#BIOSPAIN2023Interview | "Patients with a rare disease face a large number of unmet needs"

We talk about the role of patients in developing solutions for rare diseases with Annabel de Maria, Chief Patient Officer at Alira Health, Gold Sponsor of BIOSPAIN 2023.


A disease is classified as "rare" when it affects a limited number of the total population, which in Europe is defined as fewer than five cases per 10,000 people. The latest estimates by the World Health Organization (WHO) indicate that there are around 7,000 rare diseases, of which between 4,000 and 5,000 have no known treatment.

Although the majority of rare diseases have an unknown origin, two-thirds of them are of genetic origin. This is why rare diseases and the challenges faced by people living with a rare disease are gradually becoming a political priority for the United Nations and an area of action for the WHO. The goal is to achieve greater health equity and leave no one behind.

In this context, the role played by the patients themselves in the development of solutions for rare diseases is fundamental, as the rarity of the disease results in limited attention and resources. It is precisely this limitation that reinforces the need for these patients to participate actively in all stages, from seeking a diagnosis to choosing a possible treatment.

Rare disease patients must be involved in every stage of product development to ensure a clinically impactful benefit that addresses important unmet patient needs from their perspective. The participation of these patients in the design of clinical trials is vital, but it poses one of the major challenges for companies that, at times, do not know where to include these patients and their caregivers.

It is also important to highlight that patient involvement is key to the successful commercialization of new drugs and medical devices in the case of rare diseases, as rare disease patients are experts in their condition.

This topic is analyzed in collaboration with Annabel de Maria, Chief Patient Officer at Alira Health, a global healthcare firm whose mission is to humanize healthcare and life sciences in partnership with patients. Alira Health is a Gold Sponsor of BIOSPAIN 2023, an internationally renowned event in the biotechnology sector.

AseBio. Placing the patient at the centre is crucial for the development of medical treatments, but why is it even more important in the case of rare diseases?

Annabel de María. Biotech companies developing drugs for rare diseases face three major challenges: limited knowledge about these diseases; a small heterogeneous patient population that is geographically dispersed; and trial endpoints that might not be meaningful to patients. Placing patients at the center of product development can reduce or even eliminate these challenges.

In rare diseases, patients have high unmet needs that vary from one disease to another. Nobody understands these diseases and the unmet needs better than patients. Their input is vital to finding a solution that addresses the patient’s clinical issues as well as quality of life and disease burden. Biotech companies must engage with patients to document their journey in detail (including timeline, unmet needs, pain points) to fully understand their perspective and incorporate that into research priorities and development plans.  

AseBio. What negative consequences can arise from not failing to involve patients in every stage of drug development?

Annabel de María. Companies can fail to recruit enough patients into a clinical trial, especially if the trial is designed without taking patient needs into account. For example, if the protocol requires patients to travel to a trial site or spend days in a hospital, that might be impractical due to the nature of the disease, family circumstances, financial considerations, or other issues. 

If a company has to change protocols to suit patient needs, they will have to resubmit to regulators, which delays progress and increases costs. Early patient engagement before trial design means a higher likelihood of regulatory success and is proven to reduce the time to launch. Patient engagement also helps boost adherence post-launch.
AseBio. When and how should a company engage patients in the product development process?

Annabel de María. Companies should engage patients at the pre-clinical trial stage, ideally. Patients can help select meaningful clinical endpoints and develop sensitive and specific outcome measures. Patient Reported Outcomes (PROs) may be used as endpoints in rare disease trials due to the negative impacts these diseases have on quality of life for patients and families. Patients can advise on the practical issues of how a trial will be executed, such as scheduling and location. Patient associations – known as Patient Advocacy Groups (PAGs) – can connect companies with patients, provide input on the patient perspective, and help uncover unmet needs. PAGs can also assist with trial recruitment.

Patient engagement is an ongoing activity of building relationships with patients and gathering meaningful information. All departments should understand the value and contribute to these goals.     

AseBio. What are the best practices for engaging patients at the clinical stage specifically?

Annabel de María. During the creation of the Clinical Development Plan, gather input from patients that helps set research priorities. As appropriate, talk to solution providers about technology, such as eConsent, connected devices, and patient portals, that may decrease identified patient burden.  Then co-create a feasible solution with patients. Leverage patient input and feedback to develop useful patient materials. Later, close the loop with these patients by sharing clinical trial results, including plain language summaries.

Recruitment for clinical trials is while a PAG can help, sometimes a disease is so little known or even “ultra-rare” that it has no organization of its own. In that case, look for an umbrella PAG that covers a more general but related condition. 
Create many opportunities for patients to provide feedback before, during, and after the trial. This also helps you to stay in contact with patients over the long years of drug development, especially given that treatments, patient experiences, and the priorities for a rare disease can change. 

AseBio. As a patient-centric company, what does participating in an event like BIOSPAIN 2023 mean for you?

Annabel de María. With hundreds of biotech companies participating and thousands of attendees at Biospain 2023, we’re excited to discuss patient engagement with many innovators targeting rare diseases. It’s an opportunity to spread the word about what we believe is crucial to success: involving patients at every stage of drug development to ensure that their voices are heard and their valuable input results in effective treatments.