Measuring health-related quality of life in patients with rare disease

Lenderking, William R.; Anatchkova, Milena D.; Pokrzywinski, Robin; Skalicky, Anne; Martin, Mona L.; Gelhorn, Heather L.

doi:10.1186/s41687-021-00336-8

Cited by 20 publications

(10 citation statements)

References 15 publications

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“…PROMs are highly effective for ensuring the patient voice informs best practice care [ 22 , 23 ]. The collection of PROMs by RDRs offers the potential to improve patient care and clinical outcomes [ 21 , 24 ]. Nonetheless, only 40% RDRs reported capturing PROMs in our study.…”

Section: Discussionmentioning

confidence: 99%

Informing a national rare disease registry strategy in Australia: a mixed methods study

Ruseckaite,

Caruso,

Mudunna

et al. 2023

BMC Health Serv Res

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Background Rare disease registries (RDRs) facilitate monitoring of rare diseases by pooling small datasets to increase clinical and epidemiological knowledge of rare diseases and promote patient centred best practice. The aim of this study was to understand the current state of RDRs in Australia, data captured, impact on patient outcomes, funding models, and barriers and enablers regarding their establishment and maintenance. Methods An exploratory sequential mixed methods study design was adopted. First, a list of Australian RDRs, primary contacts and data custodians was generated through online and consumer group (Rare Voices Australia (RVA)) contacts. A cross-sectional, anonymous online survey was distributed to registry custodians, managers, or principal investigators of 74 identified Australian RDRs, 88 RVA Partners, 17 pharmaceutical organizations and 12 RVA Scientific and Medical Advisory Committee members. Next, managers and coordinators of RDRs and databases who participated in the survey were invited to participate in semi-structured interviews. Quantitative and qualitative data were analysed using basic descriptive statistics and content analysis, respectively. Results Forty RDRs responded to the survey; nine were national, five were based in Australia and New Zealand, and the remaining were global. Of the 40 survey respondents, eight were interviewed. Most of the RDRs captured similar information regarding patient characteristics, comorbidities and clinical features, diagnosis, family history, genetic testing, procedures or treatment types, response to treatments and complications of treatments. Better treatment outcomes, changes in process of care and changes in quality of care were the most frequently reported benefits of the RDRs. The main challenges proved to be cost/funding of data collection, data completeness, and patient consent. When asked, the participants identified opportunities and challenges regarding potential options to streamline RDRs in Australia in the future. Conclusion Findings from this study highlighted significant dataset heterogeneity based on the individual disease, and current lack of interoperability and coordination between different existing RDRs in Australia. Nevertheless, a nationally coordinated approach to RDRs should be investigated given the particular benefits RDRs offer, such as access to research and the monitoring of new disease-modifying treatments.

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Section: Discussionmentioning

confidence: 99%

Informing a national rare disease registry strategy in Australia: a mixed methods study

Ruseckaite,

Caruso,

Mudunna

et al. 2023

BMC Health Serv Res

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“…However, the scarcity of valid QoL PROMs and ObsROMs for most rare diseases and the challenges of validating the current available tools, pose a problem to adequately appraise potential treatments. Creative and pragmatic solutions are warranted to overcome difficulties related to small patient cohorts, the cost of tools’ development, and the urgency for making new therapies available [ 4 , 5 ].…”

Section: Discussion and Future Perspectivesmentioning

confidence: 99%

“…Concerning rare diseases, the study of QoL is challenging due to methodological issues as well as to limited literature on those conditions. Small patient populations, disease heterogeneity and scarcity of medical knowledge and specialists hamper the understanding of the burden of these diseases [ 4 , 5 ]. This highlights the importance of ensuring a community-centric approach, including the professionals’ experience and the patients’ voice.…”

Section: Introductionmentioning

confidence: 99%

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Pascoal

Ferreira

Teixeira

et al. 2022

Orphanet J Rare Dis

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Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences. There are no approved therapies for this condition. Also, there are no validated disease-specific quality of life (QoL) scales to assess the heterogeneous clinical burden of PMM2-CDG which presents a challenge for the assessment of the disease severity and the impact of a certain treatment on the course of the disease. Aim and methods This study aimed to identify the most impactful clinical signs and symptoms of PMM2-CDG, and specific patient and observer reported outcome measures (PROMs and ObsROMs, respectively) that can adequately measure such impact on patients’ QoL. The most burdensome signs and symptoms were identified through input from the CDG community using a survey targeting PMM2-CDG families and experts, followed by family interviews to understand the real burden of these symptoms in daily life. The list of signs and symptoms was then verified and refined by patient representatives and medical experts in the field. Finally, a literature search for PROMs and ObsROMs used in other rare or common diseases with similar signs and symptoms to those of PMM2-CDG was performed. Results Twenty-four signs/symptoms were identified as the most impactful throughout PMM2-CDG patients’ lifetime. We found 239 articles that included tools to measure those community-selected PMM2-CDG symptoms. Among them, we identified 80 QoL scales that address those signs and symptoms and, subsequently, their psychometric quality was analysed. These scales could be applied directly to the PMM2-CDG population or adapted to create the first PMM2-CDG-specific QoL questionnaire. Conclusion Identifying the impactful clinical manifestations of PMM2-CDG, along with the collection of PROMs/ObsROMs assessing QoL using a creative and community-centric methodology are the first step towards the development of a new, tailored, and specific PMM2-CDG QoL questionnaire. These findings can be used to fill a gap in PMM2-CDG clinical development. Importantly, this methodology is transferable to other CDG and rare diseases with multiple signs and symptoms.

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“…Gathering meaningful data on the HRQoL of people with rare diseases is especially challenging, [41][42][43] and GPP is no exception. Many of the studies identified in this SLR had limitations, including a very small population size and reporting limited data of interest, as they had not been designed with the specific goal of measuring HRQoL in people with GPP.…”

Section: Investigating the Hrqol And Severity Of Symptoms In People W...mentioning

confidence: 99%

Health‐related quality of life in patients with generalized pustular psoriasis: A systematic literature review

Choon,

De La Cruz,

Wolf

et al. 2023

Acad Dermatol Venereol

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Generalised pustular psoriasis (GPP) is a rare, chronic, neutrophilic inflammatory skin disease characterised by episodes of widespread eruption of sterile, macroscopic pustules that can be accompanied by systemic inflammation and symptoms. A systematic literature review and narrative synthesis were conducted to determine the impact of GPP on patients’ health‐related quality of life (HRQoL) and patient‐reported severity of symptoms, and to compare its impact to patients with plaque psoriasis (plaque PsO). Searches were undertaken in Embase, MEDLINE, and the Cochrane Library from January 1st, 2002 to September 15th, 2022. Screening was carried out by two reviewers independently. Outcome measures included generic (e.g. EQ‐5D, SF‐36) and dermatology‐specific (e.g. DLQI) clinical outcome assessments, and other relevant patient‐reported outcome measures (PROMs) (e.g. severity of pain measured by a numerical rating scale). Overall, 20 studies were found to be eligible for inclusion, of which seven also had data for plaque PsO. The DLQI was the most frequently reported outcome measure (16/20 studies). When reported, mean DLQI(SD) scores varied from 5.7 (1.2) to 15.8 (9.6) across the studies, indicating a moderate to very large effect on HRQoL; the wide range of scores and large SDs were explained by the small population sizes (n ≤12 for all studies except two). Similar ranges and large SDs were also observed for other measures within individual studies. However, in general, people with GPP reported a greater impact of their skin condition on HRQoL, when compared to people with plaque PsO (i.e. higher DLQI scores) and higher severity for itch, pain and fatigue. This systematic review highlighted the need for studies with a larger population size, a better understanding of the impact of cutaneous and extracutaneous symptoms and co‐morbidities on HRQoL during and between GPP flares, and outcome measures specifically tailored to the unique symptoms and the natural course/history of GPP.

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Measuring health-related quality of life in patients with rare disease

Cited by 20 publications

References 15 publications

Informing a national rare disease registry strategy in Australia: a mixed methods study

Informing a national rare disease registry strategy in Australia: a mixed methods study

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Health‐related quality of life in patients with generalized pustular psoriasis: A systematic literature review

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