   

8. How Specialty Pharmacy Differentiates Itself from Traditional Pharmacy, AssureCare
   https://assurecare.com/how-specialty-pharmacy-differentiates-itself-from-traditional-pharmacy/
   
   

9. The Reemergence of Specialty Pharmacy, PMC
   https://pmc.ncbi.nlm.nih.gov/articles/PMC10391222/
   
   

10. Importance of the ACHC Distinction in Rare Diseases and Orphan Drugs for a Specialty Pharmacy Partner, Orsini
    https://www.orsini.com/importance-of-the-achc-distinction-in-rare-diseases-and-orphan-drugs-for-a-specialty-pharmacy-partner/
    
    

11. Rare Disease Drugs: FDA Has Steps Underway to Strengthen Coordination of Activities Supporting Drug Development, U.S. GAO
    https://www.gao.gov/products/gao-25-106774
    
    

12. Rare Therapies, Accredo by Evernorth
    https://www.accredo.com/raretherapies
    
    

13. FDA Rare Disease Innovation Hub, FDA
    http://fda.gov/industry/medical-products-rare-diseases-and-conditions/fda-rare-disease-innovation-hub
    
    

14. From Orphan to Opportunity: Mastering Rare Disease Launch Excellence, IQVIA
    https://www.iqvia.com/-/media/iqvia/pdfs/library/white-papers/from-orphan-to-opportunity-mastering-rare-disease-launch-excellence.pdf
    
    

15. Pharmacy's Role in Treating Rare Disease: Connecting Patients, Providers, Payers, and Pharma, Pharmacy Times
    https://www.pharmacytimes.com/view/pharmacy-s-role-in-treating-rare-disease-connecting-patients-providers-payers-and-pharma