Page 47 - Let them speak Towards a patient reported outcome measure set for

Outcomes and instruments
in clinical trials70 (Table 3). First, it should be ensured that the construct
being measured is relevant to the patient. Including relevant outcomes
also contributes to recruitment and treatment compliance.28,67 Affected
individuals and representatives of the target population should be formally
involved in the choice of measured outcomes, while now involvement was
mentioned in only 2% of the clinical trials.
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Table 3. Recommendations, as provided by the authors, with regard to selecting outcomes and
outcome measurement instruments in clinical trials for individuals with GNDs and/or ID.
Considerations when
selecting outcomes and
instruments
Recommendations
What construct will be
measured?
What instrument(s) could be
used?
Is the instrument appropriate
for this
target population?
Who will be the reporter? Make sure the construct is relevant to the affected individual(s)
Formally involve affected individuals and/or representatives in
the selection of measured outcomes
Take into account measurement properties, such as validity,
reliability, and responsiveness to change
Consider PROMIS®, core outcome sets, NIH-TCB, ERICA
PROMs Repository
Consider using different types of outcome measurement
instruments, such as personalized measures, PROMs, and
biological or mechanistic measures, which may also be
relevant for translational research (e.g. measurable in animal
studies) to enable comparison of candidate drugs across
models and biomarkers
Take into account acceptability and feasibility to increase
recruitment and compliance Minimize study visits and burden
and maximize measurements in a natural setting (e.g. remote
measurements and experience sampling methods)
Attempt to (also) acquire information directly from the affected
individual, adapted to the level of functioning (e.g. smileys and
other symbols)
ERICA, European Rare Disease Research Coordination and Support Action consortium; GND,
genetic neurodevelopmental disorders; ID, intellectual disability; NIH-TCB, National Institutes of
Health Toolbox Cognitive Battery; PROM, patient-reported outcome measure; PROMIS, Patient-
Reported Outcomes Measurement Information System.
When selecting instruments, their acceptability, feasibility, and
measurement properties should be taken into account, for example, by
validation studies and using Consensus-based Standards for the Selection
of Health Measurement Instruments criteria71 (Table 3). For already over-
burdened caregivers, outcome measurement instruments can be time-
consuming to complete, and are often experienced as confronting due to
inappropriateness of questions, leading to poor acceptability.56 As such,
IRT-based item banks could be used to enable efficient measurement
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