There are over 7,000 rare and orphan diseases known to impact approximately 1 in 17 individuals globally, or 50 million in the EU and USA alone. The development of safe, effective, and accessible therapies against these diseases has been challenged by manufacturing, clinical and regulatory hurdles. Despite these obstacles, increased awareness, greater funding, and new research technologies are driving discoveries in this area. Join this webinar to learn how various research groups are working in this space.

Determining rare genetic disease patient populations using genetic databases
James Cook, PhD
Lead Genetic Epidemiologist
HealthLumen

Estimates for rare genetic disease prevalence are often based on reported patient numbers, but such estimates likely lead to an underestimation of prevalence. Genetic database analysis offers a powerful solution to address such data gaps, helping health authorities, pharma’ and biotech companies understand the true magnitude of the disease burden and potentially treat previously undiagnosed and untreated individuals.

To illustrate this, HealthLumen presents the findings of a genetic database analysis on the prevalence of late-onset Fabry disease in the US. Fabry disease is a rare X-linked lysosomal storage condition caused by pathogenic alleles in the GLA gene. As with many rare diseases, prevalence estimates for Fabry vary widely. This study used allele frequencies from the gnomAD v4.1 database, projected them to the 2024 US population, and applied penetrance data to calculate the number of symptomatic carriers. Findings reveal that Fabry prevalence may be three times higher than current estimates suggest, uncovering a large undiagnosed and untreated patient population.

The work highlights the potential of genetic database analysis to study rare genetic diseases and uncover latent population pools and is the first study to estimate the number of causal Fabry disease carriers and the symptomatic population in the US using these methodologies.

Getting to Know Rare Disease Patients Lived Experience: The First Step to Finding Treatment Options
Patricia Koochaki, PhD
Senior Principal, Patient Centered Outcomes
ICON

For many rare diseases, there is no published data or documentation of patients’ lived experiences with their disease, their unmet needs, or improvements that are important and would be meaningful to them to experience. This information provides a foundation upon which to develop new therapies, and clinical outcomes assessment measures used in clinical trials to assess the efficacy of new therapies for drug approval. This presentation will include a discussion on some of the key considerations for conducting qualitative research to understand patients’ lived experience with rare disease, including what data to collect, who to collect the data from, participant recruitment, methods for collecting the data, and where to collect the data.