Challenges and Innovations in Rare Disease Clinical Research

For Rare Disease Day 2024, Rebecca Starkie, Senior Global Patient Engagement Director, Advanced Clinical, shares some patient insights and talks about the challenges and innovations in clinical research.

Rare conditions affect approximately 3.5-5.9% of the world’s population or some 300 million people. As of today, we know of over 7,000 diagnosable rare conditions; of these, 8 in 10 are genetic² and 7 in 10 start in childhood¹. This means that there is still an incredibly large unmet need within rare conditions as more than 9 in 10 are without a regulatory approved treatment³. Clinical research studies are of great importance as they are often the only route to find a suitable treatment and help meet the medical needs of rare disease patients now and in the future. 

Despite this clear unmet need for treatments, rare disease patients and their families often face obstacles when participating in clinical research studies. These can include challenges in obtaining a diagnosis in the first place, a general lack of awareness of rare disease research studies, and specific resources to find them. To address this, biopharmaceutical clinical research teams are increasingly deploying innovative approaches to identify rare disease patients to enable them to actively engage and participate in clinical research.

  • 300

    million people live with a rare condition

  • 7,000 +

    diagnosable rare conditions

  • 7 in 10

    rare conditions start in childhood

What are rare disease patients saying about clinical research?

Recently the clinical research company that I work for, Advanced Clinical, collaborated with an organisation that supports patients in finding clinical research studies, to better understand what rare disease patients and their families had to say about clinical research. 

We found it incredibly insightful that of those who responded to our survey, almost 8 in every 10 said they had never participated in a clinical study. This was due mostly to the fact that they weren’t aware of any studies to participate in, or their doctor hadn’t suggested one.

We also uncovered that many respondents would prefer that the option to participate in clinical research was presented to them early on in their diagnosis and treatment journey. 6 in 10 of all respondents wanted to know about a study as an alternative treatment option at the time of diagnosis or when starting treatment.

From the respondents that had previously participated in clinical research, their top 4 reasons to participate were:

  1. Helping others and advance research
  2. Accessing the leading specialists 
  3. The opportunity to be treated by cutting-edge therapies
  4. The ability to receive personalised care

In addition, 13 out of 14 people who had participated in a research study said that they would do so again. 

The survey respondents also stated that the option to participate in a clinical study from home was of importance to them, especially in many diseases where the ability or desire to travel is limited. Over 8 in 10 of responders felt that it is important or very important to have the option to participate in a study from home.

  • Almost 8 in 10

    had never participated in a clinical study

  • 13 out of 14

    who had participated in a research study said that they would do so again

  • Over 8 in 10

    felt that it is important to have the option to participate in a study from home

How is the biopharmaceutical industry trying to tackle these challenges?

The more conversations we have between patients and families and the biopharmaceutical industry, the better the outcomes for all. There is also a great opportunity for patient support groups to help assist with educational awareness about clinical research, aid in breaking down barriers to participation, as well as supporting patients with questions to ask doctors about specific research studies that patients can participate in.

Where patients and families prefer to take research related clinic visits at home, options include the use of telemedicine or research trained nurses that visit the patients’ home. Often research studies now offer patient support with travel to clinics when it is not possible to offer at-home care, such as a travel concierge service or the ability to reimburse for travel support. 

Final thoughts

While there is a long way still to go within clinical research to develop new and improved treatments to treat rare diseases, with the continued commitment of the biopharmaceutical industry and rare disease patients and their families combined, there are many new advancements on the horizon. As an industry, I feel that we value patients and their opinions, and that the time offered to participate in a research study helps to advance healthcare and the understanding of diseases, as well as ways to treat them.

Rebecca Starkie Senior Global Patient Engagement Director, Advanced Clinical

Much of Rebecca’s 26-year career in clinical research has focused on strategy and running clinical studies, with experience in managing studies across a variety of rare disease studies and all phases. Her most recent experience has been specifically around Patient Engagement, supporting biopharmaceutical companies with strategies for recruiting and engaging patients. Passionate about bringing patient engagement to the forefront with an entrepreneurial mindset and liking to think outside of the box, Rebecca holds both a BSc (Hons) Biochemistry and a Certificate in Clinical Research from The University of Leeds, England, U.K.


  1. Nguengang Wakap, S., Lambert, D.M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., Murphy, D., Le Cam, Y. and Rath, A. (2019). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics. [online] doi:



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