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Rare Diseases

Breaking down barriers for Rare Disease patients

Lack of widespread clinical knowledge, regulatory precedents and consensus on endpoints all contribute to the complexity of developing long-awaited therapies for patients and families dealing with rare diseases. Couple these challenges with the need to access often geographically dispersed patients and to develop research-naïve sites, and it becomes clear why you require a development partner with distinct expertise and a proven approach.

That’s where PPD comes in. Our cross-functional team of rare disease experts are leveraging in-depth experience recruiting small patient populations, proven regulatory and payer strategies and innovative digital trial technologies to break down barriers for patients and keep your trials on track.

We understand the unique challenges that rare disease patients face and reducing patient burden is at the forefront of PPD’s work.

a patient in physical therapy

The Care Ecosystem

The challenges of developing rare disease therapies are numerous and include the need to engage research-naïve sites and access small, widely dispersed patient populations.

We field direct input from patients, providers and caregivers to understand the patient burden of a disease and determine feasible therapeutic regimens. This early assessment of the patient’s care environment guides study and protocol design, while also positioning your clinical research program as a worthy care option – not as an obstacle along the way to a promising therapy.

We work with rare disease research organizations and advocacy groups while also connecting directly with physicians to identify patients.


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Rare disease studies

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Global patients

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PPD combines our rare disease, gene therapy and direct neuromuscular trial experience to help bring patients independence and freedom.

Learn More About Our Neuromuscular Experience

Our Record in Rare Disease Research

Our deep commitment to advancing rare disease research has driven our conduct of hundreds of rare disease trials involving patients in more than 70 countries. We develop and use creative, patient-centered solutions to improve the development of drugs in rare diseases, as we well as to reach, recruit and retain small, globally dispersed populations.

Our approach is focused on an improved experience for the patient. Whether building strategic relationships with patient advocacy groups to understand disease burden and patient perspectives in specific indications or tapping into our own network of PPD employees who have volunteered to share their experience as patients and caregivers, we work to understand and leverage patient input to ensure an improved patient experience.

Patient-centered research

  • to evaluate patient, clinician and caregiver outcomes, utilities and preferences
  • to incorporate the voice of the patient in protocol design, outcomes, preferences and experience

Patient-centered clinical trial conduct

  • to remove potential barriers associated with clinical trial participation, including:
    – lack of patient and physician awareness and access to clinical trials
    – inconvenience, transportation and additional expenses associated with numerous office visits

A best-of-both-worlds solution, the Rare Disease and Pediatrics Center of Excellence combines the traits of a niche contract research organization (CRO) with PPD’s global experience and focus on three key areas:

Strategic and Operational Excellence
Oversight, Support and Knowledge Sharing
New Approach to Patient Access and Experience

Rare Disease and Pediatric Center of Excellence

PPD’s Rare Disease and Pediatric Center of Excellence is an experienced and dedicated cross-functional center of excellence bringing together development and operational expertise from all therapeutic areas and critical functions within PPD for the success of your research programming. Our Rare Disease and Pediatric Center of Excellence team addresses strategic, operational, medical and scientific challenges presented by the studies in all rare indications.

PPD Hereos

PPD Heroes is a program dedicated to sharing the inspiring stories of individuals facing significant health conditions who have benefited from clinical trials through the therapies research helps develop. Learn More About PPD Heroes

“I am grateful that PPD is blazing trails in rare disease research and helping deliver therapies that could change my life, and the lives of all rare disease patients.”
Sara Ashenfelter
a female and her horse


Our medical, operational, regulatory and real-world experts design and operationalize studies with a customized approach.

  • Focus on patients and caregivers
  • Specialized workforce and rare disease operating model
  • Dedicated general rare disease and indication-specific training for our research teams
  • Massive investment in data and novel technologies bringing trials closer to patients
  • Capitalize on our global footprint allowing for immediate updates on regulatory enviroments and the inclusion of broad, in-country and local language capabilties

We generate evidence to optimize market access for rare disease therapies including:

  • Market access strategies and value stories supported by strong evidence
  • Inclusion of the patient voice across the drug development life cycle
  • Comprehensive real-world evidence generation and dissemination
  • Interventional studies to bridge the gap between pre- and post-approval evidence requirements

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