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Patient-Reported Outcome Measures Are Key to Understanding Rare Diseases

Kelly Davio
Rare disease can significantly reduce patients’ quality of life, and the use of patient-reported outcome measures (PROMs) can be key to helping researchers understand how diseases and treatments impact quality of life and symptoms, according to a review newly published in the Orphanet Journal of Rare Diseases.
Rare disease can significantly reduce patients’ quality of life, and the use of patient-reported outcome measures (PROMs) can be key to helping researchers understand how diseases and treatments impact quality of life and symptoms, according to a review newly published in the Orphanet Journal of Rare Diseases.

PROMs, which are reports obtained directly from patients about their health or treatment, can be used in research or in the clinical setting to provide a patient perspective on a range of issues, or may be used to evaluate service delivery. Several health-related quality of life tools have been developed for rare diseases, including the phenylketonuria-specific quality-of-life questionnaire, several questionnaire related to birdshot chorioretinopathy, and the Fabry-specific pediatric health and pain questionnaire.

However, for rare diseases, a number of challenges exist in in utilizing PROMs. For example, there are a limited number of PROMs validated for some target populations, especially for children and adolescents, and small samples sizes may lead to issues with sampling, data collection, and statistical analysis.

The authors of the review explained a number of other considerations for the use of PROMs in rare diseases:

Understanding which data are most important

For PROMs to be effective, they should reflect the disease characteristics that matter most to the patient as well as the natural disease history and prognosis. Qualitative interviews may be a useful way to arrive at these core domains, and literature reviews, observational studies, and rare disease registries, as well as patient forums, blogs, and information from advocacy groups, will help to encapsulate patient viewpoints.

Using PROMs in patient registries

Incorporating PROMs in patient registries, which are often initiated by patient organizations, can improve understanding of the impact of symptoms and quality of life over the course of a disease and its treatment.

Selecting PROMs for research

Ensuring reliability, validity, and acceptability of PROMs is critical in selecting the right measures to use in rare diseases. When deciding on a PROM, the construct of interest should meet the aim of the study (eg, symptom burden or health-related quality of life). A systematic review may be needed to identify suitable PROMs. Databases such as ePROVIDE and the Patient-Reported Outcomes Measurement Information System (PROMIS) may also be useful in identifying appropriate measures.

Cultural adaptation

Participants recruited for clinical trials may be from multiple countries. Thus, PROMs will be required in multiple languages, and they will need cultural adaptations to ensure that the context and content of the PROM is appropriate for the given population.


Technological advancements make it possible for patients to complete PROMs electronically, which may help those with high symptom burden to submit their responses in the setting most convenient for them. Wearable technology and telehealth also present the opportunity to collect data without the patient needing to travel. PROMs can also be integrated into electronic health records as a way to improve patient care; a predetermined threshold for a particular measure may trigger a physician and patient notification that a follow-up visit is needed.

While collecting PROMs in patients with rare disease is not without challenges, the authors write, those hurdles are not unsurmountable, and collecting these data “potentially provides a more complete picture of their experiences and enables better communication with the clinical team.”


Slade A, Isa F, Kyte D, et al. Patient reported outcome measures in rare diseases: a narrative review [Published online April 23, 2018]. Orphanet J Rare Dis. doi: 10.1186/s13023-018-0810-x.

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