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Successful Clinical Supply Strategies for Rare Diseases

Helen Underwood

By: Helen Underwood November 15 2018

Tags: Cell Therapy, Logistics for Clinical Trials, Clinical Supply Optimization

Clinical Supply Strategies Rare Diseases

Rare diseases and the orphan drugs developed to treat them have unique challenges which we explored in my last article “How do rare diseases impact clinical supply planning.” At the recent Global Clinical Supplies Group 2018 European Knowledge Forum, industry colleagues offered their insights on strategies that that can help address the unique needs of these trials.

Countermeasures To Help Assure Success:

  • Raise awareness: US FDA defines a rare disease as one that affects < 200,000 of the USA population. In the EU it’s defined as <5 in 10,000 and in Japan, <4 in 10,000. By default, patient enrollment is going to be challenging. Use advocacy and representative groups to raise awareness of the disease and available studies, and also to help with study design.
  • Leverage technology: In order to enroll the required patient pool, trials have expanded in global reach often extending into regions with limited experience and infrastructure. Leverage technology to improve education and support e.g. video consultations, e-Labels that access data/video via smart phones, apps that can provide translation.
  • Flexible supply chain design: Manufacturing sites are few and far between, and the therapies often require strict temperature control. Design a flexible supply chain that can respond to unique demand requests. Consider small and frequent manufacturing runs. Incorporate redundancy in the plan as contingency. Send test kits in advance, but hold stock until patients are available. Consider the use of drones for remote delivery, particularly with infectious diseases.
  • Improving client delivery experience: Patients are often extremely ill and, as geography has expanded, they may be unable to visit an investigator site. Can supplies be shipped directly to their home? Can the packaging design and drug delivery be modified for self-administration? Would a wearable device provide better integration with their lifestyle, delivering accurate dose administration and, at the same time, better data feedback to the Investigator?
  • Ensure age-appropriate communications: With rare diseases 50% of them appear in childhood and 30% of these children don’t live beyond age 5. For pediatric trials, you will likely be interfacing directly with the parent more often than the patient. Ensure you have age-appropriate communications for both the patient and their families. Oral / simple dosages are often more successful when working with children.
  • Engage with regulatory agencies: Create a strong network and collaboration with regulatory agencies. Engage with them early in the process for trial design and to pursue fast track status for your submission.
  • Advance planning: Advance planning is always important. To that end, during your early trial design define your compassionate use program. Consider educational programs for patients, investigators, families and the general population to raise awareness. Reflect on how to  to support the product launch for what could be a distinct supply chain.

We must always be open to creative, innovative approaches that can lead to positive outcomes. Websites I’ve found to have useful insights include:

Rare Diseases Registry Program (RaDaR) (formerly known as the Global Rare Diseases Registry Data Repository)

National Organization for Rare Disorders (NORD)

European Organization for Rare Disorders (EURORDIS)


While I might not be able to personally cure a rare disease, I’d like to believe I’ve had a hand in helping someone else make a difference to patients’ lives by achieving a successful launch of such a treatment for previously unmet medical need.


Helen Underwood