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"Is a cure in my sight?" Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials

Shelly Benjaminy1, Ian Macdonald2, Tania Bubela1

  • 1School of Public Health, University of Alberta, Edmonton Clinic Health Academy, Edmonton, Alberta, Canada.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 28, 2013
PubMed
Abstract

Insights

Patient hopes for ocular gene transfer in choroideremia (a blinding retinopathy) trials differ from clinical realities. Responsible communication is crucial to manage expectations and ensure informed consent for this gene therapy.

Area of Science:

  • Ophthalmology
  • Genetics
  • Translational Medicine

Background:

  • Choroideremia is a blinding degenerative retinopathy.
  • Ocular gene transfer trials offer hope for choroideremia treatment.
  • Phase I trials require careful communication of risks and benefits.

Purpose of the Study:

  • To explore stakeholder perspectives on ocular gene transfer for choroideremia.
  • To understand hopes for benefits, perceived risks, and implementation timelines.
  • To identify communication challenges in gene transfer trials.

Main Methods:

  • Interviews conducted with choroideremia patient advocates, patients, and clinicians.
  • Explored hopes for benefits, perceived risks, and implementation time frames.
  • Data collected between June 2011 and June 2012.

Main Results:

  • Participants desired direct visual benefits, with differing views on the extent of improvement.
  • Clinicians and advocates noted patient underestimation of risks.
  • Confusion existed regarding gene transfer timelines and patient urgency.

Conclusions:

  • Discrepancies in stakeholder views necessitate improved communication strategies for ocular gene transfer.
  • Responsible communication should counter sensationalism and promote informed consent.
  • Balancing patient hope with clinical realities is essential for successful translation.

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