Page 84 - Let them speak Towards a patient reported outcome measure set for

Chapter 4
PROs can be measured with patient reported outcome measures (PROMs),
which are standardized questionnaires completed by the patient or a
proxy on behalf of the patient (e.g., caregiver). With the anticipated wave
of innovative therapeutic interventions such as gene- and RNA-based
therapies for individuals with GID, identifying and measuring relevant PROs
with PROMs is becoming increasingly important (13). A growing number
of regulatory agencies, including the European Medicines Agency (EMA)
and the Food and Drug Administration (FDA), highlight the significance of
measuring PROs when evaluating the efficacy and safety of novel therapies
(14-16). Additionally, systematic monitoring of PROs in routine care can
contribute to the efficiency of GID care and interventions, which are often
time- and labor-intensive, especially with increasing scarcity of resources
and personnel (17).
Unfortunately, due to the complex and heterogeneous manifestations of
GID, selecting relevant PROs can be a challenge. As a solution, core outcome
sets (COSs), including PROs, are being developed for specific GIDs, like
Dravet syndrome (18). These are henceforth referred to as condition-
specific COSs. A COS is an agreed-upon, standardized set of relevant
outcomes that should be measured and reported in all clinical trials for a
specific condition (19), thereby facilitating the aggregation and comparison
of outcomes across patient groups with the same condition (20). However,
creating over 1500 condition-specific COSs for the currently identified 1500
GIDs is neither feasible or desirable. Moreover, with potentially more than
1500 different condition-specific COSs, the aggregation and comparison
of outcomes, including PROs, across various genetic subgroups will be
difficult. Also, since GIDs share many comorbidities, such as epilepsy (6),
sleeping disorders (21), and autism (7), this would enable harmonization
of PROs, facilitating the aggregation and comparison of PRO care and
research data both across and within GID groups. Therefore, the aim of this
study is to provide a comprehensive overview of PROs used for individuals
with GID by identifying (1) PROs used in clinical trials with individuals with
GID, and (2) PROs included in condition-specific COSs. This study serves
as an initial step toward the development of a generic core PRO set for GID
(22).
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