Page 104 - Let them speak Towards a patient reported outcome measure set for

Chapter 5
to them. Gaining insight into these relevant PROs is therefore essential
for improving healthcare. To deliver patient-centred, high-quality care and
research, it is crucial to understand patients’ perspectives on their health.
PROs can be best measured with patient reported outcome measures
(PROMs), which are standardized questionnaires (25). PROMs can be
applied in various settings for multiple purposes. In routine care, they can
be used to monitor daily functioning, identify issues, and tailor treatment
goals accordingly. PROMs can highlight areas for symptom management
and opportunities for improvement (26). In research, PROMs can be used
to collect natural history data, identify treatment targets, and evaluate
interventions. The PRO data gathered with PROMs can further inform care,
research agendas, and policymaking, as well as drug approval processes
and pricing and funding of treatments (21).
Clinical trials involving individuals with (G)ID are increasingly using PROMs to
evaluate the impact of interventions on daily life. For instance, the Child Health
Questionnaire (CHQ) has been used to measure the effect of Glatiramer acetate
on quality of life (among other things) in individuals with Rett syndrome (27).
PROM use is also encouraged by patient organizations, regulatory agencies like
the European Medicines Agency (EMA) and the Food and Drug Administration
(FDA), and European initiatives such as the European Reference Networks to
capture patient perspectives on treatment impact (28-31).
To guide care, research, and policy, and identify suitable PROMs for the
whole (G)ID population, relevant PROs must first be identified and selected.
This selection process is challenging due to the complex and diverse
manifestations of ID with unknown origin, as well as the more than 1500
identified genetic and other aetiologies associated with ID, such as inborn
errors of metabolism, brain malformations, and perinatal complications
(32, 33). Recent studies demonstrated that a wide array of PROs are being
addressed in clinical trials (66 different PROs) and core outcome sets (22
different PROs) for individuals with (G)ID (34, 35)). This abundance of PROs
complicates data aggregation and comparison within and across (G)ID
groups, and raises concerns about whether the most relevant PROs are
being measured and treated for (G)ID.
102