Patient and clinician opinions of patient reported outcome measures (PROMs) in the management of patients with rare diseases: a qualitative study.

BACKGROUND: Rare diseases may be life-threatening or chronically debilitating conditions. Patient care needs are often complex and challenging to coordinate and deliver effectively. Rare diseases and their clinical management may therefore substantially impact on patients' health-related quality of life (HRQOL). The use of patient-reported outcome measures (PROMs) may complement clinical assessments by elucidating patients' perspectives on their health status and care priorities. This study explored the opinions of patients and clinicians on the use of PROMs in the management of patients with rare diseases in routine clinical practice. METHODS: A total of 15 semi-structured one-to-one interviews were conducted with four patients with primary sclerosing cholangitis (PSC); five renal transplant recipients; and six PSC doctors from University Hospitals Birmingham (UHB) NHS Foundation Trust. A focus group session was also conducted with 10 clinical staff members (doctors, nurses and other allied health professionals from UHB). The suitability and acceptability of the Chronic Liver Disease Questionnaire (CLDQ) and the Short Form 12 (SF12) were assessed by patients with PSC and their doctors while the Paediatric quality of life inventory Transplant Module (PedsQL-TM) and the EuroQoL-5 dimensions (EQ. 5D) were evaluated by the renal transplant recipients and their doctors. The discussions were audio recorded and transcribed verbatim. Coding of the transcripts was done using the Nvivo 11 Plus software. Thematic analysis was conducted to identify the main themes and subthemes. RESULTS: Four themes were identified, namely: (i) potential benefits of PROMs in the management of rare diseases; (ii) views on selected questionnaires; (iii) practical considerations for implementation; and (iv) potential facilitators and barriers of implementation. Patients and clinicians suggested that the use of ePROMs may facilitate patient-centred care by promoting patient-clinician communication, highlighting aspects of HRQOL that are important to patients and encouraging patient involvement in their care. They also felt that the disease-specific CLDQ and PedsQL-TM were more relevant than the generic SF12 and EQ-5D. CONCLUSIONS: Patients with rare diseases often experience impaired HRQOL. The use of an ePROM system may enhance the routine management of patients with rare diseases.

Patient-reported outcome measures used in patients with primary sclerosing cholangitis: a systematic review.

BACKGROUND: Primary Sclerosing Cholangitis (PSC) is a rare chronic, cholestatic liver condition in which patients can experience a range of debilitating symptoms. Patient reported outcome measures (PROMs) could provide a valuable insight into the impact of PSC on patient quality of life and symptoms. A previous review has been conducted on the quality of life instruments used in liver transplant recipients. However, there has been no comprehensive review evaluating PROM use or measurement properties in PSC patients' to-date. The aim of the systematic review was to: (a) To identify and categorise which PROMs are currently being used in research involving the PSC population (b) To investigate the measurement properties of PROMs used in PSC. METHODS: A systematic review of Medline, EMBASE and CINAHL, from inception to February 2018, was undertaken. The methodological quality of included studies was assessed using the Consensus-based Standards for selection of health Measurement Instruments (COSMIN) checklist. RESULTS: Thirty-seven studies were identified, which included 36 different PROMs. Seven PROMs were generic, 10 disease-specific, 17 symptom-specific measures and 2 measures on dietary intake. The most common PROMs were the Short form-36 (SF-36) (n = 15) and Chronic liver disease questionnaire (CLDQ) (n = 6). Only three studies evaluated measurement properties, two studies evaluated the National Institute of Diabetes Digestive and Kidney Diseases Liver Transplant (NIDDK-QA) and one study evaluated the PSC PRO; however, according to the COSMIN guidelines, methodological quality was poor for the NIDDK-QA studies and fair for the PSC PRO study. CONCLUSION: A wide variety of PROMs have been used to assess health-related quality of life and symptom burden in patients with PSC; however only two measures (NIDDK-QA and PSC PRO) have been formally validated in this population. The newly developed PSC PRO requires further validation in PSC patients with diverse demographics, comorbidities and at different stages of disease; however this is a promising new measure with which to assess the impact of PSC on patient quality of life and symptoms.

Dietary consumption and diet diversity and risk of developing bladder cancer: results from the South and East China case-control study.

BACKGROUND: The epidemiologic evidence on the role of dietary consumption on the risk of bladder cancer in the Chinese population is limited. We investigated the role of dietary consumption and diet diversity on the risk of developing bladder cancer within a Chinese population. METHODS: A case-control study of 487 cases and 469 controls was conducted in four hospitals in China. A food frequency questionnaire was used to gather information on the consumption of 35 food items. Unconditional logistic regression models were used to derive odds ratios (ORs) and corresponding 95 % confidence intervals (95 % CI) for the relationship between dietary factors, dietary diversity scores, and bladder cancer. RESULTS: The ORs of bladder cancer for red meat (OR = 1.8, 95 % CI:1.1-3.0;p(trend) = 0.01), organ meat (OR = 1.6, 95 % CI:0.9-2.9;p(trend) = 0.04), leafy vegetables (OR = 2.9, 95 % CI:1.6-5.4;p trend = 0.003), bulb vegetables (OR = 2.3, 95 % CI:1.3-4.0;p(trend) = 0.003), and preserved vegetables (OR = 2.3, 95 % CI:1.2-4.2;p(trend) = 0.02) were significantly increased when comparing the highest to lowest level of consumption. The ORs for white fresh fish (OR = 0.5, 95 % CI:0.3-0.9;p(trend) = 0.004), citrus fruits (OR = 0.4, 95 % CI:0.3-0.8;p(trend) = 0.007), stone fruits (OR = 0.4, 95 % CI:0.2-0.6;p(trend) < 0.001), vine fruits (OR = 0.5, 95 % CI:0.2-1.0;p(trend) = 0.02), flower vegetables (OR = 0.3, 95 % CI:0.2-0.6;p(trend) < 0.001), potatoes (OR = 0.4, 95 % CI:0.2-0.9;p(trend) = 0.005), or dairy products (OR = 0.4, 95 % CI:0.3-0.7;p(trend) < 0.001) were significantly decreased when comparing the highest to lowest level of consumption. Subjects with the highest total diet diversity (OR = 0.4, 95 % CI:0.2-1.1;p(trend) = 0.02) and fruit diversity (OR = 0.1, 95 % CI:0.0-0.3;p(trend) < 0.001) had reduced ORs of and compared to subjects with the lowest diversity. CONCLUSION: Our results indicate that a diet with higher total diet diversity and in particular fruit diversity may reduce the risk of bladder cancer.

Patient reported outcome measures in rare diseases: a narrative review.

BACKGROUND: Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and understanding the efficacy of therapeutic interventions. Patient reported outcome measures (PROMs) are used to capture the patient's views about their health status and facilitate our understanding of the impact of these diseases and their treatments on patient's quality of life and symptoms. MAIN TEXT: This review explores some of the current issues around the utilisation of PROMs in rare diseases, including small patient populations and dearth of valid PROMs. Difficulties in validating new or current PROMs for use in clinical trials and research are discussed. The review highlights potential solutions for some of the issues outlined in the review and the implementation of PROMs in research and clinical practice are discussed. CONCLUSION: Patient input throughout the development of PROMs including qualitative research is essential to ensure that outcomes that matter to people living with rare disease are appropriately captured. Given the large number of rare diseases, small numbers of patients living with each condition and the cost of instrument development, creative and pragmatic solutions to PROM development and use may be necessary. Solutions include qualitative interviews, modern psychometrics and resources such as item banking and computer adaptive testing. Use of PROMs in rare disease research and clinical practice offers the potential to improve patient care and clinical outcomes.

International pooled study on diet and bladder cancer: the bladder cancer, epidemiology and nutritional determinants (BLEND) study: design and baseline characteristics.

BACKGROUND: In 2012, more than 400,000 urinary bladder cancer cases occurred worldwide, making it the 7(th) most common type of cancer. Although many previous studies focused on the relationship between diet and bladder cancer, the evidence related to specific food items or nutrients that could be involved in the development of bladder cancer remains inconclusive. Dietary components can either be, or be activated into, potential carcinogens through metabolism, or act to prevent carcinogen damage. METHODS/DESIGN: The BLadder cancer, Epidemiology and Nutritional Determinants (BLEND) study was set up with the purpose of collecting individual patient data from observational studies on diet and bladder cancer. In total, data from 11,261 bladder cancer cases and 675,532 non-cases from 18 case-control and 6 cohort studies from all over the world were included with the aim to investigate the association between individual food items, nutrients and dietary patterns and risk of developing bladder cancer. DISCUSSION: The substantial number of cases included in this study will enable us to provide evidence with large statistical power, for dietary recommendations on the prevention of bladder cancer.