Rare Diseases

EpidStrategies scientists have extensive experience assisting clients developing therapies for rare diseases. Our team of epidemiologists and statisticians has expertise in supporting orphan product development and regulatory submissions by providing an estimate of the target population size, characterizing rare patient populations, and identifying relevant clinical endpoints and potential safety concerns. EpidStrategies uses rigorous methodology and innovative study design to aid clients in the identification, description, and understanding of the prevalence and natural history of rare disease patients.

EpidStrategies’ expertise includes a diverse portfolio of projects elucidating the epidemiology of over 40 different indications and conducting more than 20 natural history studies of rare diseases or rare genetic subsets. Our rare disease capabilities span across the product lifecycle from early development to launch and post-marketing. Deliverables have included presentation of methodology and results to regulatory agencies and publication of findings in the scientific literature.

Core Rare Disease Services:

  • Estimate the incidence and prevalence of rare diseases using various strategies such as querying publicly available databases, collecting and analyzing primary data, conducting systematic literature reviews, or performing complex dynamic modeling
  • Design and conduct natural history studies of rare disease cohorts using electronic medical records (EMR), insurance claims data, and primary surveillance data
  • Identify and evaluate real-world external comparators and historical controls for clinical trials
  • Characterize the demographics, clinical characteristics, treatment patterns, outcomes, including potential adverse events, and healthcare utilization of rare disease populations
  • Prepare epidemiology sections of regulatory submissions such as Orphan Drug Applications for the Food and Drug Administration (FDA), European Medicines Agency (EMA), and United Kingdom Medicine and Healthcare products Regulatory Agency (UK MHRA)
  • Present epidemiologic methodology and study results at government agency meetings and at scientific meetings and congresses
  • Prepare abstract submissions, scientific poster presentations, and manuscripts for peer-reviewed publications following the guidelines of the International Committee of Medical Journal Editors (ICMJE)
  • Provide epidemiological and statistical support throughout the orphan product pipeline

Review our numerous publications related to rare diseases here.

See more on our rare disease experts.

Dr. Jon P. Fryzek, Principal Epidemiologist/Practice Director

Lauren Bylsma, Senior Epidemiologist