Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community

Swezey, Teresa; Reeve, Bryce B.; Hart, Tracy; Floor, Marianne; Dollar, Christina M.; Gillies, Austin P.; Tosi, Laura L.

doi:10.1007/s00198-018-4690-7

Cited by 20 publications

(24 citation statements)

References 18 publications

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“…It is crucial to partner with and listen to patients and caregivers early and systematically to identify meaningful treatment outcomes that resonate with their experience, preferences, expectations and values and compensate for a lack of natural history knowledge [ 5 , 7 , 56 ]. Patient or patient representative involvement via, for example, discussions or interviews can be used to explore and prioritize patients’ health concerns for a given RD [ 19 , 57 ] and can help develop an understanding of natural history as much as possible. This approach can be used to identify the most common symptoms among patients and what they consider most important [ 58 ].…”

Section: Resultsmentioning

confidence: 99%

“…More sensitive and responsive than generic and disease-family PROMs; more likely to capture meaningful outcomes Cannot make comparisons across patient groups [12] Use both a generic and a disease-specific instrument for RDs in a complementary way [12] Feasible with additional challenges: This could be a very valuable solution, but it depends on the specific HTA body and the type of data they are willing to accept; if an HTA agency only wants preference-based generic PROMs, the impact of adding disease-specific measures will likely be minimal HTA bodies would need to account for both generic and disease-specific instruments equally Too much outcome measure heterogeneity from disease-specific measures hinders the ability to reliably/reproducibly capture significant change in disease [19] Consider the following general approach for RDs: develop a variety of measures with the same basic presentation that include some features of generic measures, and add appropriate disease-specific aspects [13] Probably not feasible: Tailoring PROMs to each condition would require significant time and resources HTA bodies would need to account for both generic and disease-specific instruments equally [15]. Therefore, a primary challenge is to identify a PROM that has the most appropriate content possible, as well as a method of data collection in which patients can realistically participate [23].…”

Section: Use Of Generic Promsmentioning

confidence: 99%

“… The number of studies is insufficient, which makes it difficult to obtain representative samples in literature reviews [ 18 ]. Many issues that are important to patients are not captured with existing measures/methods [ 19 ]. Existing value frameworks largely fall short of consistently measuring outcomes that matter to patients [ 16 ].…”

Section: Introductionmentioning

confidence: 99%

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The Use of Patient-Reported Outcome Measures in Rare Diseases and Implications for Health Technology Assessment

Whittal

Meregaglia

Nicod

2021

Patient

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Background Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses unique challenges because of small patient populations, disease heterogeneity, lack of natural history knowledge, and short-term studies. Objective This research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs). Methods A scoping review of scientific and grey literature was conducted, with no date or publication type restrictions. Information on the advantages of and the challenges and potential solutions when using different types of PROMs for RDTs, including psychometric properties, was extracted and synthesized. Results Of 79 records from PubMed, 32 were included, plus 12 records from the grey literature. PROMs for rare diseases face potential data collection and psychometric challenges resulting from small patient populations and disease heterogeneity. Generic PROMs are comparable across diseases but not sensitive to disease specificities. Disease-specific instruments are sensitive but do not exist for many rare diseases and rarely provide the utility values required by some HTA bodies. Creating new PROMs is time and resource intensive. Potential solutions include pooling data (multi-site/international data collection), using computer-assisted technology, or using generic and disease-specific PROMs in a complementary way. Conclusions PROMs are relevant in HTA for RDTs but pose a number of difficulties. A deeper understanding of the potential advantages of and the challenges and potential solutions for each can help manage these difficulties.

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Section: Resultsmentioning

confidence: 99%

Section: Use Of Generic Promsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The Use of Patient-Reported Outcome Measures in Rare Diseases and Implications for Health Technology Assessment

Whittal

Meregaglia

Nicod

2021

Patient

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“…Regular data gathering provides support for optimised and comprehensive care strategies, but also allows the creation of data banks, which are extremely limited in OI. Our belief is that exhaustive data collection on a cohort that seems to be one of the largest in Europe can increase knowledge and improve patient care [9].…”

Section: Discussionmentioning

confidence: 99%

“…By adopting an interdisciplinary approach, we aimed at sharing information and educating patients and family members, as well as recent knowledge and therapeutic advances. We hypothesised that such a global "concept" would improve patients' management and outcomes, including musculoskeletal health, physical activity and quality of life [7][8][9]. The interdisciplinary approach for OI patients was created in 2012 (referred as to the "OI CHUV" group), with two primary goals: (1) to provide each and every patient with the same initial evaluation, the same access to genetic testing and the same follow up; (2) to assess the impact of this OI CHUV management on patients' physical activity and quality of life.…”

Section: Introductionmentioning

confidence: 99%

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life

Aubry‐Rozier¹,

Richard²,

Unger³

et al. 2020

Swiss Med Wkly

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BACKGROUND: This report describes a new strategy for the care of patients with osteogenesis imperfecta, based on an interdisciplinary team working. Thereby, we aim at fulfilling three main goals: offering thorough coordinated management for all, and improving physical activity and quality of life of the patients. AIM: With rare diseases such as osteogenesis imperfecta (OI), patients and their family often suffer from inadequate recognition of their disease, poor care coordination and incomplete information. A coordinated interdisciplinary approach is one possible solution for providing both comprehensive and cost-effective care, with benefits for patient satisfaction. Poor physical activity and impaired quality of life represent a considerable burden for these patients. To better address these issues, in 2012 we created an interdisciplinary team for the management of OI patients in our University Hospital Centre (CHUV, Lausanne University Hospital,). In this article we describe the implementation of this interdisciplinary care strategy for patients suffering from OI, and its impact on their physical activity and quality of life.METHODS: All patients from the French part of Switzerland were invited to join us. We proposed two complementary evaluations: the initial interdisciplinary evaluation and a yearly follow-up during a special day -the "OI day". This day features specialised medical appointments adapted to each patient's needs, as well as lectures and/or workshops dedicated to patients' and families' education. Our first aim was to propose for each patient the same management, from diagnosis to the bone health evaluation and physical therapy advice. Our second aim was to evaluate the evolution of physical activity, quality of life (measured by EQ-5D, SF-36 and a dedicated questionnaire) and satisfaction of patients and their families. Here we report both the initial and the long-term results. RESULTS: Since 2012, 50 patients from the French part of Switzerland received the personalised medical evaluation. All of the patients included in this study had the same initial evaluation and at least one participation in an OI Day. All patients had an adaptation of their bone acting drugs. Over a 7-year period, 62% of inactive patients started some physical activity, and 44% of patients who were not involved in any athletic activity started participating in sports. The mean EQ-5D increased from 0.73 to 0.75 (p = 0.59). The mean physical SF36 (musculoskeletal function) score was 59.09 ± 22.72 and improved to 65.79 ± 21.51 (p = 0.08), whereas it was 68.06 ± 20.05 for the mental SF36 without alteration during follow-up. The OI day was revealed to be useful, it contributed to improvement in continuity of care and helped families to better understand the OI patients' health. CONCLUSIONS: Our interdisciplinary approach aimed at offering the same thorough management for all patients from the French part of Switzerland, and at improving both the physical activity and the satisfaction of the patients and their family. This rep...

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Patient‐reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta

LoTurco

Carter

McInerney

et al. 2022

American J of Med Genetics Pt A

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Patient‐reported concerns indicate that gastrointestinal (GI) manifestations affect the skeletal dysplasia population, but quantitative information regarding prevalence and severity of GI issues is limited. We examined the frequency and characteristics of GI symptoms in adults with skeletal dysplasias by reviewing 101 responses to the Gastrointestinal Symptom Rating Scale (GSRS). Participant demographics, medication history, and ambulatory status were collected from medical records. Compared to published GSRS reference data, our cohort scored higher on reflux, diarrhea, and total scores, and lower on abdominal pain and indigestion scores; none of these differences were statistically significant. Although osteogenesis imperfecta respondents had more severe symptoms across all domains, only reflux reached significance (p = 0.009). Scores in patients with achondroplasia were higher for indigestion, constipation, diarrhea, and total scores and lower on abdominal pain and reflux scores than the general population; only the diarrhea score was significant (p = 0.034). There were no statistically significant differences in any of the domain or total GSRS scores across ambulatory status groups. Increased height correlated with worse abdominal pain domain score (p = 0.033). The number of medications positively correlated with total GSRS score (p = 0.013). Future studies should include larger numbers of individuals to allow a more in‐depth analysis of patient‐reported symptoms and signs within this population.

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Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community

Abstract: This work will help guide the incorporation of PROs into the next phase of the BBDC Natural History Study of OI and underscores the importance of including PROs in the study of rare diseases.

Cited by 20 publications

References 18 publications

The Use of Patient-Reported Outcome Measures in Rare Diseases and Implications for Health Technology Assessment

The Use of Patient-Reported Outcome Measures in Rare Diseases and Implications for Health Technology Assessment

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life

Patient‐reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta

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