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

Shelly Benjaminy, Ian Macdonald, Tania Bubela

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)


Purpose:Ocular gene transfer clinical trials are raising patient hopes for the treatment of choroideremia - a blinding degenerative retinopathy. Phase I choroideremia gene transfer trials necessitate communicating about the risks of harm and potential benefits with patients while avoiding the sensationalism that has historically undermined this field of translational medicine.Methods:We conducted interviews between June 2011 and June 2012 with 6 choroideremia patient advocates, 20 patients, and 15 clinicians about their hopes for benefits, perceived risks of harm, and hopes for the time frame of clinical implementation of choroideremia gene transfer.Results:Despite the safety focus of phase I trials, participants hoped for direct visual benefits with evident discrepancies between stakeholder perspectives about the degree of visual benefit. Clinicians and patient advocates were concerned by limited patient attention to risks of harm. Interviews revealed confusion about the time frames for the clinical implementation of choroideremia gene transfer and patient urgency to access gene transfer within a limited therapeutic window.Conclusion:Differences in stakeholder perspectives about choroideremia gene transfer necessitate strategies that promote responsible communications about choroideremia gene transfer and aid in its translation. Strategies should counter historical sensationalism associated with gene transfer, promote informed consent, and honor patient hope while grounding communications in current clinical realities.

Original languageEnglish
Pages (from-to)379-385
Number of pages7
JournalGenetics in Medicine
Issue number5
Publication statusPublished - May 2014
Externally publishedYes


  • choroideremia
  • gene therapy
  • gene transfer
  • informed consent
  • phase I


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