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Four things we can do to help treat rare diseases

Defined as affecting fewer than five in 10,000 people, rare diseases are by nature difficult to research. Clinical trials and regulation of new treatments are usually designed around more common conditions, so are often unsuitable for research on rare diseases.

However, in the UK alone, rare diseases are believed to affect 3.5 million people. They disproportionately affect children and in 30% of cases, patients die before their fifth birthday, so new treatments are urgently needed.

Advances in areas of cutting-edge biomedical science, such as genomic medicine, means that many more rare diseases can be identified and better understood, and potential new treatments developed. But how can we translate this opportunity into better outcomes for patients and families?

Our FORUM workshop, held in partnership with the Faculty of Pharmaceutical Medicine, brought together scientists, clinicians, patients and families, with representatives from industry and regulators. They discussed how to run innovative, successful clinical trials on rare diseases to develop treatments that can bring improvements for patients and their loved ones.

Here are some of their most important ideas:

Support for patients and families

Living with a rare disease can bring many challenges. While joining a trial can have advantages for patients as they have the chance to receive a potentially useful medicine, it can also have drawbacks. Participating in a trial for a rare disease usually means being treated at a specialist centre, which may be far from home. Patients and their families therefore need free and convenient travel and accommodation. Alternatively, ways of enabling patients to take part in trials locally or from home, such as remote monitoring, were discussed.

Patients who took part in the FORUM workshop said that researchers needed to communicate better with patients’ local health and care practitioners. They also called for better communication with researchers to help patients and families understand clinical trials and the implications of participating. The FORUM unanimously agreed that all parties need to do all they can to minimise the barriers and burden for patients joining clinical trials.

Alternative outcome measures

Choosing the outcomes that will be used to measure the effectiveness of a new treatment will have a key role in the success of the trial and its subsequent impact on patients’ lives. Researchers are increasingly able to identify biomarkers – biochemical signals that can indicate changes in the course of a disease at the earliest possible stage. On the other hand, patients and their families can explain the outcomes that are most important to them, for example being well enough to go to school or work.

The FORUM workshop highlighted the importance of discussing the most useful outcomes to increase awareness of the options and of including patients early in those discussions. Participants also thought it would be possible to develop a set of core outcomes that could apply across many rare diseases. This could save time and speed up research.

Innovative trial designs

The standard approach of a randomised controlled trial is not working for people with rare diseases, but there are alternatives that make research quicker and more effective. This includes umbrella trials, where several different treatment approaches can be assessed in one go, and basket trials, where a new treatment is offered to patients with different diseases that have common biological mechanisms. It also includes adaptive trials, where the design of the trial can respond and change as results accumulate; treatments that are not working can be stopped and more patients can be randomised to promising treatments.

Trials can also make use of datasets routinely collected about patients’ health from a variety of sources – so-called ‘real-world’ data – to, for example, help validate elements of a clinical trial’s design such as the outcome measures before it starts.

FORUM participants agreed that these innovations have obvious potential for research in rare diseases, but they said more work is needed to build education and confidence in their use – for example, through the communication of successful case studies.

Cooperation and collaboration

All parties need to work together to design better trials. Clinical trials are often run by pharmaceutical companies and, as businesses, they can sometimes be nervous about sharing information and resources. However, FORUM participants agreed that companies can and should work together to build a foundation of resources and information about a rare disease to support clinical trials, as at this pre-trial stage companies are not in direct competition with each other. For example, to find enough patients with any rare disease, trials need to run internationally; this means disease registries are useful to help find enough participants, and triallists must collaborate across borders. Collaborations between companies and patient organisations to set up disease registries can be of mutual benefit. The workshop clearly demonstrated the benefits of bringing together the parties involved in clinical research in ensuring trials are relevant, practical and more likely to succeed.

The virtual FORUM workshop on 'clinical trials for rare and ultra-rare diseases' was held on Thursday 24 March and Wednesday 30 March 2022, hosted jointly by the Academy of Medical Sciences and the Faculty of Pharmaceutical Medicine. It was co-chaired by Professor Alan Boyd FMedSci, CEO, Boyd Consultants and Dr Zoya Panahloo, Chair of FPM Rare Disease and Gene Therapy Expert Group & Senior Medical Director Rare Disease, UCB. Participants included patients, carers, and representatives from industry, patient advocacy groups, regulators, healthcare and more. The workshop report and summaries can be found on the right of this page.

Georgina Abbott, parent of a child with Niemann-Pick Type C, said: “As a parent of a child with a rare disease that is both life limiting and without a cure, that diagnosis makes one feel powerless. This workshop has brought back a little piece of that power in terms of actively being involved in potentially making a change to the future of clinical trials for rare disease and therefore the future of people with rare diseases.”

Professor Boyd said: “This workshop has uncovered many barriers that hinder trials in rare diseases and identified solutions that will help us run more successful trials. The message is clear: we can’t carry on as normal, we need to learn from experience, to think differently and change our approach.”

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