Engaging Diverse Patient Populations in Rare Genetic Disease Clinical Research

Life Sciences, Clinical Trials, Patient Recruitment & Retention,
  • Thursday, December 03, 2020

When targeting rare genetic diseases for clinical trials or research, patient engagement is critical. In this webinar, join a panel of experts who will address proven and emerging ways to empower a diverse group of patients as critical stakeholders in clinical trials, leading to improved participation and more meaningful outcomes.

There are more than 2,500 gene-based therapies in the biotech pipeline, many of which are targeted for rare diseases. Clinical trials for these emerging therapies typically target very small patient populations, leading to significant challenges in the identification and enrollment of qualified patient participants. Biotech and pharmaceutical companies routinely reach out to patient advocacy groups, but don’t often know how best to support their efforts, or how to engage a diverse population of patients in the clinical trial development process.

In addition, the patient voice is often restricted to those who have the means to travel to academic research centers. Success in rare disease clinical trial enrollment and retention necessitates expanded access, more inclusive outreach strategies, and technology-driven solutions.

Topics of discussion will include:

  • Finding sufficient patients with rare genetic diseases for clinical trial enrollment
  • Effective partnerships between industry and patient foundations
  • The use of genetic testing in clinical trials
  • Embracing patient burden: listening to the needs of patients and addressing barriers to clinical trial participation
  • Diversity and inclusion: economic parity, breaking down geographic and historical ethnic barriers through community physician engagement and telemedicine services
  • Embracing the expertise of the rare disease community to help develop meaningful patient reported outcomes for clinical trial design
  • A “call to action” to engage a diverse population of patients and families in more meaningful ways, as rare disease families are experts in their disease and should be engaged both as the recipients and the primary stakeholders in the clinical development process



Lanya (Lane) McKittrick - Chair of the Board of the Usher Syndrome Coalition, Founder of Hear See Hope Foundation, Deafblind Education Researcher, Founder, Lane of Inquiry

Lane received her PhD in Special Education at the University of Northern Colorado, where she is an adjunct instructor in special education. Her research, advocacy and family support work are rooted in her personal experience as a mom to four sons, including two who have Usher Syndrome, the leading cause of deafblindness.

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Message Presenter

Steve Smith - President, Patient Advocacy, WCG

Steve is a seasoned patient advocate with an extensive career in software, consulting, process transformation, health care systems and patient-focused drug development. He joined WCG as President of Patient Advocacy in 2019 inspired by the incredible value to patients embedded in the wide range of WCG solutions that reduce the time and cost of clinical trials.

Steve’s strong sense of mission to increase the rate at which new treatments for disease can be developed to address unmet medical needs, is complemented by his conviction that we can develop drugs faster, while remaining safe. Paramount is the interests of patients whose needs include not only new medicines, but also quality of life. Steve is a parent of a child with MPS (Mucopolysaccharidosis) and an advocate for the MPS community.

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Message Presenter

Karmen Trzupek, M.S., CGC, Director of Clinical Trial Services, InformedDNA

Karmen first began working as a genetic counselor in 2001 at OHSU, specializing in inherited eye diseases and managing clinical research studies. In 2009, Karmen joined InformedDNA, where she developed the first national telemedicine program for ocular genetic counseling and genetic test coordination services. She has a longstanding passion for supporting patients with rare diseases and has managed multiple rare disease outreach programs in collaboration with patient foundations and pharmaceutical companies. Karmen now focuses on developing strategies and programs to increase efficiency of patient identification and enrollment initiatives for clinical trials.

Message Presenter

Who Should Attend?

VP, Director and senior level professionals from biopharmaceutical companies focused on rare disease therapies. Specific roles include:

  • Clinical Research
  • Clinical Operations
  • Translational Medicine
  • Patient Recruitment and Retention
  • Patient Advocacy

What You Will Learn

In this webinar, participants will learn:

  • Strategies for engaging diverse patient populations who have rare genetic diseases
  • Effective collaborative strategies between industry and patient advocacy organizations
  • Ways to reduce economic and geographic barriers to clinical trial participation

Xtalks Partner


Founded in 2007, InformedDNA is the leading authority on the appropriate use of genetic testing. With the largest, lab-independent staff of board-certified genetics specialists in the U.S., InformedDNA helps to ensure that pharmaceutical and biotech companies, clinicians, and patients all have access to the highest quality genetic services. Key offerings include strategic support for rare genetic disease clinical trial design; patient identification, recruitment, and support; physician engagement; clinical genetic counseling; and test ordering and interpretation services.

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