Improving Clinical Trials For Rare Diseases

Improving Clinical Trials For Rare Diseases

Rare diseases are a challenge to treat for several reasons. They’re challenging to recruit thanks to the nature of the “rare” occurrences, and the resulting small sample sizes seriously limit researchers’ opportunities to study such conditions, making it more difficult to pinpoint the cause and develop a treatment. Furthermore, if a patient agrees to participate in specific gene therapy procedures, it may exclude them from future clinical trials, Huang explains:

At the FLORetina-ICOOR meeting Nov/Dec 2023, Suber S. Huang, MD, MBA, explained:

“Rare disease is costly and is difficult to get into. But there is an immeasurable benefit to cure … that we must continue to strive for…

“Treatment-naive patients with [inherited retinal diseases] are rare, and enrollment in one gene therapy may have the unfortunate consequence of barring participation in a future therapy. So, recruitment is actually very difficult,”

Improving Clinical Trials For Rare Diseases 1

If these hurdles are overcome, regulatory bodies often get in the way. All these factors mean the likelihood of the treatments being expensive is high. As a result, sponsors that commonly provide funding for such endeavors face a much higher risk of losing out on the investment, especially when the treatments are, again, by their nature, more experimental.

For example, the industry surrounding inherited retinal disease in the USA is worth an estimated $31.8 billion. However, despite this substantial value, research barriers still slow progress and prevent the development of new treatment pathways, such as gene and cell therapies.

Despite the success of such research, which would provide invaluable benefits, the restrictive process required to find a cure and bring it to market still deters the research from being conducted. But if medical science can pioneer new methods that avoid some of these negative elements, then we will no doubt see a huge increase in the number of rare diseases that receive new and effective treatments.

Huang, founder and chair of the Future Vision Forum, a collaborative multidisciplinary meeting involving ophthalmology, the visual science industry, advocacy, and regulatory stakeholders, understands this need to change how we approach research into rare diseases.

In September, he made five recommendations that were issued to help improve the efficiency of clinical trials. Huang explained:

“The first is to develop clear standards for de-risking drug-, gene- and cell-based approaches to ocular therapeutics. We should all have the same playbook. No. 2, we should define a pathway by which unpublished, failed or non-statistically significant studies can contribute to a universal knowledge base for natural history or why things fail,”

The third and fourth recommendations were related to AI and machine learning, noting the importance of utilizing data sets that would typically be time-consuming and complex for humans. Huang continued:

“Let’s make sure that people could actually respond to therapy. AI could help with that. And lastly, we need to consider therapies for a spectrum of needs rather than a gene-specific model,” 

Other companies like the Indo-US Organization for Rare Diseases, or Indo-USRare,

are also beginning to implement strategies with the same goals. The company aims to set up clinical trials in countries with a higher incidence of a specific rare disease. It plans to utilize AI-enhanced tools for clinical trial management and communications between participating organizations.

Dr. Harsha Rajasimha, founder of IndoUSrare and Jeeva Clinical Trials, hopes the move will help overcome two major issues facing clinical trials logistics, administration, and ethnic diversity.

To achieve this, IndoUSrare plans to leverage Patient Advocacy Groups (PAGs) to Set up clinical trial sites abroad, integrate new AI-powered clinical management tools and involve nonprofits to bolster projects.

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