kid with rare disease hugging dad

Rare Disease CRO Services

Alleviating the burdens of rare diseases

There are no U.S. Food and Drug Administration (FDA)-approved treatments for 95% of rare disorders, creating an immeasurable physical and mental toll on patients and their families. Whether performing clinical trial therapeutic research for adult or pediatric rare diseases, the PPD™ clinical research business of Thermo Fisher Scientific recognizes the person behind the condition.

Patients are at the heart of our rare disease contract research organization (CRO) services. By incorporating the experiences of trial participants, their caregivers and investigators, we enable a patient-centric approach for our clients’ transformational therapies and for positive change in the lives of people with rare diseases.

Rare disease development is a priority for many drug developers, but they face persistent challenges when trying to advance treatments for these often-complicated disorders. These barriers to rare disease treatment and orphan drug development include:

  • A lack of consensus on endpoints
  • Inexperienced, understaffed, or unavailable research sites
  • A shortage of regulatory precedents
  • Geographically dispersed patient populations
  • Finding and retaining enough patients to participate in a rare disease clinical trial

We enable clients to navigate these difficulties and overcome obstacles that arise in the clinical development, testing and regulatory approval of treatments for rare diseases.

Committed to rare disease research

Of all the rare diseases that have been identified globally, only 5% have an approved treatment or therapy. This number inspires us to drive research forward and to develop new rare disease therapies that change lives. Through our Rare Disease and Pediatric Center of Excellence, wide-ranging study experience and specialized rare disease trial framework, we deliver innovative solutions to overcome the challenges associated with orphan drug development.

Rare disease clinical trial services

Patients and the drug developers working to fight rare disorders face a number of challenges. The PPD clinical research business of Thermo Fisher Scientific designs and conducts rare disease studies that solve for those challenges. Our focus is to decrease patient burden and help them and their caregivers navigate a complex health care system.

Our patient services build on long-standing partnerships in the rare disease community to provide innovative solutions for increasing access to clinical trial participation and patient retention. These services include:

  • Booking and coordinating patient transportation to and from study sites, providing convenience and travel expense verification for patients
  • Offering flexible patient reimbursement options in more than 150 currencies
  • Connecting patients to options for home health care, including remote staff partnerships

Draw on global rare disease study experience

In the past five years, we’ve partnered with rare disease developers across all phases, indications and therapeutic areas.

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Rare disease studies






Global patients

Rare disease trials

To enable you to create and test your rare disease therapy, our team creates an unmatched, customer approach for deep understanding of the diagnostic journey, care landscape and patient experience.

Understanding the patient journey webinar

Gain insights into the challenges of accessing global patient populations, manufacturing, regulations and patient-centered protocol design in rare disease clinical trials.

Recruit rare disease clinical trial patients

Finding the right patient for your rare disease trial can be a challenge. We offer flexible, innovative protocols for reaching, recruiting and retaining the small, globally dispersed populations of patients with rare diseases. Patients also benefit from our decentralized trial services, which help them stay engaged while ensuring that clinical trial data and materials are handled appropriately and in a timely fashion.

Virtual rare disease trials

By offering virtual trials, the patient experience can be optimized with minimal delays and inconvenience by allowing patients to visit a local care hub or arranging for a nurse to make home visits. Participants are assigned a patient concierge, who can proactively help them with resources and solutions to reduce the burden for patients and their caregivers.

You can employ our digital and decentralized trial technologies that help bring clinical research to the patient, meeting them where they are and simplifying participation through the use of:

  • Mobile sites
  • Wearables
  • Telehealth
  • E-consent
Explore the latest insights on DCTs in rare disease

Patient-centered rare disease research

To drive your treatments forward, we leverage patient-centered partnerships that are key to our approach. We actively build strategic relationships with advocacy groups, academic institutions, health care providers and pharma industry groups to gain firsthand insight into the patients’ journeys. We also tap into our own network of employees who have volunteered to share their experiences as both patients and caregivers.

Make the right decisions earlier

The wrong decision can upend your study in rare disease research — especially for clients developing an orphan drug. That’s why we take a holistic approach from the outset, accelerating study startup by providing an upfront understanding of data, cost and necessary clinical expertise for your trial. The advance planning in our CRO services accounts for:

  • Site costs
  • Indication-specific experience and available staff
  • Disease diagnosis and progression
  • Clear endpoints

Your project is assigned a dedicated, cross-functional team from the start, meaning you’ll have consistency as our experts design and deliver your clinical trial with rapid patient recruitment, retention and experience in mind.

We also run efficient natural history studies in parallel with therapeutic studies, which:

  • Generate the real-world evidence required by the FDA and other regulatory bodies to better characterize patient populations and delineate target populations
  • Focus on describing disease frequency, features and evolution by collecting real-world data from patients
  • Are often performed early in the clinical development process to support and guide the design of rare disease clinical trials

Rare Disease and Pediatrics Center of Excellence

The PPD™ Rare Disease and Pediatrics Center of Excellence (COE) focuses on shaping trial design, strategy and delivery for adult and pediatric rare indications. The COE has performed more than 240 pediatric studies and supported more than 545 total rare disease studies across all phases, indications and therapeutic areas. Our cross-functional rare disease experts deliver innovative, patient-centric solutions and train our study teams to skillfully address the complex challenges faced by these young patients and their caregivers.

To decrease the participation burden for pediatric patients and their loved ones, we aim to increase trial flexibility. We can design hybrid study approaches that include both in-clinic and at-home endpoints by leveraging novel trial design solutions, our bespoke digital platforms, and the widespread availability of decentralized clinical trial options.

Rare disease expertise across therapeutic areas

Rare disease trials span many indications. Explore our dedicated rare disease expertise in neurology, metabolic and neuromuscular clinical research development.

Our heroes in rare disease

Our Heroes program is dedicated to sharing the stories of individuals facing significant health conditions like rare diseases. These patients have benefitted from the therapies that are made possible by clinical research.

Related resources in rare disease

As you navigate the challenges of rare disease development, we can help. Connect with us to learn more about our patient-centric solutions in rare disease development.