Table 5.
Results of the round 1 and 2 modified Delphi consensus process relating to treatment decisions.
| ID | Statement | Rank,* n | Verdict | Mean consensus score† | ||
|---|---|---|---|---|---|---|
| Agreement | Neutral | Disagreement | ||||
| Patient involvement | ||||||
| 5A‡ | Patients should be given an overview of all suitable available therapies | 13 | 0 | 0 | Consensus (agreement) | 1.8 |
| 5B‡ | Patients should be encouraged to be involved in shared decision-making when starting, changing, or stopping therapy | 13 | 0 | 0 | Consensus (agreement) | 1.8 |
| 5C‡ | Patient choice should be taken into consideration in regard to any decision to start therapy, change therapy, or stop therapy | 13 | 0 | 0 | Consensus (agreement) | 1.6 |
| Treatment initiation | ||||||
| 6A‡ | Male patients may be started on migalastat if they have evidence of Fabry-related symptoms and an amenable mutation | 13 | 0 | 0 | Consensus (agreement) | 1.6 |
| 6B‡ | Female patients may be started on migalastat if they have evidence of Fabry-related symptoms and an amenable mutation | 13 | 0 | 0 | Consensus (agreement) | 1.6 |
| 6C‡ | Female patients with classic mutations that are amenable to migalastat should commence treatment if they have evidence of organ involvement | 13 | 0 | 0 | Consensus (agreement) | 1.6 |
| 6D | Male patients may be started on migalastat if they have evidence of Fabry-related organ involvement and an amenable mutation | 13 | 0 | 0 | Consensus (agreement) | 1.5 |
| 6E | Female patients may be started on migalastat if they have evidence of Fabry-related organ involvement and an amenable mutation | 13 | 0 | 0 | Consensus (agreement) | 1.5 |
| 6F‡ | Patients with classic or late-onset Fabry disease may both be started on migalastat if they have evidence of Fabry-related symptoms and an amenable mutation | 13 | 0 | 0 | Consensus (agreement) | 1.5 |
| 6G‡ | Male and female patients with late-onset mutations that are amenable to migalastat should commence treatment if they have evidence of organ involvement | 13 | 0 | 0 | Consensus (agreement) | 1.5 |
| 6H‡ | Patients with classic or late-onset Fabry disease may both be started on migalastat if they have evidence of organ involvement and an amenable mutation | 13 | 0 | 0 | Consensus (agreement) | 1.4 |
| 6I‡ | Female patients may be started on migalastat in the presence of a classic Fabry mutation, amenable to migalastat, if they have at least one Fabry-related symptom | 13 | 0 | 0 | Consensus (agreement) | 1.4 |
| 6J‡ | Migalastat and enzyme replacement therapy should follow the same guidelines and recommendations when it comes treatment cessation | 13 | 0 | 0 | Consensus (agreement) | 1.3 |
| 6K | Family history should be considered when deciding whether to initiate treatment, but is not the only factor for this decision | 13 | 0 | 0 | Consensus (agreement) | 1.3 |
| 6L | Male patients may be started on migalastat in the presence of a classic Fabry mutation, amenable to migalastat, even in the absence of organ involvement | 12 | 1 | 0 | Consensus (agreement) | 1.3 |
| 6M | There should be a single set of treatment guidelines and recommendations to follow for initiation and cessation of both treatments for Fabry disease (migalastat and enzyme replacement therapy), including criteria such as amenability and enzyme activity measurements | 10 | 1 | 2 | Consensus (agreement) | 0.8 |
| Treatment switch/stop | ||||||
| 7A | When considering whether to switch or stop treatment in patients with Fabry disease, treatment compliance, patient-reported outcomes, and patient choice should be taken into account | 13 | 0 | 0 | Consensus (agreement) | 1.5 |
| 7B | Migalastat treatment should be continued in patients with stable or improving Fabry-related symptoms, even if they show no improvement in organ function from baseline | 12 | 1 | 0 | Consensus (agreement) | 1.2 |
| 7C | Deterioration of renal, neurological, or cardiac organ function (or architecture) from baseline on two consecutive readings at least 6 months apart is an indication to consider switching ERT or migalastat treatment due to lack of efficacy | 11 | 1 | 1 | Consensus (agreement) | 1 |
| 7D | Deterioration of symptoms alone from baseline on two consecutive readings at least 6 months apart is not an indication to consider stopping or switching treatment; organ involvement, patient-reported outcomes, and patient choice should also be considered | 11 | 1 | 1 | Consensus (agreement) | 0.9 |
| 7E | Patients with stabilization or improvement from baseline in ≥1 organ should consider remaining on treatment, even if function of another organ deteriorates | 11 | 1 | 1 | Consensus (agreement) | 0.9 |
*The number of panelists with a Likert scale rank of agreement (“agree” or “strongly agree”), neutral (“neither agree nor disagree”), or disagreement (“disagree” or “strongly disagree”) for each statement are presented; †Strongest agreement = 2, strongest disagreement = –2; ‡Indicates statement reached consensus in round 1.
ERT, enzyme replacement therapy.