Finsights Blog

Shining a Light on Rare Disease Day

Today is Rare Disease Day.  The NORD database lists over 1300 diseases and the global rare disease list (RARE List™) is comprised of about 7,000 different rare diseases affecting more than 300 million people worldwide.  This is a day to build awareness, understanding and recognize the amazing patients and families that deal with these incredibly challenging conditions on a daily basis, and the remarkable scientific advancements that have introduced new treatments where previously none existed for some of these conditions.

Despite the impressive scientific and technological advances in understanding rare and orphan diseases, challenges remain outside of the laboratory and scientific discovery settings.   It would be great if all we needed to do to get new treatments into the hands of patients was to run the trials to prove efficacy and safety, and get medications approved by the regulatory authorities.  It is so gratifying to work on addressing unmet medical needs because there is the promise of delivering a pharmaceutical solution where none previously existed.  But of course, solving the science is just the first part of the puzzle. Time and time again in our work at Blue Fin Group with manufacturers in pre-commercial and commercial readiness launch planning for rare disease drugs, we have found that solving unmet needs on the clinical side often leads to many unmet needs on the commercial side that must be addressed.

The big issue is education of all of the different stakeholders regarding the new treatment.  Payers have to be convinced the treatment is a better alternative than what exists today in order to reimburse it.  While the patient population is by definition small (hence “rare disease”), the therapy cost is usually very high on an annual basis, frequently catching payers of all sorts off guard as they contend with the new therapy option for a rare condition.  We’ve seen many new drugs launch costing hundreds of thousands of dollars for an annual course of therapy, creating angst with the patient, provider, payer, and site of administration regarding affordability, reimbursement, and feasibility.

For providers, there is a long list of education topics after building awareness of the new alternative: efficacy and safety, diagnostics, initiation and monitoring, administration, storage and handling, reimbursement and procurement.  The product itself may generate significant educational requirements.  For example, an intrathecal administration for a 6-month-old baby requires specific training for certification and expertise in administration, and a lot of practice to get comfortable with the procedure.  Manufacturers have to think about how all of this education will be delivered, and who exactly will be able to deliver it.

Unfortunately, there is often a gap between the treatment outcomes observed in highly controlled trials and the actual therapeutic benefits experienced by patients in common clinical settings. These gaps are often increased in rare and orphan disease patient populations. This has led to a need for both research and commercial strategies to address the post-trial application of these therapeutic discoveries (molecules, MOA’s and routes of administration) by way of improved patient and product journeys for rare disease patients.

The sites of care that have been involved in the trials have the benefit of the education that has occurred during the trials.  Making sure that there is sufficient drug available via an Early Access Program may help bridge the gap between the conclusion of trials and the availability of commercial drug.  For sites of care that didn’t participate in the trials, the operational burden and education list is clearly longer, as they will need to decide to train their staff in all aspects of the disease and the new product.

All sites will need to consider the procurement and reimbursement of commercial drug.  They will want to evaluate the reimbursement risk and financial requirements for these low volume, high cost, high-touch procedures and products.

For patients and their families, the list of education topics is similarly long: awareness, efficacy and safety, diagnosis, initiation and monitoring, administration, reimbursement, access and support.  Many times in rare disease states there are highly active patient organizations (typically 501c(3) non-profit support groups and foundations), such as the Ryan Foundation, Muscular Dystrophy Association (MDA), CureSMA for Spinal Muscular Atrophy, or the HDSA for Huntington’s Disease, that can help with education.

The often debilitating nature of these conditions and high costs can create all sorts of challenges.  How will patients get to and from diagnostic and treatment locations?  If the cost is substantial, the out-of-pocket is increasingly likely to be substantial, how will families afford therapy?  A first treatment could be the entire deductible in a High-deductible plan, will the patient’s family need a loan to cover the cost? What support will they need on an ongoing basis and who will provide it?  Blue Fin Group has found a comprehensive patient journey that considers both the “happy” path, and the potential exceptions, is incredibly helpful to identify the support conditions that need to be considered.

It’s a long journey for everyone to get a new therapy to rare disease patients, but it’s worth every step.  For many on the Blue Fin Group team, navigating and guiding rare disease product and patient projects has been some of the most inspirational and rewarding work that we do.

For More Information on Rare and Orphan Diseases

Food and Drug Administration
Office of Orphan Products Development
(301) 796-8660

National Institutes of Health
Office of Rare Diseases, 6100 Executive Blvd., Room 3B01, Bethesda, MD 20892-7518
(301) 402-4336 National Cancer Institute

Cancer Information Service
(800) 4-CANCER (422-6237)

National Organization for Rare Disorders
55 Kenosia Ave., PO Box 1968, Danbury, CT 06813-1968
(800) 999-6673

The Genetic and Rare Diseases Information Center
PO Box 8126, Gaithersburg, MD 20898-8126
(888) 205-2311TTY: (888) 205-3223





Sign up to receive our Finsights Blog recaps by email.