Rare Diseases

Become a study of choice among patient communities

Patients want to join trials that not only meet their expectations, but exceed them — and that demands customized solutions delivered With Heart™. Our best-in-class team of rare disease leaders are ready to tackle even the most complex trials with their clinical and regulatory expertise, while seamlessly aligning your study with the journey of the patient and caregiver.


Make every patient matter

Patients — not companies, regulators, healthcare providers, payers, or investors — are the people we ultimately serve. And we never lose sight of that. Through our Center of Excellence for Rare Diseases, we bring together cross-functional expertise to meet timelines, minimize patient burdens, and incorporate patient feedback throughout the trial. We also expedite site startup and study management, so rare disease patients have a better chance to enroll and potentially save or improve their quality of life.

Experience in the past 5 years with rare diseases

clinical projects
enrolled patients

Advanced therapies

Eighty percent of rare diseases are known to have a genetic cause. That’s why we’ve built our rare disease capabilities upon deep experience and expertise in the strategic application of genetics in drug discovery and development. Each rare disease clinical trial for a gene therapy or gene-editing therapy is meticulously strategized and operationalized to ensure care of the patient and caregiver, while enabling the delivery team to be a steward of the investigational product.

Precision medicine

Clinical trials for precision medicines pose unfamiliar challenges, like qualifying patients for inclusion due to a specialized biomarker or because genetic testing is required. Our team is ready. We have an expansive bench of experts with direct pharmaceutical and biotech experience (including early-stage biomarker strategy development and genomics), complemented with a multidisciplinary approach to genomic real-world evidence strategy.

Scientific data organization

Our Scientific Data Organization aims to answer previously intractable research questions with a team of scientists, data stewards, solution architects, and informaticists using a quality and process overlay that empowers clinical research with real-world data. This team supports your research by exploring relevant methodologies, such as study feasibility, synthetic control arms, sensors/wearables, and machine learning.


Empathy that minimizes patient burden

We feel the imperative in rare disease settings to minimize the number of patients unable to gain access to potentially life-saving treatments. That’s why our real-world data experts help avoid or reduce the number of patients receiving current standard-of-care treatment in a trial. This process also reduces overall study timelines, getting your product into the hands of everyday patients more quickly.

Expertise for even the most complex trials

The way we integrate clinical and regulatory consulting gives us an advantage when tackling highly complex trials. We also combine an early advisory service of medical, regulatory, genomics, and biostatistical experts with an experienced multidisciplinary team and key technology partnerships to meet and exceed your goals.

Experience and operational efficiency

We bring extensive rare disease experience to projects, including support for rare populations — enabling us to apply previous insights throughout delivery and improve operational efficiency. All our functions are enhanced even further by our Parexel Academy Rare Disease certification program, which is available to you as well.


Our partners in rare diseases


Therapeutic insights

See our latest insights for rare diseases

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