Navigating the Challenges of Rare Disease Therapies

Understanding the Valuable Role of a Specialty Pharmacy Solutions Provider.
AscellaHealth EU
· 10 min read

The approval of the world's first medicine based on CRISPR gene-editing technology in the UK marks a groundbreaking advancement in the treatment of sickle cell disease. This therapy delivers a potential cure for people born with the chronic and life-shortening blood disorder. The authorisation signalled what industry leaders worldwide call a "scientific triumph." Marking the beginning of a new era of potentially curable genetic medicines for inherited diseases, the first CRISPR therapy establishes a new industry benchmark.


What is CRISPR?

CRISPR is a way to change specific areas of DNA. The CRISPR system was discovered in bacteria, which uses it as an immune system to fend off attacks by viruses. Bacteria store parts of their enemy viruses' DNA so they can cut the viruses' genes and defend against them. A CRISPR editing system has two parts: a "guide RNA" sequence and a pair of molecular "scissors." The guide sequence, like a Dewey decimal number for DNA, leads the scissors to a specific spot on the double helix and the scissors cut the strand of DNA there, inactivating that gene. More recent technologies allow CRISPR systems to insert new DNA into this site or swap out individual nucleotides — the "letters" in the DNA sequence.


These advancements in CGT continue in an effort to address the huge number (90%) of rare diseases that still have no treatment.

In Europe, the European Medicines Agency (EMA) has approved more than 19 cell and gene therapy products to date, and the new product pipeline includes approximately 193 investigational therapies, with more than half of these in Phase 2 clinical trials. Approximately 1,564 CGT clinical trials are under investigation, with oncology and rare diseases continuing to be the top focus areas for CGT from pre-clinical through pre-registration.

However, life science and biotechnology companies still face significant clinical, manufacturing, regulatory, and commercialisation challenges, as specialty product innovation and the introduction of CGTs are increasingly viewed as a journey that begins during pre-commercialisation and continues throughout the product life cycle.

As a result, these companies increasingly rely upon the resources of a single-source specialty pharmacy (SP) and healthcare solutions partner like AscellaHealth.

Value of an SP Partnership

All stakeholders in the SP ecosystem place high value on partnering with a resource that provides complete end-to-end solutions that address the unmet needs of patients, manufacturers and payers. Ideally, this partner can pivot to changes in the market and has the extensive experience and in-depth expertise required to address the unique, challenging issues associated with serving individuals and families facing complex conditions or rare disease.

Look for the support of an organisation that can tackle critical success factors, keeping patients at the centre of all activities and achieving the goals of enhanced medication access, optimised clinical outcomes, and a better quality of life for patients and family caregivers.

  1. Start Early During Pre-Commercialisation

It's never too early in the research and development (R&D) process to identify and measure a product's projected clinical outcomes to meet the needs and expectations of payers and life science manufacturers. With pre-commercialisation, life science manufacturers benefit from proactive planning and early market access strategies supporting a successful product launch. For CGTs, pro-active planning and a long runway are required to support optimal health plan coverage and pricing for expensive therapies. Your SP solutions partner will help to formulate and articulate a strategy that leads to optimal pricing and payer reimbursement on the day of launch.

  1. Be Prepared: Product Launch, Market Access

Since manufacturers may not have in-house capabilities for implementing programmes that tackle the unique challenges and complexities of specialty product launches, a single source partner eliminates the need to engage with multiple vendors to address and accelerate all processes, including:

  • Gather the right data through trials: throughout the different phases of trials, there will be a collection of concise but detailed information that is needed to enable progression to the next stage of the product evaluation. Results from the trials will provide essential credible markers to support future phases. For example, when starting the human clinical phase, safety will have already been established. Markers from previous trials will not only show that the treatment is credible, but also offer a guide for dosage and help to identify a comparator for the trial placebo.

  • Account for patient adherence and compliance with treatment: This impacts short- and long-term product utilisation, quality and length of life, health outcomes and overall healthcare costs for patients who may require prolonged medical care.

  • Market access strategy and payer negotiations: Ensure patient access to therapy and determine pricing and reimbursement at the time of launch.

  • Develop a compelling value proposition and narrative: Identify the unmet needs of all stakeholders, communicate the burden of the disease and highlight the effectiveness of the therapy.

  • Benchmark prices to create a holistic projection of the product's durable pipeline success, number of patient lives affected, and the direct financial impact on the payer.

  1. Ensure Affordability: Financial Solutions

The new wave of extraordinarily high-cost, multi-million-euro CGTs and specialty medications requires innovative financial platforms to support access to these potentially lifesaving therapies. AscellaHealth financial services are quickly becoming an essential component of go-to-market strategies, allowing the high one-time costs of CGTs and other expensive medication to be converted into small, predictable payments over time for payers.

  1. Make Patient-Centric Care the Primary Focus

Look for the right exclusive distribution partner that addresses global markets, one that is staffed by a multi-disciplinary team that has the knowledge, understanding and experience with the new orphan, ultra orphan, and rare disease CGT specialised products, including high-touch therapies that require expert warehousing, special storage, handling, delivery and administration. Their focus should be making sure that the product gets to the patient, is affordable and reimbursable.

This requires the delivery of data in a positive and streamlined way that shows how the patient is doing during every step of the treatment and post-treatment process, including therapeutic outcomes. They are there to help with financial assistance and care coordination with the physicians. It's more than simply delivering the product to the patients -- it's about fully supporting them throughout their entire treatment journey.

Capture Critical Data

In a specialty pharmaceutical landscape, data is critical. Aggregating and effectively communicating data is a strategic imperative where an SP solutions resource can help its partners to overcome industry obstacles, providing robust data and communication tools that enhance efficiency, reduce fulfilment times, and improve health outcomes. The ideal partner will ensure the accumulation of the right data—including safety, efficacy, and outcomes—which are vital to negotiations with payers. The key is to demonstrate long-term outcomes, providing real-world evidence (RWE) that supports payers with early visibility into the total health system costs related to a particular disease.

Ideally, a comprehensive dataset that is structured and accessible through dashboards and portals should reach the product manufacturer daily, providing real-time visibility into every component of the supply chain. This guidance steers the entire team toward achieving optimal health outcomes while ensuring cost-effectiveness. This strategic insight promotes enhanced product utilisation and fosters improved treatment adherence that results in better patient outcomes.

Although these novel and potentially lifesaving CGTs for individuals with rare or orphan diseases bring the promise of personalised precision medicine to life, developers face challenges along several dimensions to become broadly commercially viable.

A Source of Truth


As the specialty drug pipeline continues to grow year-over-year, AscellaHealth is dedicated to providing market stakeholders with critically important and timely updates. On a quarterly basis, AscellaHealth publishes its Specialty and Rare Pipeline Digest™, the industry's most comprehensive quarterly resource of new, pending and upcoming Specialty and Rare Disease drug launches and CGTs, biosimilars and generics.

This complimentary, digital source of industry information supports the specialty drug market needs of all stakeholders and decision-makers, including pharmaceutical manufacturers, payers and providers, with essential updates on products that may impact millions of individuals living with or affected by rare disease or complex, chronic conditions.

This compendium of information exemplifies the organisation's commitment to being at the forefront of disseminating and sharing knowledge, providing valuable insights and data to support its partners, clients and the entire specialty pharmaceutical ecosystem.

For further guidance and assistance, contact AscellaHealth.

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