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Navigating Resources for Rare Disease Treatments

  • 1.  Navigating Resources for Rare Disease Treatments

    Posted 03-15-2024 04:02 PM

    Per the Orphan Drug Act of 1983 (ODA), a disease is considered rare if it affects fewer than 200,000 individuals. Various awareness campaigns and initiatives aim to shed light on rare diseases, raise public awareness, and advocate for improved research, diagnosis, and treatment. Examples include Rare Disease Day, observed annually on the last day of February, which serves as a global call to action to address the challenges faced by individuals living with rare diseases. 

    Pharmacists play a crucial role in rare disease management and advocacy. As frontline health care professionals, we interact directly with patients, provide medication counseling, monitor adverse effects, and ensure adherence to treatment regimens. Pharmacists also collaborate with health care professionals to improve access to rare disease treatments, increase participation in clinical trials, and contribute to research efforts aimed at advancing therapeutic regimens. 

    With access to many online resources, we can stay informed about rare disease treatments and advocate more effectively for our patients. 

    Regulating Body Over Resources 

    Websites to Online Resources 

    Functions and Scope 


    Serves as a comprehensive repository of drug labeling information that includes indications, dosing, contraindications, and warnings. 


    Offers concise insights with clinical evidence stating the trial participants, their demographics, the outcomes of the study and approved indication for newly approved drugs. Does not offer information for new indications or drugs approved prior to 2015. 


    Centralized database containing comprehensive information about approved drug products, including those for rare diseases. Pharmacists can search for specific treatments, access approval history, labeling, reviews, and regulatory actions. 


    Contains information about ongoing and completed clinical trials for rare disease treatments. Pharmacists can search for trials by condition, intervention, sponsor, and location, gaining insights into study design, recruitment status, eligibility criteria, and outcomes. 


    Today, only approximately 10% of rare diseases have FDA-approved therapies. Consequently, the remaining 90% of patients with a rare disease are left without standard treatment options and often must rely on off-label drug use or no treatment at all.  

    Get Involved 

    • Learn and educate about rare disease treatments by utilizing tools such as FDALabel, Drug Trials Snapshots, Drugs@FDA, and 

    • Pharmacists may also engage with monitoring medication adherence facilitate smooth communication between patients, providers, manufacturers, and insurance companies to improve access to care. Similarly to traditional pharmacist-provided services, such as patient education, medication management services, and coordination of therapy adjustments with interprofessional care team members. 

    • Obtaining a Specialty Pharmacy Accreditation from the Utilization Review Accreditation Commission (URAC) will prepare your practice to respond to what manufacturers of rare disease drugs are looking for. 

    • Interested in learning more about specialized treatments or gene-focused therapies? Visit APhA's Clinical Guidelines webpage and browse the recently updated Pharmacogenetic Resource section located at the bottom of the webpage.  


    Morgan Howard
    Senior Manager, Practice Implementation
    Washington, DC