Page 17 - Let them speak Towards a patient reported outcome measure set for

General introduction
In research, PROMs provide valuable insights into disease progression and
the efficacy and safety of treatments, all from the perspective of patients or
their caregivers on their behalf (19). These data can subsequently be used
for different purposes, such as informing drug approval, treatment funding
decisions, and research priorities (36). Both the European Medicines
Agency (EMA) and the US Food and Drug Administration (FDA) support the
use of PROMs in medicine development and regulatory applications (37,
38). PROMs used as outcome measures must be psychometrically tested
on, for example, reliability, validity and responsiveness. If not, their ability
to accurately capture disease progression and treatment effects remains
uncertain.
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PRO(M)s for GID and its challenges
PROs and PROMs also hold promise for improving GID care and research.
In clinical care, the diverse and complex manifestations of GID can make it
challenging for healthcare professionals to identify and address individual
needs. Using PROMs in the daily routine care of ID care organizations or
expert centers for rare diseases helps identify individual needs and detect
health problems more quickly, enabling healthcare professionals to tailor
treatment accordingly. In research, PROMs are already used for GID to
capture patients’ perspectives on their health and treatment. For instance,
in studies involving individuals with Rett syndrome, PROMs (proxy-reports)
were used to assess symptoms and quality of life before and after treatment
(39-41), providing a better measure of treatment impact on the daily life of
patients.
Unfortunately, several challenges also still exist regarding the use of PROs
and PROMs for GID (Table 1). First, uncertainty remains regarding which
PROs are most relevant to individuals with GID. This uncertainty may lead
to the measurement of numerous, potentially irrelevant PROs. Identifying
relevant PROs is further complicated by the fact that many individuals with
GID, particularly those with severe or profound ID, are unable to self-report.
It also remains unclear which PROs are now most commonly measured in
the GID population. Second, selecting appropriate PROMs for individuals
with GID remains challenging. Many PROMs are lengthy and complex,
posing difficulties for affected individuals and their caregivers. Previous
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