TY - STD TI - Global Genes. Rare diseases: facts and statistics. https://globalgenes.org/rare-diseases-facts-statistics/. Accessed 2 Nov 2017. UR - https://globalgenes.org/rare-diseases-facts-statistics/ ID - ref1 ER - TY - STD TI - EURORDIS. The voice of rare disease patients in Europe. https://www.eurordis.org/about-eurordis. Accessed 15 Sept 2017. UR - https://www.eurordis.org/about-eurordis ID - ref2 ER - TY - STD TI - Limb L, Nutt S, Sen A. Experiences of rare diseases: an insight from patients and families: UK RD; 2010. https://www.raredisease.org.uk/media/1594/rduk-family-report.pdf. Accessed 9 Sept 2017. UR - https://www.raredisease.org.uk/media/1594/rduk-family-report.pdf ID - ref3 ER - TY - STD TI - EMA. Orphan medicines in the EU-leaving no patient behind. 2017. Accessed 8 Jan 2018. ID - ref4 ER - TY - JOUR AU - Johansen, H. AU - Dammann, B. AU - Andresen, I. -. L. AU - Fagerland, M. W. PY - 2013 DA - 2013// TI - Health-related quality of life for children with rare diagnoses, their parents’ satisfaction with life and the association between the two JO - Health Qual Life Outcomes VL - 11 UR - https://doi.org/10.1186/1477-7525-11-152 DO - 10.1186/1477-7525-11-152 ID - Johansen2013 ER - TY - JOUR AU - Schalet, B. D. AU - Pilkonis, P. A. AU - Yu, L. AU - Dodds, N. AU - Johnston, K. L. AU - Yount, S. AU - Riley, W. AU - Cella, D. PY - 2016 DA - 2016// TI - Clinical validity of PROMIS depression, anxiety, and anger across diverse clinical samples JO - J Clin Epidemiol VL - 73 UR - https://doi.org/10.1016/j.jclinepi.2015.08.036 DO - 10.1016/j.jclinepi.2015.08.036 ID - Schalet2016 ER - TY - JOUR AU - Spillmann, R. C. AU - McConkie-Rosell, A. AU - Pena, L. AU - Jiang, Y. -. H. AU - Schoch, K. AU - Walley, N. AU - Sanders, C. AU - Sullivan, J. AU - Hooper, S. R. AU - Shashi, V. PY - 2017 DA - 2017// TI - A window into living with an undiagnosed disease: illness narratives from the undiagnosed diseases network JO - Orphanet J Rare Dis VL - 12 UR - https://doi.org/10.1186/s13023-017-0623-3 DO - 10.1186/s13023-017-0623-3 ID - Spillmann2017 ER - TY - STD TI - EURORDIS. The Voice of 12,000 Patients: Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe: EURORDIS Rare Diseases Europe; 2009. https://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf. Accessed 9 Sept 2017 UR - https://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf ID - ref8 ER - TY - JOUR AU - Angelis, A. AU - Tordrup, D. AU - Kanavos, P. PY - 2015 DA - 2015// TI - Socio-economic burden of rare diseases: a systematic review of cost of illness evidence JO - Health Policy VL - 119 UR - https://doi.org/10.1016/j.healthpol.2014.12.016 DO - 10.1016/j.healthpol.2014.12.016 ID - Angelis2015 ER - TY - JOUR AU - Silibello, G. AU - Vizziello, P. AU - Gallucci, M. AU - Selicorni, A. AU - Milani, D. AU - Ajmone, P. F. AU - Rigamonti, C. AU - De Stefano, S. AU - Bedeschi, M. F. AU - Lalatta, F. PY - 2016 DA - 2016// TI - Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public Centre for rare diseases in northern Italy JO - Ital J Pediatr VL - 42 UR - https://doi.org/10.1186/s13052-016-0285-0 DO - 10.1186/s13052-016-0285-0 ID - Silibello2016 ER - TY - JOUR AU - Dellve, L. AU - Samuelsson, L. AU - Tallborn, A. AU - Fasth, A. AU - Hallberg, L. R. PY - 2006 DA - 2006// TI - Stress and well-being among parents of children with rare diseases: a prospective intervention study JO - J Adv Nurs VL - 53 UR - https://doi.org/10.1111/j.1365-2648.2006.03736.x DO - 10.1111/j.1365-2648.2006.03736.x ID - Dellve2006 ER - TY - JOUR AU - Benjamin, K. AU - Vernon, M. K. AU - Patrick, D. L. AU - Perfetto, E. AU - Nestler-Parr, S. AU - Burke, L. PY - 2017 DA - 2017// TI - Patient-Reported Outcome and Observer-reported outcome assessment in rare disease clinical trials - emerging good practices: an ISPOR COA emerging good practices report JO - Value Health VL - 7 UR - https://doi.org/10.1016/j.jval.2017.05.015 DO - 10.1016/j.jval.2017.05.015 ID - Benjamin2017 ER - TY - STD TI - Sabino G, Mills A, Jonker A, Lau LPL, Aartsma-Rus A, Arora J, Calvert M, Cano SJ, Denegri S, Hass S et al. Patient-centered outcome measures in the field of rare Diseases 2016. http://www.irdirc.org/wp-content/uploads/2017/12/PCOM_Post-Workshop_Report_Final.pdf. Accessed 2 Sept 2017. UR - http://www.irdirc.org/wp-content/uploads/2017/12/PCOM_Post-Workshop_Report_Final.pdf ID - ref13 ER - TY - JOUR AU - Rotenstein, L. S. AU - Huckman, R. S. AU - Wagle, N. W. PY - 2017 DA - 2017// TI - Making patients and doctors happier — the potential of patient-reported outcomes JO - N Engl J Med VL - 377 UR - https://doi.org/10.1056/NEJMp1707537 DO - 10.1056/NEJMp1707537 ID - Rotenstein2017 ER - TY - STD TI - FDA. Guidance for industry. Patient-Reported Outcome Measures: Use in Medical Product Development to Support Labeling Claims. US Department of Health and Human Services. 2009. http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM193282.pdf. Accessed 7 Nov 2017. UR - http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM193282.pdf ID - ref15 ER - TY - JOUR AU - Howell, D. AU - Molloy, S. AU - Wilkinson, K. AU - Green, E. AU - Orchard, K. AU - Wang, K. AU - Liberty, J. PY - 2015 DA - 2015// TI - Patient-reported outcomes in routine cancer clinical practice: a scoping review of use, impact on health outcomes, and implementation factors JO - Ann Oncol VL - 26 UR - https://doi.org/10.1093/annonc/mdv181 DO - 10.1093/annonc/mdv181 ID - Howell2015 ER - TY - BOOK AU - Streiner, D. L. AU - Norman, G. R. PY - 2008 DA - 2008// TI - Health measurement scales: a practical guide to their development and use, 4th edn PB - Oxford University Press CY - Oxford UR - https://doi.org/10.1093/acprof:oso/9780199231881.001.0001 DO - 10.1093/acprof:oso/9780199231881.001.0001 ID - Streiner2008 ER - TY - JOUR AU - Hendriksz, C. J. AU - Lavery, C. AU - Coker, M. AU - Ucar, S. K. AU - Jain, M. AU - Bell, L. AU - Lampe, C. PY - 2014 DA - 2014// TI - Burden of disease in patients with Morquio a syndrome: results from an international patient-reported outcomes survey JO - Orphanet J Rare Dis VL - 9 UR - https://doi.org/10.1186/1750-1172-9-32 DO - 10.1186/1750-1172-9-32 ID - Hendriksz2014 ER - TY - JOUR AU - Patrick, D. L. AU - Burke, L. B. AU - Powers, J. H. AU - Scott, J. A. AU - Rock, E. P. AU - Dawisha, S. AU - O'Neill, R. AU - Kennedy, D. L. PY - 2007 DA - 2007// TI - Patient-reported outcomes to support medical product labeling claims: FDA perspective JO - Value Health VL - 10 UR - https://doi.org/10.1111/j.1524-4733.2007.00275.x DO - 10.1111/j.1524-4733.2007.00275.x ID - Patrick2007 ER - TY - JOUR AU - Basch, E. AU - Geoghegan, C. AU - Coons, S. PY - 2015 DA - 2015// TI - Patient-reported outcomes in cancer drug development and US regulatory review: perspectives from industry, the food and drug administration, and the patient JO - JAMA Oncol VL - 1 UR - https://doi.org/10.1001/jamaoncol.2015.0530 DO - 10.1001/jamaoncol.2015.0530 ID - Basch2015 ER - TY - STD TI - EMA. Appendix 2 to the guideline on the evaluation of anticancer medicinal products in man. The use of patient-reported outcome (PRO) measures in oncology studies: EMA; 2016. http://www.ema.europa.eu/docs/en_GB/document_library/Other/2016/04/WC500205159.pdf. Accessed 29 Jan 2018 UR - http://www.ema.europa.eu/docs/en_GB/document_library/Other/2016/04/WC500205159.pdf ID - ref21 ER - TY - STD TI - EMA. Reflection Paper on the use of patient reported outcome (PRO) measures in oncology studies: European Medicines Agency CfMPfHUC; 2014. http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2014/06/WC500168852.pdf. Accessed 8 Jan 2018 UR - http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2014/06/WC500168852.pdf ID - ref22 ER - TY - JOUR AU - Calvert, M. AU - Kyte, D. AU - Duffy, H. AU - Gheorghe, A. AU - Mercieca-Bebber, R. AU - Ives, J. AU - Draper, H. AU - Brundage, M. AU - Blazeby, J. AU - King, M. PY - 2014 DA - 2014// TI - Patient-reported outcome (PRO) assessment in clinical trials: a systematic review of guidance for trial protocol writers JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0110216 DO - 10.1371/journal.pone.0110216 ID - Calvert2014 ER - TY - JOUR AU - Deshpande, P. R. AU - Rajan, S. AU - Sudeepthi, B. L. AU - Abdul Nazir, C. P. PY - 2011 DA - 2011// TI - Patient-reported outcomes: a new era in clinical research JO - Perspect Clin Res VL - 2 UR - https://doi.org/10.4103/2229-3485.86879 DO - 10.4103/2229-3485.86879 ID - Deshpande2011 ER - TY - JOUR AU - Cohen, J. S. AU - Biesecker, B. B. PY - 2010 DA - 2010// TI - Quality of life in rare genetic conditions: a systematic review of the literature JO - Am J Med Genet A VL - 152A UR - https://doi.org/10.1002/ajmg.a.33380 DO - 10.1002/ajmg.a.33380 ID - Cohen2010 ER - TY - JOUR AU - Varni, J. W. AU - Seid, M. AU - Rode, C. A. PY - 1999 DA - 1999// TI - The PedsQL: measurement model for the pediatric quality of life inventory JO - Med Care VL - 37 UR - https://doi.org/10.1097/00005650-199902000-00003 DO - 10.1097/00005650-199902000-00003 ID - Varni1999 ER - TY - JOUR AU - Ravens-Sieberer, U. AU - Herdman, M. AU - Devine, J. AU - Otto, C. AU - Bullinger, M. AU - Rose, M. AU - Klasen, F. PY - 2014 DA - 2014// TI - The European KIDSCREEN approach to measure quality of life and well-being in children: development, current application, and future advances JO - Qual Life Res VL - 23 UR - https://doi.org/10.1007/s11136-013-0428-3 DO - 10.1007/s11136-013-0428-3 ID - Ravens-Sieberer2014 ER - TY - JOUR AU - Bosch, A. M. AU - Burlina, A. AU - Cunningham, A. AU - Bettiol, E. AU - Moreau-Stucker, F. AU - Koledova, E. AU - Benmedjahed, K. AU - Regnault, A. PY - 2015 DA - 2015// TI - Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-015-0294-x DO - 10.1186/s13023-015-0294-x ID - Bosch2015 ER - TY - JOUR AU - Regnault, A. AU - Burlina, A. AU - Cunningham, A. AU - Bettiol, E. AU - Moreau-Stucker, F. AU - Benmedjahed, K. AU - Bosch, A. M. PY - 2015 DA - 2015// TI - Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-015-0261-6 DO - 10.1186/s13023-015-0261-6 ID - Regnault2015 ER - TY - JOUR AU - Barry, J. A. AU - Folkard, A. AU - Denniston, A. K. AU - Moran, E. AU - Ayliffe, W. PY - 2014 DA - 2014// TI - Development and validation of quality-of-life questionnaires for birdshot Chorioretinopathy JO - Ophthalmology VL - 121 UR - https://doi.org/10.1016/j.ophtha.2014.01.007 DO - 10.1016/j.ophtha.2014.01.007 ID - Barry2014 ER - TY - JOUR AU - Zhang, H. AU - Wang, L. AU - Quan, M. AU - Huang, J. AU - Wu, P. AU - Lu, Q. AU - Fang, Y. PY - 2016 DA - 2016// TI - Health-related quality of life in children with chronic immune thrombocytopenia in China JO - Health Qual Life Outcomes VL - 14 UR - https://doi.org/10.1186/s12955-016-0445-3 DO - 10.1186/s12955-016-0445-3 ID - Zhang2016 ER - TY - JOUR AU - Ramaswami, U. AU - Stull, D. E. AU - Parini, R. AU - Pintos-Morell, G. AU - Whybra, C. AU - Kalkum, G. AU - Rohrbach, M. AU - Raluy-Callado, M. AU - Beck, M. AU - Chen, W. -. H. PY - 2012 DA - 2012// TI - Measuring patient experiences in Fabry disease: validation of the Fabry-specific pediatric health and pain questionnaire (FPHPQ) JO - Health Qual Life Outcomes VL - 10 UR - https://doi.org/10.1186/1477-7525-10-116 DO - 10.1186/1477-7525-10-116 ID - Ramaswami2012 ER - TY - STD TI - International Rare Diseases Consortium (IRDiRC). Patient-centred outcome measures initiatives in the field of rare diseases 2016. http://www.irdirc.org/wp-content/uploads/2016/03/PCOM_Post-Workshop_Report_Final.pdf. Accessed 7 Nov 2017. UR - http://www.irdirc.org/wp-content/uploads/2016/03/PCOM_Post-Workshop_Report_Final.pdf ID - ref33 ER - TY - JOUR AU - Arends, M. AU - Hollak, C. E. M. AU - Biegstraaten, M. PY - 2015 DA - 2015// TI - Quality of life in patients with Fabry disease: a systematic review of the literature JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-015-0296-8 DO - 10.1186/s13023-015-0296-8 ID - Arends2015 ER - TY - JOUR AU - Hjollund, I. N. H. AU - Larsen, P. L. AU - Biering, K. AU - Johnsen, P. S. AU - Riiskjær, E. AU - Schougaard, M. L. PY - 2014 DA - 2014// TI - Use of patient-reported outcome (PRO) measures at group and patient levels: experiences from the generic integrated PRO system, WestChronic JO - Interact J Med Res VL - 3 UR - https://doi.org/10.2196/ijmr.2885 DO - 10.2196/ijmr.2885 ID - Hjollund2014 ER - TY - JOUR AU - Jensen, R. E. AU - Rothrock, N. E. AU - DeWitt, E. M. AU - Spiegel, B. AU - Tucker, C. A. AU - Crane, H. M. AU - Forrest, C. B. AU - Patrick, D. L. AU - Fredericksen, R. AU - Shulman, L. M. PY - 2015 DA - 2015// TI - The role of technical advances in the adoption and integration of patient-reported outcomes in clinical care JO - Med Care VL - 53 UR - https://doi.org/10.1097/MLR.0000000000000289 DO - 10.1097/MLR.0000000000000289 ID - Jensen2015 ER - TY - JOUR AU - Basch, E. AU - Deal, A. M. AU - Kris, M. G. AU - Scher, H. I. AU - Hudis, C. A. AU - Sabbatini, P. AU - Rogak, L. AU - Bennett, A. V. AU - Dueck, A. C. AU - Atkinson, T. M. PY - 2016 DA - 2016// TI - Symptom monitoring with patient-reported outcomes during routine Cancer treatment: a randomized controlled trial JO - J Clin Oncol VL - 34 UR - https://doi.org/10.1200/JCO.2015.63.0830 DO - 10.1200/JCO.2015.63.0830 ID - Basch2016 ER - TY - JOUR AU - Snyder, C. F. AU - Aaronson, N. K. PY - 2009 DA - 2009// TI - Use of patient-reported outcomes in clinical practice JO - Lancet VL - 374 UR - https://doi.org/10.1016/S0140-6736(09)61400-8 DO - 10.1016/S0140-6736(09)61400-8 ID - Snyder2009 ER - TY - JOUR AU - Luckett, T. AU - Butow, P. N. AU - King, M. T. PY - 2009 DA - 2009// TI - Improving patient outcomes through the routine use of patient-reported data in cancer clinics: future directions JO - Psychooncology VL - 18 UR - https://doi.org/10.1002/pon.1545 DO - 10.1002/pon.1545 ID - Luckett2009 ER - TY - JOUR AU - Basch, E. AU - Jia, X. AU - Heller, G. AU - Barz, A. AU - Sit, L. AU - Fruscione, M. AU - Appawu, M. AU - Iasonos, A. AU - Atkinson, T. AU - Goldfarb, S. PY - 2009 DA - 2009// TI - Adverse symptom event reporting by patients vs clinicians: relationships with clinical outcomes JO - J Natl Cancer Inst VL - 101 UR - https://doi.org/10.1093/jnci/djp386 DO - 10.1093/jnci/djp386 ID - Basch2009 ER - TY - JOUR AU - Trotti, A. AU - Colevas, A. D. AU - Setser, A. AU - Basch, E. PY - 2007 DA - 2007// TI - Patient-reported outcomes and the evolution of adverse event reporting in oncology JO - J Clin Oncol VL - 25 UR - https://doi.org/10.1200/JCO.2007.12.4784 DO - 10.1200/JCO.2007.12.4784 ID - Trotti2007 ER - TY - JOUR AU - Trujillano, D. AU - Oprea, G. E. AU - Schmitz, Y. AU - Bertoli-Avella, A. M. AU - Abou Jamra, R. AU - Rolfs, A. PY - 2017 DA - 2017// TI - A comprehensive global genotype–phenotype database for rare diseases JO - Mol Genet Genomic Med VL - 5 UR - https://doi.org/10.1002/mgg3.262 DO - 10.1002/mgg3.262 ID - Trujillano2017 ER - TY - JOUR AU - Morel, T. AU - Cano, S. J. PY - 2017 DA - 2017// TI - Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures JO - Orphanet J Rare Dis VL - 12 UR - https://doi.org/10.1186/s13023-017-0718-x DO - 10.1186/s13023-017-0718-x ID - Morel2017 ER - TY - STD TI - patientslikeme. The value of Openess. http://blog.patientslikeme.com/2007/12/13/the-value-of-openness/. Accessed 13 Nov 2017. UR - http://blog.patientslikeme.com/2007/12/13/the-value-of-openness/ ID - ref44 ER - TY - STD TI - Newman SC, Bland RC, Orn H. A comparison of methods of scoring the general health questionnaire. Compr Psychiatry. 1988;29:402–8. ID - ref45 ER - TY - STD TI - NIHR. INVOLVE. http://www.invo.org.uk/. Accessed 5 Sept 2017. UR - http://www.invo.org.uk/ ID - ref46 ER - TY - JOUR AU - Basch, E. AU - Bennett, A. V. PY - 2014 DA - 2014// TI - Patient-reported outcomes in clinical trials of rare diseases JO - J Gen Intern Med VL - 29 UR - https://doi.org/10.1007/s11606-014-2892-z DO - 10.1007/s11606-014-2892-z ID - Basch2014 ER - TY - JOUR AU - Mesa, R. A. AU - Schwager, S. AU - Radia, D. AU - Cheville, A. AU - Hussein, K. AU - Niblack, J. AU - Pardanani, A. D. AU - Steensma, D. P. AU - Litzow, M. R. AU - Rivera, C. E. PY - 2009 DA - 2009// TI - The myelofibrosis symptom assessment form (MFSAF): an evidence-based brief inventory to measure quality of life and symptomatic response to treatment in myelofibrosis JO - Leuk Res VL - 33 UR - https://doi.org/10.1016/j.leukres.2009.01.035 DO - 10.1016/j.leukres.2009.01.035 ID - Mesa2009 ER - TY - JOUR AU - Verstovsek, S. AU - Mesa, R. A. AU - Gotlib, J. AU - Levy, R. S. AU - Gupta, V. AU - DiPersio, J. F. AU - Catalano, J. V. AU - Deininger, M. AU - Miller, C. AU - Silver, R. T. PY - 2012 DA - 2012// TI - A double-blind placebo-controlled trial of Ruxolitinib for myelofibrosis JO - N Engl J Med VL - 366 UR - https://doi.org/10.1056/NEJMoa1110557 DO - 10.1056/NEJMoa1110557 ID - Verstovsek2012 ER - TY - JOUR AU - Mesa, R. A. AU - Kantarjian, H. AU - Tefferi, A. AU - Dueck, A. AU - Levy, R. AU - Vaddi, K. AU - Erickson-Viitanen, S. AU - Thomas, D. A. AU - Cortes, J. AU - Borthakur, G. PY - 2011 DA - 2011// TI - Evaluating the serial use of the myelofibrosis symptom assessment form for measuring symptomatic improvement JO - Cancer VL - 117 UR - https://doi.org/10.1002/cncr.26129 DO - 10.1002/cncr.26129 ID - Mesa2011 ER - TY - STD TI - Rodwell C, Ayme S. 2014 Report on the state of the art of rare disease activities in Europe. Scientific Secretariat of the European Union Committee of Experts on Rare Diseases (EUCERD) 2014. http://www.eucerd.eu/upload/file/Reports/2014ReportStateofArtRDActivities.pdf. Accessed 13 Nov 2017. UR - http://www.eucerd.eu/upload/file/Reports/2014ReportStateofArtRDActivities.pdf ID - ref51 ER - TY - STD TI - Gliklich RE, Dreyer NA, Leavy MB. Registries for evaluating patient outcomes: a user’s guide https://www.ncbi.nlm.nih.gov/books/NBK208609/. Accessed 14 Sept 2017. UR - https://www.ncbi.nlm.nih.gov/books/NBK208609/ ID - ref52 ER - TY - STD TI - Renal Association. How to routinely collect data on patient reported outcomes and experience measures in renal registries in Europe: an expert consensus meeting. https://www.renalreg.org/documents/how-to-routinely-collect-data-on-patient-reported-outcome-and-experience-measures-in-renal-registries-in-europe-an-expert-consensus-meeting/. Accessed 29 Sept 2017. UR - https://www.renalreg.org/documents/how-to-routinely-collect-data-on-patient-reported-outcome-and-experience-measures-in-renal-registries-in-europe-an-expert-consensus-meeting ID - ref53 ER - TY - STD TI - Orphanet. Rare Disease Registries in Europe. Research IFNIfHaM. 2017. http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf. Accessed 11 Nov 2017. UR - http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf ID - ref54 ER - TY - STD TI - Cystic Fibrosis Trust. UK CF Registry. https://www.cysticfibrosis.org.uk/the-work-we-do/uk-cf-registry. Accessed 15 Sept 2017. UR - https://www.cysticfibrosis.org.uk/the-work-we-do/uk-cf-registry ID - ref55 ER - TY - STD TI - Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Registry. https://www.cff.org/Research/Researcher-Resources/Patient-Registry/. Accessed 15 Nov 2016. UR - https://www.cff.org/Research/Researcher-Resources/Patient-Registry/ ID - ref56 ER - TY - STD TI - Fabry Registry. Fabry Registry: Creating knowledge on Fabry disease. https://www.fabrazyme.com/healthcare/Resources/Fabry-Registry.aspx. Accessed 11 Sept 2017. UR - https://www.fabrazyme.com/healthcare/Resources/Fabry-Registry.aspx ID - ref57 ER - TY - STD TI - Pompe Community. Pompe Registry. https://www.pompe-disease.eu/en. Accessed 19 Sept 2017. UR - https://www.pompe-disease.eu/en ID - ref58 ER - TY - STD TI - Gaucher Care. The Gaucher Registry. https://www.gaucher-disease.eu/en/hcp/resources/gaucher-registry. Accessed 11 Sept 2017. UR - https://www.gaucher-disease.eu/en/hcp/resources/gaucher-registry ID - ref59 ER - TY - JOUR AU - Devlin, N. J. AU - Parkin, D. AU - Browne, J. PY - 2010 DA - 2010// TI - Patient-reported outcome measures in the NHS: new methods for analysing and reporting EQ-5D data JO - Health Econ VL - 19 UR - https://doi.org/10.1002/hec.1608 DO - 10.1002/hec.1608 ID - Devlin2010 ER - TY - JOUR AU - Black, N. PY - 2013 DA - 2013// TI - Patient reported outcome measures could help transform healthcare JO - BMJ VL - 346 UR - https://doi.org/10.1136/bmj.f167 DO - 10.1136/bmj.f167 ID - Black2013 ER - TY - JOUR AU - Calvert, M. AU - Thwaites, R. AU - Kyte, D. AU - Devlin, N. PY - 2015 DA - 2015// TI - Putting patient-reported outcomes on the ‘Big data road Map’ JO - J R Soc Med VL - 108 UR - https://doi.org/10.1177/0141076815579896 DO - 10.1177/0141076815579896 ID - Calvert2015 ER - TY - JOUR AU - Kyte, D. AU - Cockwell, P. AU - Lencioni, M. AU - Skrybant, M. AU - von Hildebrand, M. AU - Price, G. AU - Squire, K. AU - Webb, S. AU - Brookes, O. AU - Fanning, H. PY - 2016 DA - 2016// TI - Reflections on the national patient-reported outcome measures (PROMs) programme: where do we go from here? JO - J R Soc Med VL - 109 UR - https://doi.org/10.1177/0141076816677856 DO - 10.1177/0141076816677856 ID - Kyte2016 ER - TY - JOUR AU - Frosch, D. L. PY - 2015 DA - 2015// TI - Patient-reported outcomes as a measure of healthcare quality JO - J Gen Intern Med VL - 30 UR - https://doi.org/10.1007/s11606-015-3476-2 DO - 10.1007/s11606-015-3476-2 ID - Frosch2015 ER - TY - STD TI - ICHOM. http://www.ichom.org/. Accessed. UR - http://www.ichom.org ID - ref65 ER - TY - STD TI - OMERACT. OMERACT resources. https://omeract.org/resources. Accessed Dec 2017. UR - https://omeract.org/resources ID - ref66 ER - TY - JOUR AU - Prinsen, C. A. AU - Vohra, S. AU - Rose, M. R. AU - Boers, M. AU - Tugwell, P. AU - Clarke, M. AU - Williamson, P. R. AU - Terwee, C. B. PY - 2016 DA - 2016// TI - How to select outcome measurement instruments for outcomes included in a “Core outcome set” - a practical guideline JO - Trials VL - 17 UR - https://doi.org/10.1186/s13063-016-1555-2 DO - 10.1186/s13063-016-1555-2 ID - Prinsen2016 ER - TY - JOUR AU - Terwee, C. B. AU - Mokkink, L. B. AU - Knol, D. L. AU - Ostelo, R. W. J. G. AU - Bouter, L. M. AU - de Vet, H. C. W. PY - 2012 DA - 2012// TI - Rating the methodological quality in systematic reviews of studies on measurement properties: a scoring system for the COSMIN checklist JO - Qual Life Res VL - 21 UR - https://doi.org/10.1007/s11136-011-9960-1 DO - 10.1007/s11136-011-9960-1 ID - Terwee2012 ER - TY - JOUR AU - Mokkink, L. B. AU - Terwee, C. B. AU - Knol, D. L. AU - Stratford, P. W. AU - Alonso, J. AU - Patrick, D. L. AU - Bouter, L. M. AU - De Vet, H. C. W. PY - 2010 DA - 2010// TI - The COSMIN checklist for evaluating the methodological quality of studies on measurement properties: a clarification of its content JO - BMC Med Res Methodol VL - 10 UR - https://doi.org/10.1186/1471-2288-10-22 DO - 10.1186/1471-2288-10-22 ID - Mokkink2010 ER - TY - BOOK AU - Isa, F. AU - Turner, G. AU - Kyte, D. AU - Slade, A. AU - Pankhurst, T. AU - Kerecuk, L. AU - Keeley, T. AU - Ferguson, J. AU - Calvert, M. PY - 2016 DA - 2016// TI - Patient reported outcome measures used in patients with primary sclerosing cholangistis: systematic review PB - ISOQOL CY - Copenhagen ID - Isa2016 ER - TY - STD TI - Younossi ZM, Afendy A, Stepanova M, Racila A, Nader F, Gomel R, Safer R, Lenderking WR, Skalicky A, Kleinman L, Myers RP, Subramanian GM, McHutchison JG, Levy C, Bowlus CL, Kowdley K, Muir AJ. Development and Validation of a Primary Sclerosing Cholangitis-Specific Patient-Reported Outcomes Instrument: The PSC PRO. Hepatology. 2018. Accepted Author Manuscript. https://doi.org/10.1002/hep.29664. ID - ref71 ER - TY - STD TI - Mapi Research Trust. ePROVIDE Online Support in Clinical Outcome Assessments. https://eprovide.mapi-trust.org/search?form[searchText]=&form[ezxform_token]=vm5mY6mwXBfdtdI8lIZbV5vT3P8YndbDBnIiXAa3gLI. Accessed 15 Sept 2017. UR - https://eprovide.mapi-trust.org/search?form%5bsearchText%5d=&form%5bezxform_token%5d=vm5mY6mwXBfdtdI8lIZbV5vT3P8YndbDBnIiXAa3gLI ID - ref72 ER - TY - JOUR AU - Cella, D. AU - Yount, S. AU - Rothrock, N. AU - Gershon, R. AU - Cook, K. AU - Reeve, B. AU - Ader, D. AU - Fries, J. F. AU - Bruce, B. AU - Rose, M. PY - 2007 DA - 2007// TI - The patient-reported outcomes measurement information system (PROMIS): progress of an NIH roadmap cooperative group during its first two years JO - Med Care VL - 45 UR - https://doi.org/10.1097/01.mlr.0000258615.42478.55 DO - 10.1097/01.mlr.0000258615.42478.55 ID - Cella2007 ER - TY - JOUR AU - Bevans, M. AU - Ross, A. AU - Cella, D. PY - 2014 DA - 2014// TI - Patient-reported outcomes measurement information system (PROMIS(®)): efficient, standardized tools to measure self-reported health and quality of life JO - Nurs Outlook VL - 62 UR - https://doi.org/10.1016/j.outlook.2014.05.009 DO - 10.1016/j.outlook.2014.05.009 ID - Bevans2014 ER - TY - JOUR AU - van der Beek, N. A. M. E. AU - Hagemans, M. L. C. AU - van der Ploeg, A. T. AU - van Doorn, P. A. AU - Merkies, I. S. J. PY - 2013 DA - 2013// TI - The Rasch-built Pompe-specific activity (R-PAct) scale JO - Neuromuscul Disord VL - 23 UR - https://doi.org/10.1016/j.nmd.2012.10.024 DO - 10.1016/j.nmd.2012.10.024 ID - van der Beek2013 ER - TY - JOUR AU - Mattera, M. S. AU - Kaplan, F. S. AU - Pignolo, R. J. AU - Grogan, D. AU - Revicki, D. A. PY - 2015 DA - 2015// TI - Patient-reported physical function outcome measure for adults with Fibrodysplasia Ossificans Progressiva: intelligent test design based on Promis item banks JO - Value Health VL - 18 UR - https://doi.org/10.1016/j.jval.2015.03.954 DO - 10.1016/j.jval.2015.03.954 ID - Mattera2015 ER - TY - JOUR AU - Hermans, M. C. E. AU - Hoeijmakers, J. G. J. AU - Faber, C. G. AU - Merkies, I. S. J. PY - 2015 DA - 2015// TI - Reconstructing the Rasch-built myotonic dystrophy type 1 activity and participation scale JO - PLoS One VL - 10 UR - https://doi.org/10.1371/journal.pone.0139944 DO - 10.1371/journal.pone.0139944 ID - Hermans2015 ER - TY - JOUR AU - Wolfe, E. PY - 2000 DA - 2000// TI - Equating and item banking with the Rasch model JO - J Appl Meas VL - 1 ID - Wolfe2000 ER - TY - JOUR AU - Pallant, J. F. AU - Tennant, A. PY - 2007 DA - 2007// TI - An introduction to the Rasch measurement model: an example using the hospital anxiety and depression scale (HADS) JO - Br J Clin Psychol VL - 46 UR - https://doi.org/10.1348/014466506X96931 DO - 10.1348/014466506X96931 ID - Pallant2007 ER - TY - CHAP AU - Du, Y. AU - Yates, F. PY - 1995 DA - 1995// TI - When to adjust for differential item functioning BT - Rasch Measurement Transactions vol 9 ID - Du1995 ER - TY - JOUR AU - Wild, D. AU - Grove, A. AU - Martin, M. AU - Eremenco, S. AU - McElroy, S. AU - Verjee-Lorenz, A. AU - Erikson, P. PY - 2005 DA - 2005// TI - Principles of good practice for the translation and cultural adaptation process for patient-reported outcomes (PRO) measures: report of the ISPOR task force for translation and cultural adaptation JO - Value Health VL - 8 UR - https://doi.org/10.1111/j.1524-4733.2005.04054.x DO - 10.1111/j.1524-4733.2005.04054.x ID - Wild2005 ER - TY - JOUR AU - Wild, D. AU - Eremenco, S. AU - Mear, I. AU - Martin, M. AU - Houchin, C. AU - Gawlicki, M. AU - Hareendran, A. AU - Wiklund, I. AU - Chong, L. Y. AU - von Maltzahn, R. PY - 2009 DA - 2009// TI - Multinational trials—recommendations on the translations required, approaches to using the same language in different countries, and the approaches to support pooling the data: the ISPOR patient-reported outcomes translation and linguistic validation good research practices task force report JO - Value Health VL - 12 UR - https://doi.org/10.1111/j.1524-4733.2008.00471.x DO - 10.1111/j.1524-4733.2008.00471.x ID - Wild2009 ER - TY - JOUR AU - Regnault, A. AU - Herdman, M. PY - 2015 DA - 2015// TI - Using quantitative methods within the universalist model framework to explore the cross-cultural equivalence of patient-reported outcome instruments JO - Qual Life Res VL - 24 UR - https://doi.org/10.1007/s11136-014-0722-8 DO - 10.1007/s11136-014-0722-8 ID - Regnault2015 ER - TY - JOUR AU - Tennant, A. AU - Penta, M. AU - Tesio, L. AU - Grimby, G. AU - Thonnard, J. L. AU - Slade, A. AU - Lawton, G. AU - Simone, A. AU - Carter, J. AU - Lundgren-Nilsson, A. PY - 2004 DA - 2004// TI - Assessing and adjusting for cross-cultural validity of impairment and activity limitation scales through differential item functioning within the framework of the Rasch model - The PRO-ESOR project JO - Med Care VL - 42 UR - https://doi.org/10.1097/01.mlr.0000103529.63132.77 DO - 10.1097/01.mlr.0000103529.63132.77 ID - Tennant2004 ER - TY - JOUR AU - Cano, S. J. AU - Mayhew, A. AU - Glanzman, A. M. AU - Krosschell, K. J. AU - Swoboda, K. J. AU - Main, M. AU - Steffensen, B. F. AU - BÉRard, C. AU - Girardot, F. AU - Payan, C. A. PY - 2014 DA - 2014// TI - Rasch analysis of clinical outcome measures in spinal muscular atrophy JO - Muscle Nerve VL - 49 UR - https://doi.org/10.1002/mus.23937 DO - 10.1002/mus.23937 ID - Cano2014 ER - TY - JOUR AU - Aiyegbusi, O. L. AU - Kyte, D. AU - Cockwell, P. AU - Marshall, T. AU - Dutton, M. AU - Slade, A. AU - Marklew, N. AU - Price, G. AU - Verdi, R. AU - Waters, J. PY - 2017 DA - 2017// TI - Using patient-reported outcome measures (PROMs) to promote quality of care and safety in the management of patients with advanced chronic kidney disease (PRO-trACK project): a mixed-methods project protocol JO - BMJ Open VL - 7 UR - https://doi.org/10.1136/bmjopen-2017-016687 DO - 10.1136/bmjopen-2017-016687 ID - Aiyegbusi2017 ER - TY - CHAP AU - Zhu, X. AU - Cahan, A. ED - Weaver, C. A. ED - Ball, M. J. ED - Kim, G. R. ED - Kiel, J. M. PY - 2016 DA - 2016// TI - Wearable technologies and telehealth in Care Management for Chronic Illness BT - Healthcare Information management systems: cases, strategies, and solutions PB - springer international publishing CY - Cham UR - https://doi.org/10.1007/978-3-319-20765-0_22 DO - 10.1007/978-3-319-20765-0_22 ID - Zhu2016 ER - TY - STD TI - PCORI. Can Telehealth improve care? https://www.pcori.org/research-in-action/can-telehealth-improve-care. Accessed 8 Jan 2018. UR - https://www.pcori.org/research-in-action/can-telehealth-improve-care ID - ref88 ER - TY - STD TI - PCORI. Patient-Centred Outcomes Research Institute. https://www.pcori.org/document/users-guide-integrating-patient-reported-outcomes-electronic-health-records. Accessed 9 Jan 2018. UR - https://www.pcori.org/document/users-guide-integrating-patient-reported-outcomes-electronic-health-records ID - ref89 ER -