Page 34 - Let them speak Towards a patient reported outcome measure set for

Chapter 2
Noticeably, selection of outcome measures for a study has far-reaching
implications. Previous trials that did not demonstrate significant clinical
benefits based on the primary endpoints have been deemed ‘negative’ or
‘failed’ even though improvement on secondary endpoints or in clinical
subgroups may be present,28 as happened for clinical trials investigating
the effects of Arbaclofen in Fragile X syndrome.29,30 As such, inappropriate
outcomes or outcome measurement instruments can result in negative
results about the effectiveness of interventions, potentially meaning that
truly effective treatments do not become available to patients and their
families.20,31
The aim of this scoping review was to provide an overview of outcomes and
outcome measurement instruments selected in clinical trials in individuals
with ID and GNDs, measured by COAs focusing on neurological functioning,
mental and social functioning, and the overarching concepts of perceived
health and health-related quality of life (HR-QoL). The findings from this
scoping review may serve as a starting point for discussion about relevant
outcomes and outcome measurement instruments and result in a series of
steps and recommendations to move to a more unified approach in clinical
trials in individuals with ID and GNDs.
Methods
We followed the Preferred Reporting Items for Systematic Reviews and
Meta-Analysis (PRISMA) Protocols, and the PRISMA extension for Scoping
Reviews (PRISMA-ScR) checklist32,33 (see Supplemental Figure 1). The
methodological framework was posted in advance on the Open Science
Framework: https://osf.io/2zmxv/.
Eligibility
Clinical trials for any intervention were included in the review, including
comparative studies (randomized and non-randomized), single-case
trials and single-arm case series (retrospective and prospective), and trial
protocols. Validation and feasibility studies, and economic evaluations
were excluded. GNDs were defined as disorders with a genetic etiology
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