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 experts 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.
As the Global Head of Rare Disease, I oversee everything from the pre-award phase, working with our sales teams to come up with the best strategies for our clients to be able to best build out their programs, add in the knowledge and expertise that we've got in-house to complement what they need, particularly working with the biotech companies.
They often have some incredible experts but just need that extra support to get to the clinical development plan that's going to get through regulatory. The idea of the Center of Excellence was to bring our global expertise together into a functional unit. And on speaking to these experts, they have some incredible insights into the pitfalls, the challenges around how to get the data to a level of integrity where you can get it through the regulatory rigor and the challenges actually that we face in rare diseases.
From a drug developer perspective, the regulators face, so the same challenges. So, it was really interesting to have those insights into, you know, how they look at those same challenges and how we can overcome them. Because clinical development in rare disease is so condensed.
You quite often have one or two clinical trials, so you have to get it right first time. As we learn more and more and more about these rare diseases, the regulators are asking for more and more strict trial designs, and that's becoming a real challenge.
And then the second piece is the high cost, the high price of rare disease products. So again, to date, because rare diseases have been a huge unmet medical need.
The price of these therapeutics, particularly gene therapies, has been astronomically high. But as more of these products reach the market, it's becoming unsustainable.
So again, a lot of the conversations we're having is how can we price these products at a reasonable rate and be able to get the benefit for both patients, the payers, and the clients?
Our experts in rare diseases
Rachel Smith
Executive Director, Rare Disease, Center of Excellence
Stacy Hurt, M.H.A., M.B.A.
Chief Patient Officer
Chris Learn, Ph.D., P.M.P.
Senior Vice President, Head of the Cell and Gene Center of Excellence
Angela Qu, M.D., Ph.D.
Senior Vice President, Translational Medicine, Global Head of Biomarkers & Genomic Medicine
Martin Roessner
Corporate Vice President, Biostatistics
Steve Winitsky, M.D.
Vice President, Technical - Regulatory Strategy
Mwango Kashoki, M.D., M.P.H.
Senior Vice President, Global Head of Regulatory Strategy
Sangeeta Budhia
Vice President, Pricing & Market Access
Sinan Sarac, M.D., Ph.D., M.Sc.
Senior Vice President, Head, Regulatory Strategy Europe
Our experts in rare diseases
Rachel Smith
Executive Director, Rare Disease, Center of Excellence
Stacy Hurt, M.H.A., M.B.A.
Chief Patient Officer
Chris Learn, Ph.D., P.M.P.
Senior Vice President, Head of the Cell and Gene Center of Excellence
Angela Qu, M.D., Ph.D.
Senior Vice President, Translational Medicine, Global Head of Biomarkers & Genomic Medicine
Martin Roessner
Corporate Vice President, Biostatistics
Steve Winitsky, M.D.
Vice President, Technical - Regulatory Strategy
Experience in the past 5 years with rare diseases
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clinical projects
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enrolled patients
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sites
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.
Advantages
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.
FREQUENTLY ASKED QUESTIONS
Prevalence of a disease determines if it is considered rare. The FDA defines rare disease as one that fewer than 200,000 in the U.S. live with. Different organizations around the world define rare disease slightly differently.
Selecting the right endpoints to establish clinical benefit is one of the most challenging aspects of rare disease drug development.
With rare diseases, often little is known about the condition’s natural course, and the experimental agent’s mechanism of action may not be fully illuminated. Additionally, patients are often difficult to locate, making it hard to power a study adequately enough to measure treatment effects.
Many companies wish pursue FDA Breakthrough Therapy Designation for drugs targeting rare disease. BTD has become a core component of the regulatory strategy for these drugs.
Choosing the appropriate strategy and timing for a BTD request is a crucial challenge for companies. To maximize the program’s advantages, a company should submit a BTD request as soon as possible, ideally before Phase 3 trials begin. When feasible, although uncommon, companies can seek BTD even based on Phase 1 findings. For example, at Parexel, our rare disease experts have helped clients design early phase clinical trials, such as dose-finding studies that include preliminary efficacy assessments to support BTD.
Our rare disease experts can help you navigate the complex regulatory landscape for rare disease drug development, as well as advise on all phases of clinical trials – including selecting optimal endpoints, engaging with patients, and utilizing innovation trial designs. Market access is another key area where our experts can provide guidance, including reimbursement challenges that may emerge.
Our partners in rare diseases
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Related insights
Blog
Understanding mental health challenges in rare disease
Mar 4, 2025
Whitepaper
Early and often: reimagining patient community engagement to improve clinical trials feasibility
Feb 27, 2025
Webinar
FDA Rare Disease Innovation Hub: Enhancing Collaboration and Speed?
Jan 7, 2025
Blog
Unpacking NICE’s review of the HST routing criteria: implications for manufacturers
Oct 3, 2024
Podcast
Enabling Successful Sites, Episode 3: Taking the complexity out of oncology clinical trials
Jun 28, 2024
Podcast
Enabling Successful Sites, Episode 2: Empowering Sites to be More Inclusive Through Cultural Sensitivity Training
Jun 28, 2024
Podcast
De-risking Drug Development | Episode 1: How to drive value in pre-clinical development
May 28, 2024
Podcast
Rare endpoints: Delivering on unmet patient needs
May 7, 2024
Blog
Accelerating Delivery and Patient Access to Rare Disease Treatments – Highlights from World Orphan Drug Congress
May 2, 2024
Blog
Adapting the validation process for PROs for rare diseases and other diseases with large unmet need and/or rapid progression
Apr 23, 2024
Blog
How sponsors can make it easier for rare disease patients and families to participate in trials
Feb 13, 2024
Blog
Studying rare cancer patient populations using integrated genomic and real-world data
Aug 30, 2023
Blog
Celebrating 40 Years of Rare Disease Progress: WODC Highlights
Jun 6, 2023
Report
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May 22, 2023
Playbook
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Feb 17, 2023
Blog
Rachel Smith joins Parexel as Executive Director and Head of the Rare Disease, Center of Excellence
Aug 10, 2022
Webinar
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Jul 21, 2022