“The biggest shifts in rare disease clinical research are occurring in platform and basket trials, which from the perspective of small and mid-sized biotechs, remain highly complicated in terms design and in statistical requirements”, says George Tetz, CEO New York-based biotech Second Life Therapeutics.
Tetz made these remarks at Arena International’s 3rd Annual Clinical Trials in Rare Diseases (CTRD) meeting, during a panel discussing the future of rare disease clinical trials along with Bruce Bloom, Rare Disease Community Liaison at AI-powered biotech Healx and CEO of the rare disease biotech Fortuity Pharma. The meeting took place on 17-18 September in Princeton, New Jersey, US.
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Platform trials offer flexibility and allow multiple therapies to be tested simultaneously, but they also come with challenges and remain under-represented outside of oncology, said Tetz, at the CTRD meeting. According to him, oncology basket trials have enabled tumour-agnostic approvals by demonstrating responses across as many as 17 tumor types. However, many trials that studied rare cancers lacked the statistical power to show significance, highlighting both the promise and the limitations of this approach, Tetz added.
Basket, platform, and umbrella trials have value beyond oncology, particularly in neurodevelopmental diseases that share similar phenotypes, said Bloom. While it is difficult to secure investment to develop therapies for a single rare neurodevelopmental disorder, developing a therapy that could impact multiple rare indications could offer economies of scale and stronger commercial value, he said. “By creating outcome measures across patient populations with overlapping symptoms, we can ensure important indications are not overlooked,” Bloom added.
From a regulatory standpoint, improvements in biomarkers alone are insufficient if they do not correlate to measurable benefits in terms of quality of life, Bloom said. This is a significant additional challenge in populations with lower cognitive function who cannot provide self-assessments, and where capturing meaningful improvements in quality of life measures require indirect caregiver or clinical subjective assessment, Bloom added.
Use of AI in rare disease research
Artificial intelligence (AI) already has multiple applications across therapeutic development. Bloom highlighted that AI can be utilised in many ways, including for reviewing submissions to reduce bias, ensuring consistency in responses, testing hypotheses, assessing endpoints, optimising dosing, and improving participant selection. AI and other enhancements in therapy development should also eventually allow for trials to have appropriate dose titration protocols. In this way, AI tools are beginning to help tailor treatments more effectively, said Bloom.
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By GlobalDataTetz emphasised that we are in a “golden age” of biotechnology, with unprecedented access to large amounts of data, which are now paired with advancing AI capabilities. Tetz noted that major contract research organisations (CROs) like IQVIA already leverage AI recruitment platforms, while independent AI recruitment platforms enable even smaller CROs to remain competitive.
AI can also with natural history data. “Once you predict how the disease will develop, then regulators will accept single-arm studies better,” Tetz noted.
Beyond trials, AI empowers patients and caregivers by improving access to reliable information, enhancing education and engagement in their care.
AI can also help salvage drugs that have failed in late-stage trials where possible. AI tools could help identify and validate responsive subgroups, enabling therapies to reach at least some patient populations rather than being shelved entirely, says Bloom. If AI technologies could help determine why the therapy worked for these subpopulations, it could help find additional molecules that could help the original therapy work for a larger portion of the disease population, he added.
Amidst the advancements in the field, sponsors can face certain challenges when working with tight timelines, and limited budgets and resources, to bring a drug to market. Selecting top investigators and well-equipped medical centers to move drugs to market quickly, becomes the priority of sponsors, said Tetz, sometimes at the expense of inclusivity and diversity. Recruiting from underrepresented hospitals can improve diversity, but that often comes with higher dropout rates and inconsistent data collection, making it difficult to strike a balance, he said.
