Shared Decision-Making, Control Preferences and Psychological Well-Being in Patients with RPE65 Deficiency Awaiting Experimental Gene Therapy

Abstract

Purpose: Retinal gene therapy trials are currently ongoing in a small number of inherited retinal disorders and this number is expected to rise significantly. The aim of this study was to analyze the psychological aspects of patients with RPE65 deficiency awaiting potential enrollment in gene therapy trials. Methods: Five patients with genetically proven RPE65 deficiency took part in this study. They were asked to complete the German versions of (i) the Patient Health Questionnaire (PHQ-D), (ii) the National Eye Institute Visual Function Questionnaire (NEI-VFQ), (iii) the Shared Decision Making Questionnaire (PEF-FB-9), and (iv) the Autonomy Preference Index (API-Dm), and in addition they took part in qualitative interviews. Results: The evaluations of the questionnaires and the interviews showed that the patients have quite high information needs and wish to take part in medical decisions. The perspective to participate in gene therapy trials does not seem to cause pronounced worries. Only the insecurity about if and when enrollment in a trial takes place may be burdensome. Discussion: This study generated important data about the psychological situation of patients awaiting potential enrollment in clinical trials, which can be used to improve patient care in the increasing number of future gene therapy trials around the world.

Patient and public perspectives on cell and gene therapies: a systematic review

“…Twenty-four of these papers related specifically to cell therapy while 11 pertained to gene therapy. Five of the included studies were conducted in the UK [12][13][14][15][16] , eight in the USA [17][18][19][20][21][22][23][24] , six in Canada [25][26][27][28][29][30] , two were conducted in Australia 31,32 and one each from Belgium 33 , China 34 , Germany 35 , Hungary 36 , Ireland 37 , Japan 38 , Korea 39 , South Korea 40 and Sweden 41 . One study included multiple countries across Europe 42 , three studies were set in Canada and USA [43][44][45] and one included Europe, USA and Canada 46 .…”

“…Participants with human immunodeficiency virus (HIV), in a study, were aware of the potential application of gene therapy in conditions like Parkinson's disease, yet few knew about its potential use in HIV/AIDS treatment 19 . A study conducted with a few young adults reported high levels of awareness of gene therapy 35 . The male gender and higher educational degrees were also associated with a higher level of knowledge on cell therapies in a mixed population of cancer patients and members of the public 33 .…”

“…Response rates: Of the 25 publications expected to report response rates (studies reviewing or re-analysing data may not have access to such data) only 10 (40%) did. Reported response rates were high (>75%) in five studies 15,31,40,41,47 , moderate in (50-60%) in two 23,35 and low in three studies (<30%) 13,29,38 .…”

“…particularly around whether the therapies would be disease limiting or disease reversing 12,21,33,39,40 . Some studies reported that patients were so eager to gain access to therapy, that they expressed minimal consideration for the potential side effects and had unrealistic expectations around the timescales for the availability of actual therapeutic options 21,25,33,35,39 . These patients tended to be male, older respondents with longer duration and greater severity of underlying condition 21,33,39,40 .…”

Stellungnahme von DOG, RG und BVA zur therapeutischen Anwendung von voretigene neparvovec (Luxturna™) in der Augenheilkunde

“…Weitergehende Übersichtsartikel zu den therapeutischen Strategien der Gentherapie wurden in deutscher Sprache im "Ophthalmologen" [2] sowie der "Zeitschrift für praktische Augenheilkunde" publiziert [13]. Die psychologische Situation der Patienten in Anbetracht der Möglichkeit einer Gentherapie wurde in einem Artikel von Nelles und Kollegen diskutiert [14].…”