The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseases

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages 1-9

  Javaid, M K ^a   Forestier Zhang, L ^a   Watts, L ^a   Turner, A ^a   Ponte, C ^a   Teare, H ^a   Gray, D ^a   Gray, N ^a   Popert, R ^a   Hogg, J ^a   Barrett, J ^a   Pinedo Villanueva, R ^a   Cooper, C ^a,b   Eastell, R ^c   Bishop, N ^d   Luqmani, R ^a   Wordsworth, P ^a   Kaye, J ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c NORTHERN GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

Database management systems; Dynamic consent; Patient reported outcome measures; Rare diseases

Indexed keywords

ADOLESCENT; ADULT; AGED; ALBRIGHT SYNDROME; AORTA ARCH SYNDROME; ARTICLE; CHILD; CONCEPTUAL FRAMEWORK; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DEPRESSION; DISEASE CLASSIFICATION; EOSINOPHILIC GRANULOMA; FATIGUE; FIBROUS DYSPLASIA; HEALTH CARE ACCESS; HEALTH CARE COST; HEALTH CARE QUALITY; HUMAN; HYPOPHOSPHATASIA; INFANT; MAJOR CLINICAL STUDY; METHODOLOGY; MUSCULOSKELETAL DISEASE; MYELOMA; NEWBORN; ONLINE SYSTEM; OSTEOGENESIS IMPERFECTA; OSTEOSCLEROSIS; POLYARTERITIS NODOSA; PREGNANCY ASSOCIATED OSTEOPOROSIS; QUALITY OF LIFE; QUESTIONNAIRE; RARE DISEASE; SHORT FORM 36; X LINKED HYPOPHOSPHATEMIC RICKETS; FACTUAL DATABASE; PATIENT SELECTION; REGISTER; UNITED KINGDOM;

DATABASES, FACTUAL; HUMANS; MUSCULOSKELETAL DISEASES; PATIENT SELECTION; RARE DISEASES; REGISTRIES; UNITED KINGDOM;

EID: 84994558743     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0528-6     Document Type: Article

References (29)

1. Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039-41.
2. Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009;96(1):20-6.
3. Wastfelt M, Fadeel B, Henter JI. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med. 2006;260(1):1-10.
4. Cavero-Carbonell C, Gras-Colomer E, Guaita-Calatrava R, Lopez-Briones C, Amoros R, Abaitua I, et al. Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study. J Public Health (Oxf). 2015;38(2):e178-e186.
5. Augustine EF, Adams HR, Mink JW. Clinical trials in rare disease: challenges and opportunities. J Child Neurol. 2013;28(9):1142-50.
6. Clarke JT, Coyle D, Evans G, Martin J, Winquist E. Toward a functional definition of a "rare disease" for regulatory authorities and funding agencies. Value Health. 2014;17(8):757-61.
7. Potter BK, Khangura SD, Tingley K, Chakraborty P, Little J. Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? Genet Med. 2016;18(2):117-23.
8. EURODIS. EURODIS: the Voice of Rare Disease Patients in Europe 2015 [Available from: http://www.eurordis.org. Accessed 03 Apr 2016.
9. Kaye J, Whitley EA, Lund D, Morrison M, Teare H, Melham K. Dynamic consent: a patient interface for twenty-first century research networks. Eur J Hum Genet. 2015;23(2):141-6.
10. Taruscio D, Mollo E, Gainotti S, Posada de la Paz M, Bianchi F, Vittozzi L. The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration. Arch Public Health. 2014;72(1):35.
11. Rabin R, de Charro F. EQ-5D: a measure of health status from the EuroQol Group. Ann Med. 2001;33(5):337-43.
12. Jenkinson C, Coulter A, Wright L. Short form 36 (SF36) health survey questionnaire: normative data for adults of working age. BMJ. 1993;306(6890):1437-40.
13. Lincoln NB, Gladman JR. The Extended Activities of Daily Living scale: a further validation. Disabil Rehabil. 1992;14(1):41-3.
14. Buysse DJ, Reynolds 3rd CF, Monk TH, Berman SR, Kupfer DJ. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res. 1989;28(2):193-213.
15. Melzack R. The McGill Pain Questionnaire: major properties and scoring methods. Pain. 1975;1(3):277-99.
16. Freynhagen R, Baron R, Gockel U, Tolle TR. painDETECT: a new screening questionnaire to identify neuropathic components in patients with back pain. Curr Med Res Opin. 2006;22(10):1911-20.
17. Zigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983;67(6):361-70.
18. Varni JW, Seid M, Smith Knight T, Burwinkle T, Brown J, Szer IS. The PedsQL in pediatric rheumatology: reliability, validity, and responsiveness of the Pediatric Quality of Life Inventory Generic Core Scales and Rheumatology Module. Arthritis Rheum. 2002;46(3):714-25.
19. Wong DL, Baker CM. Pain in children: comparison of assessment scales. Oklahoma Nurse. 1988;33(1):8.
20. van Nes SI, Vanhoutte EK, van Doorn PA, Hermans M, Bakkers M, Kuitwaard K, et al. Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies. Neurology. 2011;76(4):337-45.
21. Robson JC, Milman N, Tomasson G, Dawson J, Cronholm PF, Kellom K, et al. Exploration, Development, and Validation of Patient-reported Outcomes in Antineutrophil Cytoplasmic Antibody-associated Vasculitis Using the OMERACT Process. J Rheumatol. 2015;42(11):2204-9.
22. Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, et al. Dispelling myths about rare disease registry system development. Source Code Biol Med. 2013;8(1):21.
23. Baxter K, Terry SF. International Rare Disease Research Consortium commits to aggressive goals. Genet Test Mol biomark. 2011;15(7-8):465.
24. Rodwell C, Ayme S. Rare disease policies to improve care for patients in Europe. Biochim Biophys Acta. 2015;1852(10 Pt B):2329-35.
25. Santoro M, Coi A, Lipucci Di Paola M, Bianucci AM, Gainotti S, Mollo E, et al. Rare disease registries classification and characterization: a data mining approach. Public Health Genomics. 2015;18(2):113-22.
26. Taruscio D, Gainotti S, Mollo E, Vittozzi L, Bianchi F, Ensini M, et al. The current situation and needs of rare disease registries in Europe. Public Health Genomics. 2013;16(6):288-98.
27. Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, et al. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Contemp Clin Trials. 2010;31(5):394-404.
28. Johnson KJ, Mueller NL, Williams K, Gutmann DH. Evaluation of participant recruitment methods to a rare disease online registry. Am J Med Genet A. 2014;164a(7):1686-94.
29. Thompson R, Johnston L, Taruscio D, Monaco L, Beroud C, Gut IG, et al. RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med. 2014;29 Suppl 3:S780-7.