There are over 7,000 orphan and rare 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. Watch to learn how various research groups are working in this space.
Determining rare genetic disease patient populations using genetic databases
James Cook, PhDLead Genetic EpidemiologistHealthLumenEstimates 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, PhDSenior Principal, Patient Centered OutcomesICONFor 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.
Key Topics Include:
- Why is understanding patients' lived experience with rare disease important?
- What are some considerations when developing a research plan to collect patient experience data in rare disease?
- What are some important methods to use to gain deep insights into rare disease patient experiences and unmet needs?
- Understand the limitations of current methods used to estimate the prevalence of rare genetic diseases.
- Illustrate how genetic database analysis can provide a more robust approach to accurately estimating rare genetic disease prevalence.
- Discuss study findings indicating that Fabry disease may be 3 times more prevalent than current estimates suggest, and the implications of this for Fabry diagnosis and treatment.
- Understanding genetic subgroups in populations is a key step towards informing the development and lifecycle extension of precision medicines e.g. by:
- Better defined TPPs (Target Product Profiles) and PICOs (Population, Intervention, Comparator, Outcome)
- Recruiting the most suitable patients for clinical trials
- Accurately sizing markets and health economic impacts
Presenters
James Cook
James is the Lead Genetic Epidemiologist at HealthLumen. His work focuses on the epidemiology of rare genetic diseases, in particular the calculation of prevalence and penetrance of these diseases across populations using large genetic databases and biobanks.
Before joining HealthLumen, James was a Bioinformatician at Genomics England specializing in the analysis of rare disease, where he led and undertook large research projects using the 100,000 Genomes Project dataset. Prior to this James completed postdoctoral positions in Genetic Epidemiology at the University of Leicester, and in Statistical Genetics at the University of Liverpool. James holds a PhD in Environmental and Preventive Medicine from Barts & the London School of Medicine and Dentistry.
Patricia Koochaki
Patricia Koochaki is a Senior Principal in ICON’s PCO Group research team and is based in Cincinnati, Ohio, with over 30 years' experience in outcomes research. Prior to joining ICON in 2017, Pat was a Principal Scientist at the Procter and Gamble (P&G) Company, with 26 years of research experience in pharmaceuticals, consumer healthcare, and pet health and nutrition.
At ICON Pat has led research in many therapeutic areas, including rare diseases, women’s health, urology, rheumatology, oncology, allergy, and immunology. She has expertise and experience in qualitative and mixed-methods research, including interviewing patients participating in clinical trials, understanding patient experiences/patient journeys, patient satisfaction and preference studies, development and validation of clinical outcomes assessments, concept elicitation and cognitive interviewing, clinical trial endpoint strategy development, gap analysis, conceptual model development, and regulatory dossier development.
Pat is particularly interested in understanding rare disease patient journeys and patient burden to use as a foundation for developing fit-for-purpose clinical outcomes assessment measures. Pat is currently collaborating with team members from ICON’s Centre for Rare Disease to explore new avenues to progress research on rare disease patients’ lived experience and unmet needs.
Pat holds a PhD in Biochemistry, from University of Cincinnati, College of Medicine, was a Postdoctoral Fellow in the Chemistry Department and an Associate Professor of Chemistry at University of Cincinnati. Pat brings her deep technical understanding coupled with a passion for understanding patient experiences, defining patient unmet therapeutic needs, and understanding how therapies impact patients’ quality of life and satisfaction and acceptance of new therapies.
Sponsor
HealthLumen
ICON
Content Partners
Scientist.com
Scientist.com is the world’s largest and first platform built for the intricacies of scientific outsourcing.
We help pharmaceutical and biotechnology organizations discover, engage, manage, and scale relationships with the providers that support every stage of the pipeline—from discovery and preclinical research to clinical development, manufacturing, medical affairs, and commercialization. Through a centralized platform, organizations can access a global network of 6,000+ providers, streamline sourcing and procurement workflows, maintain compliance, manage supplier relationships, and leverage data-driven insights to make faster, more informed decisions.
Today, Scientist.com supports more than 130 life science organizations, including 24 of the world's top 30 pharmaceutical companies, helping teams reduce operational complexity, accelerate timelines, and bring innovations to patients faster. Our mission is to make it possible to cure all human disease by 2050.
